obsolete rod-cone dystrophy
recurrent aspergillus infections
bullae of oral mucosa
severe gum disease
macrovesicular steatosis
localized
ovoid thoracolumbar vertebrae
proportionate dwarfism
pectoralis major muscle hypoplasia
hypogonadism, hypogonadotropic
fragmentation of the end part of the 4th toe bone
embolism and thrombosis
abnormality of nasal hair
big head present at birth
asymmetry of intraocular pressure
rheumatoid arthritis
abnormality of the end part of the pinky toe bone
duplication of the distal phalanx of the 4th toe
abnormality of myeloid leukocytes
underdeveloped tear duct
obsessive compulsive disorder
absent innermost bone of middle finger
epiphyseal abnormality
pulmonary arteriovenous fistulas
abnormality of gastrointestinal vasculature
constricted ear
underdevelopment of upper eyelid
agnathia
l-transposition
deep venous thrombosis
speckled calcifications in end part of the innnermost bone of the pinkie finger
fast-growing nails
chin with horizontal groove
deformational frontal plagiocephaly
hypoplasia/agenesis of distal phalanges of toes
hypoplastic male external genitalia
aphalangy, hands and feet
hyperplasia of permanent maxillary central incisor
adenoma of the ceruminous gland
very late eruption of permanent teeth
prematurely aged facial appearance
periodontitis
uneven nostril size
proximal renal tubule defect
stippling of the epiphyses of the fingers
overgrowth of one arm
absent/underdeveloped spleen
elevated brain creatine level by mrs
blepharoptosis
deficient n-acetylglucosaminyltransferase ii
irregular end part of the outermost bone of pinkie finger
respiratory distress, neonatal
brain abscess
ectopic respiratory mucosa
ambiguous genitalia in males
increased qrs voltage
progressive spastic paraparesis
stiff joint
hypoplastic tonsils
deformity of the nostrils
conjunctival amyloidosis
fused index finger bones
muscle hyperirritability
muscle stiffness, exercise-induced
absent/underdeveloped toe bones
labial pseudohypertrophy
complete duplication of the middle bone of the pinkie toe
double inlet to single ventricle of indeterminate morphology
calvarial osteosclerosis
absent end part of the innermost bone of the 4th toe
ascending aortic dilation
large terminal thumb phalanx epiphysis
abnormality of the middle phalanx of the 5th finger
hypertrophy of permanent maxillary central incisor
missing some baby teeth
hydrocele testis
high serum creatine kinase
abnormality of cochlea
overgrowth of calf bone
resorption of alveolar processes of jaw
eclabium of lower lip
retinal racemose hemangioma
limited jaw movement
impaired topognosis
early severe fetal akinesia sequence
desmin bodies
keloids
brachytelephalangy
fullness of paranasal tissue
long upper eyelashes
fatty kidney
short third toe
absent tibia
decreased level of histidine-rich glycoprotein
hypoplasia of eyelid
webbed 2nd-3rd fingers
craniofacial dysostosis
flexion contracture
abnormality of cardiac ventricle
pseudoepiphyses of the 2nd finger
thickened achilles tendon
abnormality of body mass index
stippled calcification of humeral metaphysis
happy aspect
dagger shaped pulp denticles
hemarthroses
thin lower face
irregular end part of the outermost bone of the 4th toe
minimal subcutaneous fat
abnormality of the intestine
raised immunoglobulin levels
hypergammaglobulinemia
intralobar nephrogenic rest
hypotrichosis of eyebrow
recurrent abscess formation
hooked tip of nose
increased bone density of end part of the 3rd toe bone
iodine contrast allergy
impaired vestibular function
multiple exostoses
camptodactyly of hands
nephrogenic diabetes insipidus
multiple non-erupting teeth
spastic dysarthria
abnormality involving the diaphyses of the upper limbs
non-detectable vep
deformity of cartilage of nasal septum
aortic atresia
irregular ossification at anterior rib ends
corneal opacities
cataract, congenital
muscular weakness, limb-girdle
recurrent mandibular subluxations
advanced carpal ossification
bilateral superior vena cava with no bridging vein
big lower jaw
acute respiratory acidosis
giant hypertrophic gastritis
absent epiphysis of the middle phalanx of the 5th toe
thromboembolic events
monorchidism
abnormality of the pituitary gland
absent canines
abnormality of carboxylic acid metabolism
small nasal bone
fragmentation of the end part of the ring finger bones
amyotrophic lateral sclerosis
large head circumference
high urine phosphoethanolamine levels
increase in t cell count
abnormality of the vena cava
proximal tapering of metacarpals
kienbock's disease
wide thorax
hypotrophic frontal bones
abnormal ossification involving the bones of the pelvis
absent/underdeveloped innermost bone of 3rd toe
two rows of eyelashes
progressive inability to walk
muscle specific kinase antibody positivity
retarded ejaculation
retinal vein occlusion
subungual fibromas
difficulty in standing
microgastria
muscle fiber intranuclear inclusion bodies
childhood-onset short-trunk short stature
fused innermost and middle pinkie toe bones
increased groin pigmentation with raindrop depigmentation
respiratory failure due to muscle weakness
prenatal growth deficiency
polymorphous posterior corneal dystrophy
forward slanting upper incisors
seizures
metaphyseal enchondromatosis
potter facies
delayed elbow epiphyseal ossification
partial duplication of hand bones
macular scar
occipital encephalocele
giant cell granuloma of mandible
bowed forearm bones
tremor of hand
dysplastic adrenal glands
sebaceous naevus
absent/underdeveloped outermost ring finger bone
cardiac arrest
punctate lenticular opacities
pes calcaneovarus
failure of development of permanent teeth
atlantoaxial subluxation
partial/complete duplication of the distal phalanges of the hand
osteoarthritis of the elbow
myositis
abnormal rotation of the kidneys
atrophy of half of face
lacrimal gland aplasia
paralytic ileus
underdeveloped left heart atrium
overgrowth of the inner surface of the skull bones
bracket shaped end part of long bone of hand
hyperplasia of incisor
thinning and bulging of occipital bone of skull
hip contractures
white forelock
unsteady gait
lumbar interpedicular narrowing
blood clot in liver vein
segmental peripheral demyelination/remyelination
broad forehead
endocapillary hypercellularity
contracture of the distal interphalangeal joint of the second toe
low facial muscle tone
mandibular micrognathia
absence of cd4-positive, cd25-positive regulatory t cells
prenatal-onset growth retardation
reduced igm levels
notch of lower alveolar ridge
aplasia of the middle phalanx of the 3rd finger
exercise-induced muscle cramps
osteolytic defects of the phalanges of the 3rd toe
echogenic intracardiac focus
hyperostosis of the internal surface of the cranial bone
renal diverticulum
tetralogy of fallot with absent subarterial conus
decreased transitional b cell count
elevated urinary epinephrine
reduced muscle fiber laminin beta 1
x-linked form
short femoral necks
non-restrictive ventricular septal defect
localized autonomic seizures with altered responsiveness
atrophy of the hypothalamus
unbalanced atrioventricular septal defect
clumsiness
renal salt wasting
bethlem phenomenon
displaced kidney
glenoid hypoplasia
bifid terminal phalanx of the 2nd finger
double inlet left ventricle
secondary caesarian section
sparse lateral eyebrow
flexion contracture of the 4th toe
macrodactyly of finger
tubulointerstitial fibrosis
contracture of the distal interphalangeal joint of the fingers
speckled calcifications in the end part of the outermost bone of the pinkie toe
metatarsal synostosis
prolonged clotting time
craniorachischisis
short distal phalanx of finger
thin skin
abnormality of the dentate nucleus
absent/underdeveloped outermost thumb bone
hypoplasia of the musculature
progressive hearing impairment
spinal myoclonus
tarsal synostosis
camptodactyly of the 3rd toe
abnormality of the fallopian tube
ala lower than columella
blue sclera
lower limb muscle hypotrophy
delayed upper limb epiphyseal ossification
epileptic spasms
symphalangism of middle phalanx of finger
lumbar kyphoscoliosis
missing six year molar
bone marrow foam cells
malar hyperplasia
boerhaave syndrome
abnormality of the acetabulum
proximal amyotrophy
pinhole visual acuity 0.2 logmar
lipomas
patchy sclerosis of the phalanges of the hallux
uneven increase in bone density in the innermost bone of the middle finger
abnormality of the intermaxillary segment of the maxilla
small upper jaw
diffuse palmoplantar keratoderma
absent/underdeveloped breasts
abnormality of vision
mortality/aging
anterior bulging of the globe of eye
stippling of the epiphysis of the distal phalanx of the thumb
baggy eyes
low maternal serum chorionic gonadotropin
irregular sclerosis of hand bones
dense deposit disease
av nodal tachycardia
abnormal brain choline level by magnetic resonance spectroscopy
abnormality of the palm lines
abnormality of head shape
camptodactyly of the fifth toe
levator palpebrae superioris atrophy
patchy increase of bone mineral density
anterior beaking of lumbar vertebrae
metachromatic leukodystrophy variant
psychomotor deterioration
aplasia/hypoplasia of the tragus
abnormality of abdomen morphology
increased haemoglobin oxygen affinity
hypoplastic ischii
hypoplastic ischia
type 1 muscle fiber predominance
anhedonia
metaphyseal cupping of metacarpals
intra-oral hyperpigmentation
persistent left superior vena cava
partial duplication of the outermost bone of the fourth toe
abnormality of the tympanic membrane
absent middle ear bones
upslanting palpebral fissures
abnormality of permanent molar morphology
dental abnormality
recurring pancreas inflammation
divergence nystagmus
hypoplastic vagina
beaten-bronze macular appearance
aplasia of outermost hand bone
increased fucosylation of n-linked protein glycosylation
skin tags
abnormal estrogen level
adrenocorticotropic hormone-resistant adrenal insufficiency
primary generalized tonic-clonic seizures
extra kidney
primitive reflex
bilateral congenital mydriasis
myelin-dependent gliosis
proximal tibial and fibular fusion
abnormality of lateral cricoarytenoid muscle
premature fontanel closure
cortical thickening of the long bones
uneven increase in bone density in the middle bone of the pinky finger
frequent candida infections
therapeutic abortion
acute leukemias
curved distal phalanges of the hand
horizontal nystagmus
enlarged end part of the outermost bone of the 4th toe
congenital hypoparathyroidism
shortened 1st long bone of hand
speckled calcifications in the end part of the pinky toe bone
delayed carpal ossification
malignant neoplasm of the central nervous system
abnormality of the epiphysis of the distal phalanx of the 5th toe
abnormality of the vestibular nerve
mallet finger
facial fat hyperplasia
secondary hyperaldosteronism
abnormal blood gas level
fragmentation of end part of the innermost bone of the pinkie finger
irregular end part of thumb long bone
absent/underdeveloped middle finger bone of the hand
uneven increase in bone density in little finger bone
retinal dysplasia
symphalangism of the middle and proximal phalanges of the 2nd toe
absent vestibule
underdeveloped labia
narrowing of aortic valve
contracture of thumb
hypotrophic nasal tip
acthr defect
frontal flattening
abnormality of the achilles tendon
lip freckle
complete duplication of the bones of the ring finger
absent/underdeveloped diaprhagm
obsolete periosteal new bone of middle finger phalanges
pulmonary infection
age-related posterior subcapsular cataract
restlessness
hypopigmentation of hair
paramedian labial pits
intellectual deterioration
senile plaques
type a2 brachydactyly
narrow palpebral fissure, unilateral
abnormality of the phalanges of the 5th finger
cerebellar cortical atrophy
pectoralis hypoplasia
decreased distal touch sense
enlarged mandible
abnormal vertebral bodies
abnormal macrophage count
fragmented, irregular epiphyses
recurrent pharyngitis
bullet-shaped thumb phalanx
posterior lenticonus
parathyroid hypoplasia
cleft of lower gingiva
aplasia of the maxilla
gait difficulties
long phalanx of finger
accessory carpal bones
abnormality of the phalanges of the 4th toe
limb myoclonus
stippling of the epiphysis of the middle phalanx of the 4th finger
peripheral neuroepithelioma
fibrotic testicle
abnormal muscle fiber dysferlin
neonatal hyperbilirubinemia
decreased serum igg
eeg with central sharp waves
hypotonia, neonatal, generalized
absent proximal phalanges
asymptomatic hyperthyroxinemia
short distal phalanx of the second finger
nasal bridge, thin
malformation of the supraorbital ridges
adrenal calcification
prominent lips
single ventricle of indeterminate morphology
coronal suture craniosynostosis
curved innermost bone of the 4th toe
abnormal morphology of the midface
large skull present since birth
sclerosis of the proximal phalanx of the 5th toe
cyanosis
renal tubular disease
bladder exstrophy
obsolete ligamentous laxity
decreased height of upper lip vermilion
generalized hypoplasia of tooth enamel
facial wrinkling
facial palsy, unilateral or bilateral
acth receptor defect
failure of development of facial skeleton
depression of metopic cranial suture
renal cell carcinoma
total internal and external ophthalmoplegia
excess skin in infancy
methymalonicaciduria
aplasia/hypoplasia of the middle phalanx of the 4th toe
type 2 fiber atrophy
aplasia of the retina
low b cell count
reduced prothrombin activity
misophonia
increased blood urea nitrogen
rib gap
type 1 lissencephaly
low csf 5-methyltetrahydrofolate
choroid plexus carcinoma
decreased cervical spine flexion due to contractures of posterior cervical muscles
abnormal shape of gallbladder
entrapment neuropathy of suprascapular nerve
hypochloremia
degenerative disc disease
bronchial asthma
fat cell hypertrophy
upper front shark tooth
essential tremor
abnormality of prostaglandin metabolism
wide skull shape
progressive spastic paraplegia
mandibular prognathia
absent earlobe
positive gowers sign
renal cyst
muscle atrophy, neurogenic
abnormal teeth spacing
marginal umbilical cord insertion
increased bone density of end part of the pinkie finger
osseous stenosis of the external auditory canal
triangular end part of the pinkie toe bone
avascular necrosis
fragmentation of the epiphyses of the thumb
notch of mandibular alveolar process
hyperplasia of the leydig cells
macromastia
speckled calcifications in end part of the middle bone of the ring finger
centralized nuclei
abnormality of masticatory muscle
neuronal loss
hypoplastic right heart syndrome
hyperostosis of skull
peroneal muscle weakness
hypocitraturia
anterior encephalocele
deviation of the hallux
craniofacial teratoma
abnormality of the right ventricle
symmetric proximal muscular atrophy
small pharynx
fluid overload in blood
atrophy of the tongue
loss of facial fat
increased front to back length of eyeball
progressive cone degeneration
absent/underdeveloped spine
decreased adipose tissue around neck
absence of overlap of anterior upper and lower teeth
foveal reflex absent
curved bones of middle finger
anterior chamber anomalies
urine concentrating defect
absent/small iris
curved distal phalanx of the 3rd toe
genital neoplasia
bilateral nanophthalmos
t-wave abnormalities
absent pigmentation in the eye
epigastric auras
postaxial polydactyly of foot
ventricular diverticulum
abnormality of the phalanges
abnormality of thrombocytes
obsolete peripheral retinal pigmentation abnormalities
shortening of the shinbone
bifid scrotum
polyclonal elevation of igm
low cholesterol esterification rates
systemic hypertension
digital constriction ring
hemianoptic blurring of vision
focal seizures without impairment of consciousness or awareness
broad hallux
nasal, dysarthic speech
darkening of the forehead
sclerotic cranial sutures
malformation of facial adipose tissue
orofacial dyskinesias
increased bone density in ribs
delayed phalangeal epiphyseal bone maturation
laryngeal webs
eeg with burst suppression
absent/small middle finger bone of the hand
cornea plana
optically empty vitreous
abnormality of the skullcap
abnormality of umbilical vein blood flow
episodic paroxysmal anxiety
autosomal dominant inheritance with paternal imprinting
flat end part of bone
shortening of all the middle bones of the toes
missing permanent molar
muscle fiber inclusion bodies
colorblindness
microcytic anemia
topoisomerase i antibody positivity
prominent tailbone
oral cavity teleangiectasia
hyperlacticacidemia
hyperplasia of glabella
curved innermost pinkie toe bone
non-midline cleft of the upper lip
increased ossification of facial bones
enlargement of parotid gland
bowed humerus
aplastic/hypoplastic phalanges of the hand
hypersensitivity pneumonitis
increased peripheral myelin thickness
colloid bodies of civatte
slender humeral diaphysis
hypoplastic or absent patella
osteolytic defects of the phalanges of the 4th finger
agenesis of cerebellar vermis
bullet-shaped distal phalanx of the 5th finger
fragmentation of thumb epiphysis
abnormality of prenatal development or birth
abnormality of the upper limb
neck stiffness
mode of inheritance
hemolytic anemia, autoimmune
diabetes mellitus type 2
broad innermost bone of middle finger
peters anomaly
midface hypoplasia
triangular epiphyses of the toes
caliectasis
hyperproteinemia
curved middle bone of pinky finger
right aortic arch
paroxysmal atrial fibrillation
abnormality of the distal fibular epiphysis
cicatricial alopecia
hypomature dental enamel
bilateral talipes equinovarus
underdeveloped supraorbital ridges
abnormality of esophagus morphology
medullary sponge kidney disease
olivopontocerebellar degeneration
tortuosity of conjunctival vessels
small patella
indented bridge of nose
bilateral renal atrophy
double antitragus
abnormality of the humeral diaphysis
elevated urinary homovanillic acid
cupped wide portion of the upper limb bone
abnormal ossification involving metatarsal bones
complete duplication of the distal phalanx of the fifth toe
y-shaped metacarpals
boxer's nasal deformity
underdevelopment of maxilla
femoral hernia
gap between upper and lower front teeth when biting
upturned nasal tip
neoplasia of the eye
bifid skull
cardiac anomalies
gait ataxia
structural anomalies of the renal tract
nocturnal hyperhidrosis
chronic lung infections
abnormal shape of the forehead
hyperautofluorescent macular lesion
absent/small fundus
chyloperitoneum
adrenal gland dysgenesis
focal t2 hypointense thalamic lesion
infancy onset short-trunk short stature
helix, crus, horizontal
clear cell renal cell carcinoma
retrusion of upper jaw bones
ulcerative colitis
hypotrophic frontal sinus
decreased activity of mitochondrial complex ii
short 4th toe
decreased activity of mitochondrial complex iv
intermittent generalized erythematous papular rash
aplasia/hypoplasia of the skin
curved thumb bone
pyoderma
hemifacial spasms
gingival recession
recurrent vulvovaginal candidiasis
skeletal abnormalities
missing primary maxillary lateral incisor
paroxysmal sneezing
abnormality of musculature of the nose
abnormality of the thyroid gland
unguarded tricuspid valve orifice
sclerosis of the phalanges of the 4th toe
periorbital cellulitis
axonal degeneration
progressive neurodegeneration
small end part of the big toe bone
broad pinkie toe
teratozoospermia
pimple
small thenar eminence
shallow acetabular fossa
polygonal renal calices
short middle phalanx of the little finger
aplasia/hypoplasia of the distal phalanx of the 2nd finger
heparan sulfate excretion in urine
narrow external auditory meatus
aplasia/hypoplasia of the 4th finger
parathyroid neoplasia
malignant schwannoma
dentinogenesis imperfecta of baby teeth
near sightedness
dacrystic seizures
delta-shaped epiphyses of the fingers
decreased igm
elevated levels of cholesta-5,7-dien-3beta-ol
decreased iga
aplasia/hypoplasia of the iris
decreased ige
elevated circulating creatine phosphokinase
cutaneous hyperpigmentation
absent eyelids
neutral hyperaminoaciduria
hydrometrocolpos
myocardial necrosis
atretic external auditory canal
abnormal peripheral nervous system synaptic transmission
common arterial trunk
cleft roof of mouth
inflammatory bowel disease
nasal polyposis
weak diaphragm
mongolian blue spot
madelung deformity
prominent posterior head
abnormality of the anterior commissure
reduced pancreatic beta cells
second metatarsal posteriorly placed
trunk ataxia
turribrachycephaly
low serum 1,25-dihydroxyvitamin d3
phalangeal hypoplasia
tracheal stenosis
philtrum, tented
curvature of the pinky toe
absent/underdeveloped cerebrum
hypoglycemic encephalopathy
anomia
intracranial calcifications
recurrent epistaxes
spotty hyperpigmentation
abasia
osteolytic defects of the proximal phalanx of the 2nd finger
cheekbone underdevelopment
acute leukemia
abnormality of the pubis
generalized hyperreflexia
low blood chloride levels
underdevelopment of nose
mildly reduced ejection fraction
abnormality of the seventh cranial nerve
abnormal alpha granule content
persistent fetal vasculature
pseudobulbar paralysis
diffuse white matter abnormalities
sclerosis of the distal phalanx of the hallux
exocrine pancreatic insufficiency
anterior staphyloma
abnormality of the palmar creases
antinuclear antibody positive
upper jaw excess
prominent palatine ridges
prominent posterior skull
chevron-shaped/cone-shaped radius
degeneration of cerebrum
abnormal ankle bones
distal widening of metacarpals
abnormal brain lactate level by mrs
thin eyebrow
degeneration of alpha-motor neurons in anterior horn cells of the spinal cord
bullet-shaped innermost bone of the middle finger
cortical myoclonus
hepatic amyloidosis
motor deterioration
left anterior fascicular block
hypernephroma
low hairline at back of neck
third degree atrioventricular block
hypertensive crisis
unerupted tooth
patchy hypo- and hyperpigmentation
bracket shaped end part of the outermost bone of big toe
confusional arousal
bracket epiphyses of the 2nd finger
loxia
abnormal kidney
abnormal pigmentation of oral mucous membrane
triggered by high-fat diet
communication delay
squamous cell cancer
central cleft upper lip
enteric intraneuronal nuclear inclusion bodies
small proximal phalanx of big toe
severe temper tantrums
cortical subperiosteal resorption of humeral metaphyses
homonymous hemianopsia
respiratory distress
curvature of the pinkie toe
low nasal bridge
esophoria
difficulty running
short metatarsal bones
sublingual cyst
gingival hyperplasia
malar excess
agenesis of the corpus callosum
generalized abnormality of skin
aplasia/hypoplasia of the pyramidal tract
globe retraction and deviation on adduction
underdevelopment of mandible
chromosomal breakage induced by mitomycin c
progressive spastic quadriplegia
carcinoid tumor
partial duplication of the outermost bone of the hand
bracket epiphysis of the proximal phalanx of the 2nd toe
proximal/middle symphalangism of 3rd toe
spina bifida occulta at l5
thin nostrils
abnormal cd4-positive, cd25-positive, alpha-beta regulatory t cell morphology
increased serum thyroid-stimulating hormone
pinched nasal tip
pes valgus
abnormal maturation of rib bones
abnormality of the glial cells
cystic hygroma
spontaneous joint hemorrhage
increased width of nasal ridge
facial paresis, bilateral
abnormality of peripheral nervous system electrophysiology
very short digits
broad eyebrows
curved innermost little toe bone
exercise-induced muscle pain
diaphoresis
bullet-shaped phalanges of the 2nd toe
radiation-induced chromosome instability
cholesteatoma
thyroiditis
onion bulb formation
prominent metopic ridge
blunt uvula
triangular end part of the outermost hand bones
obsolete aplasia/hypoplasia of the choroid
ciliary trichomegaly of lower eyelashes
hypoplastic/small middle phalanx of the 2nd toe
prominent nasolabial fold
abnormal innermost bone of middle finger
increased bone density in the outermost bone of the little toe
absent/small head and neck of thighbone
neoplasm of the vulva
failure of development of six year molar
oval face
limb muscle weakness
vertical hypoplasia of philtrum
recurrent bacterial meningitis
iga deposition in the glomerulus
triggered by menstruation
multicystic renal dysplasia
disproportionately small hands
hypergonadotrophic hypogonadism
fragmentation of the epiphyses of the hallux
abnormality of the phalanges of the 4th finger
memory problems
scapulohumeral synostosis
peripheral arterial stenosis
slender forearm bones
abnormality of the maxillary antrum
enlarged subarachnoid space
absent nasal bridge
basal ganglia dysgenesis
exercise intolerance
enlarged nostril
abnormality of b cell physiology
onset in utero
lingual telangiectasia
large elongated pulp chamber
anomaly of the ischium
hypoplastic middle phalanges
mental retardation, severe
increased serum triglycerides
congenital neutropenia
progressive muscular weakness
footdrop
supernumerary oral frenum
right-sided aortic arch
eyelid turned out
blind spot enlargment
wandering eye
wide bones of middle finger
abnormality of neck blood vessel
global brain atrophy
aplasia/hypoplasia of the middle phalanx of the 2nd toe
macrocytic dyserythropoietic anemia
finger stiffness
irregular epiphysis of the distal phalanx of the 2nd toe
external auditory meatal atresia
bilateral facial muscle weakness
abnormal pigmentation in sun-exposed skin
paraspinal muscle hypertrophy
abnormal maturation of foot bones
hypoplastic/small proximal phalanx of the 2nd toe
absent/small outermost little toe bone
bowed femurs
flexion deformity of the knee
hypertension
bowed femura
round facial appearance
difficulty opening the eyelids
anterior bulging of the globe
deformity of the area between the eyebrows
uneven increase in bone density in the innermost bone of the little toe
enlarged end part of the outermost bone of the big toe
aplasia/hypoplasia of the proximal phalanges of the toes
bullet-shaped bones of 3rd toe
wavy clavicles
bony paranasal bossing
delayed speech acquisition
deep smile lines
increased chromosomal breakage
underdeveloped pancreas
agyrophilic inclusion bodies
restricted neck mobility due to contractures
complete duplication of thumb bones
abnormality of the subungual region
sleep-interrupting
flexion contractures of proximal interphalangeal joints
pharyngeal edema
sparse scalp hair at front of head
accessory fallopian tube
congenital cystic disease of the lung
deficient area between the eyebrows
inflammation of spinal cord
skeletal dysplasia
cupped radial metaphyses
hyperperistalsis
generalized muscle atrophy
decreased level of platelet-activating factor
hypoplasia/absence of hand bones
respiratory impairment
exacerbated by
decreased bone mineral density
triangular shaped proximal phalanx of the 2nd toe
hamartoma of tongue
retinal dysgenesis
rightward direction of ventricular apex
absent middle bone of pinkie finger
hypodysplasia of the corpus callosum
curved innermost bone of pinkie finger
triangular end part of the long bone of hand
aplasia/hypoplasia of the sternum
no light-evoked response on electroretinogram
broad proximal phalanx of the 2nd toe
increased bitemporal width
large, floppy ears
drug-induced agranulocytosis
gaps between teeth
hypotrophic mandibular condyle
partial/complete duplication of the distal phalanx of the 4th finger
triangular epiphysis of the distal phalanx of the 3rd finger
autonomic bladder dysfunction
abnormality of the renal collecting system
anti-gad antibody positivity
multiple non-erupting permanent teeth
hypoplastic pubis
chin with horizontal crease
duodenal adenocarcinoma
synovial chondromatosis of the elbow
dot-and-blot retinal hemorrhage
splayed end part of bone
vertebral hyperostosis
hypoplasia of the prostate
mildly increased creatine kinase
oligosacchariduria
tired easily
abnormality of the fifth cranial nerve
tiger tail banding
neoplasm of the respiratory system
clinically silent pituitary adenoma
irregular epiphyses of the phalanges of the hand
moderate generalized osteoporosis
absent/small middle bone of pinky finger
increased hepatic glycogen content
abnormality of ethmoid sinus
failure of development of deciduous maxillary central incisor
helix, darwin notch
multiple kidney cysts
increased bone density in foot bone
abnormality of the humeri
increased ige level
ivory epiphysis of the distal phalanx of the thumb
small end part of the innermost bone of the ring finger
abnormal vestibuloocular reflex
turned upper front teeth
4-hydroxyphenylacetic aciduria
contractures of the proximal interphalangeal joint of the 5th toe
periodic
delta-shaped epiphysis of the middle phalanx of the 3rd finger
congenital ptosis
brachymesophalangy
increased intramyocellular lipid droplets
complete duplication of the innermost bone of the pinky toe
fused neck
abnormality of potassium homeostasis
partial/complete duplication of phalanges of the 2nd finger
susceptibility to otitis media
cognitive delay
triangular end part of the middle bone of the pinkie toe
hyperplastic antihelix stem
absence of the parotid gland
abnormal echocardiogram
macular abnormality
encopresis
obsolete thin fingernail (obsolete)
abnormality of the lip
parietal foramina
arachnoid cysts
tubulointerstitial abnormality
large incisor
long cerebellar peduncles
abnormality of the end part of the middle bone of the 4th toe
enlarged tear gland
fragmentation of end part of the outermost bone of the ring finger
cervix cancer
iris cyst
increased percent tubular reabsorption of phosphorus
single brain ventricle
congenital hypotrichosis
absent/small innermost 4th toe bone
penile duplication
cone-shaped end part of the outermost bone of the 2nd toe
celiac axis syndrome
abnormal antihelix
ciliary dyskinesia
nephroblastoma
facial dystonia
abnormal timing of dark-adapted dim flash electroretinogram
abnormality of the ureters
muscle weakness, proximal
broad nasal base
scissor gait
curvature of middle finger
fragmentation of the epiphysis of the proximal phalanx of the 5th toe
abnormality of odontoid tissue
lipomas of upper eyelids
short dental roots
cerebellar medulloblastoma
absence of premolar
skin ulcer
red hair
congenital megalourethra
midline cleft lip
underdevelopment of the bronical cartilage
supernumerary metacarpal bones
abnormality of hyoglossus muscle
severe t-cell immunodeficiency
anomaly of the nose
dry eye syndrome
central corneal dystrophy
open tuba eustachii
large feet
uneven lower jaw
partial fusion of carpals
distal/middle symphalangism of 4th finger
earlobe crease
shuddering
abducens palsy
atrial situs inversus
hypoplastic acetabula
anal canal squamous cell carcinoma
centrilobular ground-glass opacification
dermatillomania
recurrent viral infections
retinal dystrophy, congenital, nonprogressive
depletion of mitochondrial dna in skeletal muscle tissue
arthrogryposis multiplex congenita
patchy sclerosis of the proximal phalanx of the 5th finger
onycholysis of distal fingernails
decreased tooth count
atretic auditory canal
papillary renal cell carcinoma
oculogyric crisis
infraorbital pigmentation
enlarged end part of the innermost bone of the big toe
agenesis of adult maxillary central incisor
recurrent pneumonia
palmar neurofibromas
trichorrhexis nodosa
extraocular muscle palsy
neurocardiogenic syncope
wide outermost bone of big toe
psychomotor developmental delay
abnormality of the end part of the outermost bone of the index finger
enlarged end part of the 4th toe bone
bracket-epiphyses of index finger
hemihypertrophy of lower limb
abnormality of ganglioside metabolism
aplasia/hypoplasia of thumbs
agenesis of eyelids
abnormality of the striate nucleus
shoulder bone exostoes
abnormality of the opening between the eyelids
cardiovascular abnormality
electrocardiographic long pr interval
broad metacarpals
abnormality of skull shape
lateral venous anomaly
lower limb peromelia
abnormality of natural killer cell count
small epiphysis of the middle phalanx of the 5th finger
large radial epiphyses
poor speech
malformation of the mandible
metopic synostosis
prominent smile lines
hypoplasia of subcondylar region of mandible
hypoplastic big toes
seborrheic eczema
abnormal calcification of the carpal bones
pectus carinatum
acne inversa
interlobular septal thickening
koenen's tumor
laterally displaced femoral heads
abnormal localization of kidney
unilateral kidney agenesis
hypoplastic/small distal phalanx of the 3rd toe
adrenocortical carcinoma
bracket shaped end part of the innermost bone of the pinky toe
abnormal of shape of nose
nearsightedness since birth
hypoplasia of facial skeleton
bone fusion involving the elbow
striae cutis distensae
gut malrotation
abnormal westergren sedimentation rate
hyperlipidemia
exaggerated cellular immune processes
retained primary teeth
corpus callosum atrophy
sunken eyes
neonatal inspiratory stridor
blotchy loss of skin color
obsolete pericentral retinal dystrophy
metaphyseal chondrodysplasia
abnormal testosterone level
glue ear
inability to speak
cone-shaped epiphysis of the proximal phalanx of the thumb
chronic obstructive airway disease from birth
grade iv preterm intraventricular hemorrhage
delayed ability to sit
corneal asymmetry
abnormality of the humeral metaphyses
minicore myopathy
hyperpigmentation in sun-exposed areas
progeroid facial appearance
cone-shaped epiphysis of the middle phalanx of the 5th finger
fused outermost bones of the pinky toe
pachydermia
cerebral cortical hemiatrophy
temporal artery tortuosity
acute lymphoblastic leukemia
abnormally shaped lung
bruxism
short proximal phalanges of thumb
big cranium present since birth
interphalangeal joint contracture of finger
abnormal shape of end part of bone
persistent fetal circulation
goitre
weakness of the vocal cords
fused innermost and middle bones of little finger
skeletal tumor
pseudoepiphyses of the 2nd toe
abnormal genital system morphology
coanal stenosis
hyperkinetic seizures
faltering weight secondary to recurrent infections
abnormal amplitude of pattern onset/offset vep
rudimentary vagina
heterotopias
congenital muscular torticollis
partial duplication of the distal phalanges of the hand
enlarged epiphysis of the middle phalanx of the 3rd toe
restless legs
congenital dislocation of the hips
enteric neuronal degeneration
low hanging nasal tip
sensorineural deafness
microspherocytosis
dense eyebrow
lingual wasting
respiratory alkalosis
enlarged adrenal glands
abnormal visual pursuit
partial/complete duplication of the middle bones of the toes
visual acuity test abnormality
curved innermost bone of the big toe
hypoplasia of the thymus
sacral lipoma
crowded upper incisors
flared, widened metaphyses
hypertrophy of tooth
anaplastic carcinoma of the skin
progressive respiratory failure
abnormal electrophysiology of sinoatrial node origin
widely spaced front teeth
tractional retinal detachment
short middle phalanx of the 2nd toe
congenital foot contraction deformities
duplication of the innermost bone of the pinkie toe
persistent urachus
bifid sternum
salt craving
decreased transverse dimension of maxilla
abnormality of 3rd finger phalanges
sterotyped behavior
partial fusion of the gums
dental problem
abnormality of the proximal phalanx of the 3rd toe
calcaneonavicular fusion
osteolytic defects of the distal phalanx of the thumb
bracket epiphyses of the distal phalanges of the hand
hyperreflexia in lower limbs
recurrent epistaxis
fragmentation of the end part of the middle bone of the little toe
stomatocytosis
abnormal size of the eyes
dumbbell shaped metaphysis
decreased size of eyeballs
absent end part of the ring finger bone
eeg with 4-5/second background activity
absent femur
squared-off platyspondyly
increased breadth of philtrum
spatulate thumbs
agitation
retinal bone corpuscle pigmentation
'sea blue' histiocytes
abnormality of the muscular palate
abnormality of the liver
patchy sclerosis of the phalanges of the toes
hand tremor
abnormality of thromboxane metabolism
specific pneumococcal antibody deficiency
recurrent infections in bronchi and lungs
severly high blood protein levels
clumping of elastic fibers in the dermis
dorsolumbar kyphosis
hypoplastic/small terminal phalanx of the little finger
widely spaced nipples
abnormally shaped pancreas
squint eyes
absent end part of the 1st long bone of foot
congenital drooping of both upper eyelids
relatively short spine
dystopia canthorum
elevated serum creatinine
abnormality of alkaline phosphatase activity
acth excess
dens invaginatus
enlarged epiphyses of the phalanges of the hand
curved distal phalanx of the 2nd finger
paradoxical respiration
short-limbed dwarfism
crackles
hip dysplasia
tight achilles tendon
exercise-induced lactic acidemia
absent thumbnail
triangular humerus
absent/underdeveloped thumb
epicanthal fold
nystagmus, pendular
hyperpepsinogenemia i
low neutrophil count
tricholemmoma
sclerosis of the middle phalanx of the 2nd finger
soft teeth
renal angiomyolipoma
hyperostosis of facial skeleton
jerking of facial muscles
duplicated 1st long bone of foot
rupture of tendons
photopsia
small end part of the outermost bone of the 2nd toe
broad 3rd toe
excessive wrinkled skin of palms and soles
crooked incisors
anomaly of the nasolabial region
progressive ataxia
abnormality of the salivary glands
eeg with frontal focal spikes
shortening of the arms
hepatic necrosis
tubular atrophy
absence of lower front baby tooth
fallopian tube cyst
thyroid hypoplasia
obsolete hoarse voice (caused by tumor impingement)
absent/small bones of 2nd toe
methylcobalamin deficiency
alveolar ridge overgrowth
abnormal level of neopterin
parathyroid absence
abnormal central response of multifocal electroretinogram
swelling of innermost hinge joints
triangular end part of the pinky finger
peripheral retinal neovascularization
aplasia/hypoplasia involving bones of the feet
sclerotic metaphyses
abnormal glycosylation
disorder of face
wide fingernails
eosinophilic fasciitis
posterior synechiae
broad, square ends of distal phalanges
deformity of the forehead
increased width of nasal bridge
dysmorphic facial features
abnormality of the reflex of the tensor tympanii muscle
periauricular fistulas
abnormality of the ureter
decreased naive b cell count
visible corneal nerve fibers
neonatal short-limbed dwarfism
primary palate bone deficiency
ketotic low blood sugar
ectropion
slipped end part of innermost thighbone
barrel-shaped chest
abnormality of primary molar morphology
electron transfer flavoprotein-ubiquinone oxidoreductase defect
decreased number of sweat glands
peg shaped mandibular incisor
diastema of the teeth
duplication of the innermost 3rd toe bone
increased width of chin
slender proximal phalanx of finger
percussion myotonia
eye muscle paralysis
broadening of femoral neck
aplasia of toe
decreased circulating gonadotropin level
polydactyly affecting the 2nd finger
metopic suture patent to nasal root
stippling of the epiphysis of the proximal phalanx of the 2nd finger
obsolete temporal displacement of maculae
lymphangioleiomyomatosis
multifocal breast cancer
punctate vasculitis skin lesions
fragmentation of end part of the outermost bone of pinky finger
increased vertical dimension of philtrum
irregular end part of the toe bones
focal absence of the external ear
skin adnexal neoplasm
prominent ear lobules
narrow, high-arched roof of mouth
hepatic encephalopathy
limb dysmetria
frank breech presentation
triangular shaped phalanges of the 4th toe
abnormality of the sacroiliac joint
stippling of the epiphysis of the 1st metacarpal
notch of lower alveolar process
short innermost bone of pinkie toe
extrapyramidal muscular rigidity
triangular epiphysis of the middle phalanx of the 2nd finger
cleft palate
triangular end part of the outermost bone of little finger
transient
hypoplasia of supraorbital margins
angiooedema
inactivating tshr defect
abnormality of the diaphragm
malformation of the chin
abnormality of movement
abnormality of basophils
congenital corneal dystrophy
lunate-triquetral fusion
lengthened pr interval on ekg
round radial epiphyses
fundus with peripheral bony spicules
decreased activity of methionine synthase
generalized arterial tortuosity
absent palmar crease
absent end part of the outermost bone of the index finger
genital defects
brachytelophalangy
punctate tarsal calcification
macular schisis
urinary tract anomalies
shortened long bone of hand
low-frequency hearing loss
asymmetric leg shortening
blockage of the rear opening of the nasal cavity
intercostal retractions
decreased size of tooth bud
fused bones of the midfoot
subependymal neuronal heterotopia
elevated iga
spider veins of mucosa of nose
patent ductus arteriosus after birth at term
hyphema
diarrhea, recurrent
unilocular splenic abscess
increased bone density in thumb bone
extensor plantar reflexes
absent vertebrae
premature loss of adult teeth
right-to-left shunt
brain iron deposition
hyperammonemia
complex focal seizures
white scaly skin
spinal dysraphism
loss of eyelashes
low blood monocyte number
granular corneal dystrophy
abnormality of the nasal dorsum
increased erythrocyte sedimentation rate
contractures of the large joints
late-onset form of familial alzheimer disease
agenesis of maxillary lateral incisor
decreased size of maxillary lateral incisor
late closure of soft spot on the skull
hypernatriuria
uneven mandible
short chordae tendineae of the mitral valve
respiratory insufficiency
abnormal transferrin isoelectric focusing
abnormality of bone formation of cranium
middle ear malformation
poikiloderma
premature thelarche
squared iliac bones
epidural hematoma
strokelike episodes
aplastic/hypoplastic toe phalanges
unilateral narrow palpebral fissure
hypertrophy of craniofacial bones
congenital absence of the vas deferens
absent/underdeveloped iris
double inlet right ventricle
increased red cell fragility
obstructive sleep apnea
degeneration of the spinal cord
congenital localized absence of skin
notched nasal tip
serum protein abnormality
optic neuropathy
sclerosis of the phalanges of the 2nd finger
hydranencephaly
chorioretinal dysplasia
beta-cell dysfunction
incomplete formation of palatine bone
increased serum bone-specific alkaline phosphatase
broad lower face
small anterior fontanelle
decreased testosterone
high blood isoleucine concentration
pancreatoblastoma
right and left cleft lip and palate
salmonella osteomyelitis
narrow, high iliac wings
ragged-red muscle fibers
emg: myokymic discharges
comedo
cross-eyed
generalized swelling of lymph nodes
cross-eyed present from birth
laryngeal carcinoma
vitreoretinopathy
low nasal root
patchy sclerosis of middle phalanx of finger
bone marrow biopsy shows erythroid hyperplasia
superficial thrombophlebitis
wide forearm bones
complete duplication of thumb phalanx
upturned nasal tips
rounded, sloping shoulders
corticotropin-releasing hormone receptor defect
bracket epiphyses
abnormality of z-joint
progressive degeneration of movement
soft voice
distal muscle degeneration
agenesis of permanent molar
telangiectases producing 'marbled' skin
thyroid microfollicular adenoma
cone-shaped end part of the toe bones
lip tumor
morphological abnormality of the inner ear
metaphyseal chondromatosis of ulna
prominent malar region
wavy ribs
abnormality of ethmoidal air cells
hydrocolpos
increased hemoglobin f
irregular tarsal bones
curved thumb phalanx
abnormality of circulating hormone level
single fiber emg abnormality
thoracocervical ectopia cordis
asymmetric lower limb shortness
mask-like facial appearance
maternal diabetes
sleep-wake cycle disturbance
palmoplantar pustulosis
abnormality of the frontal region of the face
triggered by smoking
tibialis muscle weakness
laryngeal calcification
hypoplasia of the small intestine
agoraphobia
lingual hyperplasia
weak extraocular muscles
cloacal exstrophy
increased bitemporal dimension
repetitive movements
abnormality of glycine metabolism
pear-shaped vertebrae
anorchism
heart murmurs
corticospinal tract atrophy
delayed self-feeding during toddler years
calf muscle hypoplasia
cleft of mandibular gingiva
pain in extremities
underdeveloped diaphragm
wide distal phalanx of thumb
ventricular septal defects
chills
increased bone density of end part of the middle hand bones
widely-spaced incisors
megacolon
conical bullet-shaped distal ends of phalanges
absent end part of middle finger bone
abnormality of renal excretion
inappropriate sexual behavior
absent natural killer cells
large open anterior fontanel
abnormality of extrinsic muscle of tongue
decreased movement in utero
speckled calcifications in end part of the innnermost bone of the little finger
alzheimer disease
spontaneous esophageal perforation
locomotor delay
proximal tubular defect
cortical gyral simplification
small epiphyses of the toes
prolonged russell's viper venom time
short innermost pinky finger bone
erythroderma
obsolete premature peripheral vascular disease
speckled calcifications in the end part of the outermost bone of the 3rd toe
temporal pattern
abnormal pulmonary circulation
sebaceous adenomas
delayed cranial suture closure
periostalgia
concave glabella
deviation of the hand or of fingers of the hand
thyroid macrofollicular adenoma
short innermost big toe bone
bulbous nasal tip
stippling of the epiphysis of the distal phalanx of the 3rd toe
irregular epiphysis of the distal phalanx of the 5th toe
aged facial appearance
visual field constriction
c1-c2 vertebral abnormality
2-4 toe syndactyly
broad ulnar metaphysis
cranial vault asymmetry
posterior vertebral body scalloping
large wrist bones
delayed psychomotor development
abnormality of the brain
big head present since birth
variable phenotypic severity
multiple mtdna deletions
hypoplasia of the antihelix
little foramen magnum
abnormality of the endomycoardium
left posterior fascicular block
olivopontocerebellar atrophy
irregular end part of the pinky finger bones
hyperthyroidism
carotid body tumors
hydrocephalus
triangular epiphyses of the phalanges of the hand
spinal stenosis
high blood corticotropin levels
cor triatriatrum
underdeveloped vertebrae
fused labia minora
severe hydrops fetalis
thyroid papillary carcinoma
best corrected visual acuity 0.5 logmar
'steppage' gait
sinoatrial block
decreased mineralization of skull
motor tics
buccal aphthous ulcers
contractures of the ankles
irregular epiphysis of the middle phalanx of the 5th toe
obsolete abnormality of the epiphyses of the terminal phalanx of the middle finger
limited neck range of motion
cervical ectopy
extrapyramidal syndrome
sclerotic radial metaphysis with longitudinal striations
charcot joint
submucous cleft lip
increased width of tip of nose
broad innermost bone of 2nd toe
decubitus ulcer
abnormal shape of spongy bone
agenesis of the septum pellucidum
wide 3rd toe
absent/underdeveloped fovea
abnormality of the infranasal depression
small odontoid peg
diffuse peripheral demyelination
radial deviation of the 3rd finger
absence of permanent upper front tooth
patchy sclerosis of the 1st metatarsal
dagger-shaped pulp calcifications
poor feeding
pericardial effusion
symphalangism of the distal and middle phalanges of the 3rd finger
segmental spinal muscular atrophy
hypersideremic anemia
stereotyped behavior
abnormality of the radial head
hearing loss, sensorineural
abnormal shape of upper motor neuron
decreased retinal pigmentation
testicular degeneration
first metacarpophalangeal joint synostosis
hyperkinesia
triangular epiphyses of the 3rd toe
irregular wide portion of upper limb bones
hyperkinesis
splitting of crown of tooth
aorto-ventricular tunnel
premature anterior fontanel closure
delayed ossification of the trapezoid bone
petechiae
dysuria
gait ataxia, progressive
increased u wave amplitude
broad nasal ridge
irregularity of vertebral bodies
small end part of the long bone of hand
recurrent cerebral hemorrhage
short proximal phalanx of the third toe
loss of temperature sensation
erythema nodosum
endodontic abnormality
kleeblattschaedel
conjunctival follicles
progressive muscle weakness
abnormality of tyrosine metabolism
edema of the basal ganglia
decreased activity of gonads
anomaly of the zygomatic bone
lack of delayed skin hypersensitivity reaction
microphthalmia, bilateral
xanthine nephrolithiasis
liver cysts
short middle phalanx of ring finger
absent/underdeveloped pinky finger bones
trouble remembering words
2-3 syndactyly of feet
down-slanting palpebral fissures
gastrointestinal obstruction
ebstein's anomaly of the tricuspid valve
taurodontism
metacarpophalangeal joint contracture
cone-shaped end part of the middle hand bones
slit-like nostrils
proximal renal tubulopathy
missing primary palate bone
underdevelopment of neck muscle
fused outermost and middle index finger bones
high schoulder blade
intractable diarrhea
absent end part of the innermost bone of little finger
wide cranial sutures
primary small cell carcinoma of the skin
collateral biliary veins
broad thumb
hypoplastic tragus
abnormality of the rectum
short outermost pinkie finger bone
abnormality of the sweat gland
calcific band keratopathy
insulin resistant diabetes mellitus
fragmentation of the epiphyses of the middle phalanges of the hand
uneven increase in bone density in the innermost bone of the big toe
lipid accumulation in skeletal muscle
uric acid nephrolithiasis
serpiginous stem of antihelix
aplasia of frontal sinus
abnormality of the epiphysis of the middle phalanx of the 5th finger
elevated liver enzymes
retrograde ejaculation
diffuse palmoplantar hyperkeratosis
congestive heart failure
anomaly of the parotid gland
absent 4th long bone of hand
enlarged end part of the outermost bone of pinky finger
right ventricular abnormality
bilobed gallbladder
absent/underdeveloped kneecap
excessive face hair
accessory scaphoid
scaly skin
tarsal osteovalgus
shoulder dimples
increased serum ft3
short pinky toe
wasting syndrome
increased bone density in the innermost bone of the pinkie toe
cerebral arteriovenous malformation
congenital night blindness
aplasia/hypoplasia of the epiglottis
increased height of philtrum
bifid terminal phalanges
abnormal eye movements, paroxysmal
nail dyschromia
erlenmeyer flask shaped thighbone
absent outer dynein arms
newborn gammaglobulin deficiency
retinal malformations
horizontal deficiency of face
proximal fibular overgrowth
enlarged end part of the pinky finger bones
hypoplastic/small distal phalanx of the 5th toe
ossifying fibroma of the jaw
hypoplasia of glabella
cobblestone lissencephaly
absent fifth toenail
abnormal uterus bleeding
camptodactyly of 2nd finger
increased hba1c levels
exercise-induced asthma
aggressive papillary middle ear tumor
hypoplastic thumbnail
born with teeth
frequent, severe infections
enlarged parathyroid glands
overgrowth and curving of fingernail
aplasia/hypoplasia of metatarsal bones
cancer of the larynx
ulnar bowing
acral lentiginous melanoma
incomplete mineralization of palatine bone
abnormal lactate dehydrogenase activity
doll-like facies
missing uvula
confetti-like hypopigmented macules
abnormal antehelix
neck flexion weakness
coarse humeral trabeculae
knee dislocation
decreased palmar creases
metaphyseal abnormality of the upper limbs
abnormal transitional b cell count
absent distal phalanges of the hand
muscle wasting
deeply set eye
malformation of tooth enamel
decreased width of the skull
cataracts, cortical pulverulent
bowed ulna
bracket shaped end part of the outermost bone of the 2nd toe
rhomboid shaped skull
broad distal phalanx
missing maxillary lateral incisor
cephalohaematoma
reduced csf dopamine level
increased marginal zone b cell count
increased size of lower jaw
broad distal phalanx of the 4th finger
transverse deficiency of face
absent/underdeveloped lens
absent/hypoplastic paranasal sinuses
short outer part of limbs
abnormal glucose homeostasis
factor xiii subunit b deficiency
short stature
absent/small innermost pinky finger bone
limbal edema
bracket epiphyses of the 4th finger
underdeveloped uterus
narrow nostrils
thickened skin folds of neck
complete duplication of the distal phalanx of the third toe
deformity of the maxilla
absence of radius and ulna
peripheral neutropenia
fragmentation of end part of the middle bone of the little finger
foot oligodactyly
big face
abnormality of end part of long bone of hand
alopecia universalis
abnormality of the mitral valve
hodgkin lymphoma
displacement of the 3rd toe
broad distal phalanx of the 3rd finger
dorsal subluxation of ulna
distal phalangeal hypoplasia
parathyroid disease
distal muscular weakness
abnormal shape of the end part of the vertebra bone
low weight
rootless teeth
abnormality of neurotransmitter metabolism
abnormality of neutrophil physiology
primary angle closure glaucoma
midline cleft lip/palate
narrow sciatic notches
fused 4th-5th long bones of hand
peripheral dysmyelination
absent in utero rib ossification
speckled calcifications in end part of innermost long bone of upper arm
fullness of upper eyelid
5-oxoprolinase deficiency
broad fingernails
irregular epiphyses of the distal phalanges of the hand
scapuloperoneal myopathy
elongated radius
facial palsy caused by overgrowth of cranial bones
hypoplastic labia majora
superficial episcleral hyperemia
hyperalbuminemia
alveolar cell carcinoma
absent toenail
abnormal gait
bulbous tips of toes
long innermost finger bone
abnormality of serine metabolism
abnormality of the sphenoidal sinus
symphalangism affecting the proximal phalanx of the 3rd finger
absent/small innermost pinkie finger bone
flattened femoral epiphysis
abnormality of t cells
asymmetric growth
narrow intervertebral disc spaces
flexion contracture of knees
cone-shaped epiphyses of phalanges 2 to 5
extradural haematoma
abnormality of the incus
nodular melanoma
underdeveloped ovary
decreased volume of paranasal sinus
stippling of the epiphyses of the distal phalanges of the hand
glabellar reflex
bulging forehead
abnormality of cells of the granulocytic lineage
abnormality of zinn's membrane
external acoustic meatus atresia
eye disease
abnormality of terminal phalanx of middle-finger
canker sore
abnormality of the femur
membranous choanal atresia
severe carpal ossification delay
respiratory problem
sparse bone trabeculae
decreased facial muscle movement
hip joint pain
flattended head of long bone in upper arm
decreased achilles reflex
conoventricular ventricular septal defect
heparin co-factor ii deficiency
lung segmentation defects
multiple joint contractures
squamous skin carcinoma
selective proximal tubular damage
cigarette paper scarring
dysgerminoma
compensatory head tilt/chin elevation
intermittent lactic acidemia
pugilistic facies
recurrent abdominal hernia
poor wound healing
bowel duplication
chromosomal breakage induced by ionizing radiation
decreased number of cd8+ t cells
early loss of permanent teeth
increased cpk
enlarged epiphysis of the proximal phalanx of the 3rd toe
helix, crus, tragal bridge
1-2 toe syndactyly
partial cleft of the upper lip
absent/shortened outer dynein arms
refractory macrocytic anemia
bifid tip of nose
facial hemangioma
obsolete macrocephaly due to hydrocephalus
triangular shaped pinky finger bones
speckled calcifications in the end part of the innermost bone of the pinkie toe
radial bowing
hypoplasia of the vestibule of the inner ear
bilateral clubfoot
subcortical dementia
deficiency of facial musculature
hypoplastic sweat glands
abnormality of the musculature
retinal arterial macroaneurysms
more teeth than normal
complement deficiency
enlarged end part of the middle bone of the pinky finger
disproportionate short-trunk short stature
increased bone density in the 1st long bone of foot
episodic ketoacidosis
neoplasm of the larynx
duplication of bones involving the upper extremities
red and sore lips
iris nevus
midline facial capillary hemangioma
short middle finger phalanges
elevated long chain fatty acids
hypertrophy of nasal tip
reduced oct-measured foveal thickness
bilateral fifth digit clinodactyly
teleangiectases of soles
hypoplastic spinal processes
papillary thyroid carcinoma
jerking
salt wasting
disseminated intravascular coagulation
complete ophthalmoplegia
dysplastic corpus callosum
abnormality of midbrain morphology
susceptibility to pyogenic infection
bracket shaped end part of pinkie toe bone
complete duplication of the outermost bone of the 4th toe
absent/underdeveloped ear
subungual hyperkeratotic fragments
abnormal kidney location
hyposegmentation of neutrophil nuclei
malformation of the lacrimal bone
hypotrophic maxilla
facial dysmorphism
hallux valgus
paralysis of all four limbs
projection of scalp hair onto lateral cheek
abnormality of leucine metabolism
periorbital edema
severe lactic acidosis
distal intestinal obstruction syndrome
neoplasia of the biliary tract
ventricular extrasystoles
short condylar process of mandible
carpal bone fusion
anemia, dyserythropoietic
3-methylglutaconicaciduria
melasma
hypoplasia of the primary palate bone
proximal placement of thumb
irregular humeral epiphyses
thin facies
partial/complete duplication of the distal phalanx of the 2nd finger
hypoplastic iliac alae
retractile testicle
stillbirth
pseudoepiphysis of the 1st metacarpal
severely dysplastic cerebellum
gall bladder perforation
genitourinary dysplasia
abnormal shape of platelets
abnormality of epiphysis morphology
shoulder-girdle muscle atrophy
large hyperpigmented retinal spots
sclerosis of cranial base
delayed closure of fontanels
irregular proximal femoral metaphyses
hypertriglyceridemia
short distal phalanx of the fifth toe
flattened acetabular roof
abnormal brainstem mri signal intensity
bullet-shaped middle pinkie finger bone
abnormality of the musculature of the pelvis
triangular facies
multiple suture craniosynostosis
spontaneous platelet aggregation
large vessel vasculitis
affective auras
inverted v-shaped upper lip
subependymal gray matter heterotopia
abnormal ossification of the sacrum
abnormality of the maxillary sinus
narrow philtrum
sloping ulnar metaphysis
cortical nephrocalcinosis
normal density transverse bands in metaphyses of the upper limbs
emg: positive sharp waves
symmetrical rhizomelic limb shortening
deep overbite
scapuloperoneal amyotrophy
obsolete large epiphysis of terminal phalanx of the middle finger
widened femoral necks
decreased diffusing capacity
agenesis of lower eyelashes
increased hepatocellular lipid droplets
rotated upper front teeth
yellow/white lesions of the macula
autosomal dominant inheritance
os odontoideum
displacement of the little toe
delayed eruption of milk teeth
eeg with spike-wave complexes (>3.5 hz)
microprolactinoma
hyperglycinemia
abnormality of nitrogen compound homeostasis
malformation of the bones of the nose
progressive vision loss
microdontia of deciduous teeth
thick calvaria
speckled calcifications in of the end part of the innermost bone of the 3rd toe
abnormality of the palate
multiple myeloma
anonychia
absent epiphysis of the distal phalanx of the 3rd toe
abnormality of pineal physiology
foot polydactyly
bowed radius
cerebral ischemia
enlarged wide portion of long bone of upper arm
stippling of the epiphysis of the middle phalanx of the 5th finger
double vagina
malformation of facial skeleton
microstomia
horizontal hyperplasia of face
hypoplastic scapula
increased pulmonary artery occlusion pressure
chronic otitis media
abnormality of the mandible
uneven increase in bone density in the outermost bone of the 3rd finger
small pinnae
generalized tonic clonic seizures
abnormality of the sinuses
mammary gland aplasia
primary hypothyroidism
gastric duplication cyst
knee contractures
curved proximal phalanges of the hand
developmental regression
absent digital bone of the 3rd toe
prepartum hemorrhage
edema of the upper limbs
thalamic calcification
knock knees
elevated urinary dopamine
porokeratosis
hypoactive bowel sounds
benign genitourinary tract neoplasm
decreased/absent deep tendon reflexes
absent/small innermost little finger bone
increased bone density of end part of the middle bone of the pinkie toe
low-set posteriorly rotated ears
retinal telangiectasia
pale optic discs
thick upper lip
rhabdomyolysis
xanthinuria
anti-liver cytosol antibody-1 positivity
nasal hypoplasia
colorectal polyposis
abnormally broad great toes
obliteration of the pulp chamber
hypochloriduria
megaloblastic bone marrow
worsened by activity
cold-induced hand cramps
small end part of thumb innermost long bone
short index fingers and second toes
hypokalemic metabolic alkalosis
asymmetry of the posterior head
abnormal onset of bleeding
decreased liver function
hamartoma of the orbital region
transposition of great vessels
hyperphagia
lower jaw shifted to one side
persistent fetal fingertip pads
lingual hamartoma
ruptured spleen
increased fracture rate
small end part of the middle bone of the 3rd toe
irregular epiphyses of the upper limbs
pustules
autistic behavior
absent upper eyelashes
anterior creases of earlobe
decreased urinary copper concentration
overgrowth of external genitalia
abnormality of the 2nd long bone of hand
increased linear growth
small, conical teeth
decreased mitochondrial malic enzyme
absent eyebrows
humeral radial synostosis
agenesis of eyelashes
double eyebrow
retruded dorsum of nose
scimitar anomaly
drop seizures
adhesion of the temporomandibular joint
neurodevelopmental delay
ventriculomegaly
shortened nose
abnormal memory b cell count
tremor of a body part
trachyonychia
decreased serum progesterone
decreased csf amyloid level
abnormality of the tongue muscle
abnormal clavicles
insulin-dependent but ketosis-resistant diabetes
osseous syndactyly of the fingers
prominent tongue
persistent primary teeth
claw hand deformities
myeloschisis
fragmentation of the end part of the middle bone of the 2nd toe
elevated urinary 3-hydroxybutyric acid
dermal atrophy
immune deficiency
loss of corticomedullary differentiation
abnormality of the genital system
flattened, squared-off end part of tubular bones
renal urothelial carcinoma
pleural mesothelioma
dislocated head of thigh bone
blotching pigmentation of the skin
dysgenesis of the basal ganglia
obsolete prematurely fused epiphysis of terminal phalanx of the middle finger
irregular epiphysis of the distal phalanx of the 3rd toe
missing lower central incisor milk tooth
dwarfism, short-limbed
opisthotonos
conductive hearing loss
right ventricular anomalous muscle bundle
congenital malformation of the great arteries
fused wrist bones
abnormal cardiac ventricular function
underdeveloped colon
apraxia of speech
narrow mandible
complete duplication of the 1st metatarsal
absent/small collarbone
abnormality of inferior crus of antihelix
absent pigmentation of the limbs
neuroblastic tumors
trophic changes related to pain
long hallux
antineutrophil antibody positivity
smooth muscle antibody positive
large testis
frontal cortical atrophy
cardiac conduction abnormalities
carnitine deficiency
decreased beta-galactosidase activity
crossover toe
vitamin k deficiency
opacification of the corneal epithelium
abnormality of dna repair
abnormality of hair growth
absence of mandibular lateral incisor
obsolete choroidal degeneration
impaired fine fotor skills
obligate
inflammation of cartilage of pinna
absent middle bone of index finger
hypoplasia of tongue frenulum
occult spinal dysraphism
absent pubic hair
abnormal light-adapted single flash electroretinogram
palmar hyperhidrosis
liver steatosis
supernumerary maxillary incisor
synostosis involving metatarsal bones
abnormal synaptic transmission at the neuromuscular junction
absent little finger
abnormality of lateral ventricle
small earlobe
tapered long bones of hand
severe postnatal growth deficiency
large hamate bone
decreased serum complement c9
decreased serum complement c4
increased facial hair growth
absent/small external ear
decreased serum complement c3
pituitary growth hormone cell adenoma
loss of subcutaneous adipose tissue in limbs
bovine arch
supranuclear upgaze plasy
abnormality of the pinky finger
diffuse slow skin atrophy
prominent posterior cranium
complete right sided absence of pericardium
abnormality of the middle phalanx of the 2nd toe
hoarseness
absent glenoid fossa
small eyelid
recurrent pancreatitis
complete heart block with broad rs complexes
recurrent lower respiratory tract infections
lymphadenopathy
absent/small long bone of foot
hypoplasia of the corpus callosum
peripheral nervous system disease
darwin notch of helix
camptocormia
patent ostium secundum
eeg with generalized polyspikes
abnormality of levator labii superioris
transient psychotic episodes
developmental delay
bilateral cleft palate
glucocorticoid-remediable familial primary aldosteronism
abnormal oct-measured macular thickness
hypoplasia of the dental root
protruding forehead
myodesopsia
tumor of salivary gland
short outermost bone of ring finger
broad outermost bone of the thumb
contracture of post-cervical muscles
pseudo-fractures
increased size of tongue
increased density of long bones
hyperkalemic periodic paralysis
thickening of the lateral border of the shoulder blade
asymmetry of the mandible
postural instability
fragmentation of the epiphysis of the middle phalanx of the 2nd toe
absent/underdeveloped innermost ring finger bone
wide hand bones
corneal opacity
accelerated wrist bone maturation
tumor of the vulva
lower eyelid retraction
abnormal ekg
premature closure of epiphyses
recurrent bladder infections
bifid thoracic vertebrae
flexion contracture of the hallux
duplicated first metatarsals
absent nasal cartilage
hemianopsia
abnormal motor evoked potentials in the upper limb
high immunoglobulin e
curved middle bone of the middle finger
islet of langerhans hyperplasia
retinal pigmented bone spicules
aplasia/hypoplasia involving bones of the lower limbs
biliary atresia
decrease in mandibular movement
abnormality of the middle finger
delayed milestones
gastro pain
extra ring finger
exercise-induced lactic acidosis
cleft of upper lip
irregular epiphysis of the proximal phalanx of the 5th finger
bilateral lambdoid craniosynostosis
thin toenails
increased bone density in the innermost bone of the 2nd toe
increased fucosylation of o-linked protein glycosylation
flaking skin
abnormally heaving bleeding during menstruation
abnormal morphology of the ocular adnexa
respiratory tract infection
argininuria
nonimmune hydrops
fetal renal pelvic dilatation
status epilepticus
abnormal shape of hypothalamus
tetraparesis
eyelid twitching
small distal femoral epiphysis
deformity of the malar bones
short proximal phalanx of the 5th toe
abnormality of the submaxillary glands
lack of sweat glands
increased volume of frontal sinus
absent peripheral blood t cells
absent end part of pinkie finger bone
sphincter of oddi dysfunction
abnormal length of corpus callosum
downturned corners of the mouth
congenital curved nail of fourth toe
abnormality of external carotid artery
dysmelia
increased thickness of bone of skull base
cerebral artery aneurysm
papillary cystadenoma of the epididymis
irregular end part of the outermost bone of the 2nd toe
decreased activity of cytochrome c oxidase in muscle tissue
decreased mitochondrial complex iii activity in liver tissue
alopecia, complete
low urine calcium levels
obsolete nonprogressive congenital retinal dystrophy
nasopharyngeal neoplasm
stenosis of the external auditory canal
flared metaphysis of lower limb bone
aspergillus infections, recurrent
symphalangism affecting the phalanges of the hallux
cone shaped front tooth
cervical ectropion
sudomotor dysfunction
abnormality of musculature of soft palate
narrow lower face
rudimentary uterus
hypotrophic zygomatic bone
triangular-shaped open mouth
hyperostosis of skull base
missing nose
distal muscle atrophy, upper and lower limbs
delayed eruption of deciduous teeth
absent smooth pursuit
irregular epiphyses of the middle phalanges of the hand
hypoplastic fourth metacarpal
peripheral blood clot
abnormality of the fibrinolytic system
ataxia of gait
lipedema
bulbar signs
echolalia
mediastinal cystic lymphangioma
jejunal atresia
fractured forearm bones
renal tubular necrosis
muscle atrophy
strawberry mark
absent/underdeveloped thymus
hyperhistidinemia
osteochondrosis
ascending aortic aneurysm
clay colored stools
impaired vibratory sense
absent middle bone of little toe
absent/small outermost bones of toe
sympodia
hypoplasia of the vestibular nerve
increased transverse length of eyebrow
malformation of the external nose
advanced maturation of the hand bones
sclerosis of proximal finger phalanx
abnormality of the eyelashes
absent/hypoplastic middle phalanges
abnormal level of phospholipids
abnormality of the cerebral vasculature
vitreous amyloid deposits
curved thumb deviated towards palm
supernumerary nostrils
broad mouth
increased urinary epinephrine
absent or hypoplastic thumbs
perifolliculitis
deformity of the nares
nasal tip, broad
vitreous veils
fetal ultrasound soft marker
bulbar palsies
frontal encephalocele
tented mouth
asymmetry of nostrils
ephelis of lip
periventricular cysts
enteropathy
hyperextensibility at elbow
low urine potassium levels
eeg with frontal focal spike waves
multifocal splenic abscess
abnormality of urine hormone level
missing permanent mandibular lateral incisor
large joint dislocations
absent/underdeveloped testes
recurrent thrombosis
supraauricular fistula
speckled calcifications in the end part of the outermost bone of the ring finger
decreased breadth of face
widely-spaced nipples
bartholin gland carcinoma
generalized trichodysplasia
positional plagiocephaly
osteomyelitis due to immunodeficiency
behavioral disturbances
short toe bones
deformed head of long bone in upper arm
abnormality of globe size
broad outermost little finger bone
agenesis of condylar neck of mandible
chemodectoma
gingivitis
hypoplastic hallux
honeycomb palmoplantar keratoderma
peripheral artery disease
hypermenorrhea
fragmented epiphyses of the upper limbs
elevated diastolic blood pressure
macular hypoplasia
transitional cell bladder carcinoma
itchy skin
anteriorly placed anus
cone-shaped epiphyses of the 3rd finger
acth-independent hypercortisolemia
aplasia of the nose
displaced pupil
abnormal shape of joints
decreased upper labial height
abnormality of t cell count
decreased pneumatization of paranasal sinus
severe viral infections
abnormal shape of long bone
absent epiphysis of the distal phalanx of the 2nd toe
cone-shaped end part of the outermost bone of the pinkie toe
pleural effusion
alveolar proteinosis
contractures involving the hands
aplasia of the proximal phalanx of the 4th toe
branchial cysts
emg: myopathy
duplication of distal thumb phalanx
absent muscle dystrophin expression
uneven increase in bone density in the outermost pinky toe bone
spondyloepiphyseal dysplasia tarda
esophageal obstruction
clinodactyly of the 4th finger
proximal muscle wasting
nodule below the skin
arterial dissection
marked muscular hypertrophy
decreased width of primary tooth
infundibular cyst
complete duplication of the middle bone of the little toe
wide unciform bone
abnormal temper tantrums
increased bone density of end part of the middle bone of pinkie finger
cerebral ventricular dilatation
overcrowding of teeth
inclusion body fibromatosis
sandy hair color
hypercapnia
impaired use of nonverbal behaviours
elbow hypertrichosis
abnormality of hand joint mobility
fused middle bones of pinkie finger
unossified sacrum
anisocytosis
abnormality of valine metabolism
decreased length of dental roots
delayed femoral head ossification
broad lateral eyebrow
increased circumference of foramen magnum
preaxial polydactyly of feet
absent/underdeveloped skeletal muscles
recurring nosebleed
neonatal insulin-dependent diabetes mellitus
abnormality of the femoral metaphysis
glycogen accumulation in muscle fiber lysosomes
uneven head shape
bullet-shaped phalanges of the 5th finger
broad innermost thumb bone
arteriovenous fistula
antinuclear antibody positivity
meconium ileus
decreased osteoclast count
depressed bridge of nose
reduced activity of n-acetylglucosaminyltransferase ii
abnormal ossification of the trapezium
spatial pattern
gynecomastia
enlarged end part of the innermost bone of little finger
midfacial capillary hemangioma
duplication of the phalanges of the 2nd toe
premature plaque build-up in arteries
small outermost bone of big toe
everted lower eyelids
abnormality of vitamin c metabolism
missing eye muscles
hemihypertrophy of upper limb
double first metacarpals
thick cerebral cortex
central primitive neuroectodermal tumor
osseous syndactyly of the toes
failure of development of eyelid
polydactyly
limited elbow flexion
abnormality of the ductus choledochus
absent thymus
broad long bones
pinched tip of nose
scalloping of vertebral bodies
heart block
renal hypoplasia/aplasia
acrobrachycephaly
flattening of cranial vault
aplasia cutis congenita
small end part of the 2nd toe bone
missing upper front tooth
abnormal retinal morphology on macular oct
hook-shaped collarbone
abnormal eye movements
bronchiolitis
constricted visual field
absent middle ear reflexes
failure of development of condylar head of mandible
mitochondrial depletion
abnormal platelet volume
athyroidal hypothyroidism
elevated brain choline level by mrs
cerebrospinal fluid pleocytosis
inflexible adherence to routines or rituals
androgen insufficiency
abnormality of fatty-acid anion metabolism
hypervalinemia
ivory epiphyses of the hallux
comodogenic acne
increased immunoglobulin level
fused toes
variable degree of villous atrophy
abnormality of inferior alveolar artery
amd
abnormality of magnesium homeostasis
upturned earlobe
decreased facial muscle strength
thickened folds on top of scalp
fragmentation of the epiphyses of the 2nd finger
glabellar capillary hemangioma
broad nasal septum
corneal ulceration
ischemic bone necrosis
abnormal sialylation of o-linked protein glycosylation
elongated superior cerebellar peduncles
pinhole visual acuity 1.3 logmar
thenar muscle atrophy
obsolete short curly eyelashes
malposition of the stomach
narrow toe
excessive growth of facial bones
cleft in skull base
aplasia of the distal phalanges of the toes
absent epiphysis of the proximal phalanx of the 2nd toe
absence of b cells
abnormal number of natural killer cells
circular face
absent 1st long bone of hand
osteoporotic metatarsal
small thorax
pes planus
medial cleft lip and palate
absence of the reflex of the tensor tympani muscle
overbite
first metacarpals hypoplastic
chorioretinal thinning
progressive renal insufficiency
retained baby teeth
absent/underdeveloped quadriceps
ectopic bone formation
wide innermost finger bones of the hand
normocytic hypoplastic anemia
telangiectases
large, prominent pinnae
membranous subvalvular aortic stenosis
abnormality of lacrimal sac
ivory epiphyses of the metacarpals
short pointed digital bones
increased thickness of skull cap
incomplete breech presentation
short upper eyelashes
abnormally shaped skull
central sleep apnoea
toe syndactyly, 2-3
increased serum alpha-fetoprotein
irregular epiphysis of the middle phalanx of the 2nd finger
hyperpigmentation of the fundus
complete duplication of the proximal phalanx of the 4th toe
aneurysm
curved distal phalanx of the 3rd finger
indistinct philtrum
peromelia
narrowing of an artery
abnormality of lingual nerve
lethal skeletal dysplasia
c3 nephropathy
mesomelic dwarfism
abnormal growth
protein-losing enteropathy
inability to close the eyelids at night
absent carpal bone
death in childhood
abnormality of the middle phalanges of the hand
ulnar deviated club hands
nevus simplex
acute liver failure
frequent urination
vertigo
age-related nuclear cataract
kidney malformation
renal salt-wasting
spontaneous esophageal rupture
absent end part of the middle hand bones
absent end part of the middle bone of the pinkie toe
aortopulmonary window
hypoplastic lacrimal gland
atretic occipital cephalocele
cone-shaped epiphysis of the middle phalanx of the 4th finger
osteoporosis
bowel obstruction
interlobular bile duct destruction
hypoplastic cerebellum
detachment of toenails
absent antihelix
abnormality of the integument
abnormal visual evoked responses
autoamputation
agenesis of condylar head of mandible
bullet-shaped 1st long bone of foot
long proximal phalanx of finger
abnormality of the sacrum
elevated serum cholesterol
esophageal epidermoid metaplasia
anterior hypopituitarism
obstruction of the rear opening of the nasal cavity
slender long bones with narrow diaphyses
acral hypertrophy
edema of the eyelids
abnormality of deciduous teeth
narrow septum of nose
short eyelashes
kidney degeneration
sherman's disease
abnormality of b-vitamin metabolism
absent end part of the outermost bone of the big toe
pectoralis minor aplasia
disproportionately large feet
muscle weakness, limb-girdle
patchy alopecia
fused innermost bone of middle finger
bracket epiphyses of the 3rd finger
hearing abnormality
abnormal consumption behavior
thin vermillion
irregular end part of finger bones
failure of development of upper jaw bones
abdominal aortic aneurysm
abnormality of the vagina
abnormality of the 4th long bone of hand
abnormality of xanthine metabolism
increased liver enzymes
elevated blood homocystine
absent toenails (anonychia)
elevated amniotic fluid alpha-fetoprotein
hypersexuality
recurrent aphthous stomatitis
lung adenocarcinoma
small epiphyses of the 5th toe
decreased width of nasal septum
increased volume of facial adipose tissue
decreased antithrombin iii
abnormality of the velum palatinum
flattening of head
partial fusion of innermost row of wrist bones
inability to move
enlarged capital femoral epiphyses
intimal fibrosis
dense spinal bone
impaired binding of factor viii to vwf
hyperconvex thumb nails
choroidal melanoma
spurred humeral metaphysis
eeg with parietal focal spikes
additional crus of antihelix
exaggerated startle response
rosette-forming glioneuronal tumor of the fourth ventricle
hypoplastic/small middle phalanx of the 4th toe
large hypophysial fossa
diabetes mellitus, noninsulin-dependent
scalp furrows
bethlem sign
nonossified fifth metatarsal
patchy sclerosis of 3rd toe phalanx
anaemia due to reduced life span of red cells
spasticity of the facial muscles
aplastic anemia
abnormality of the iris
dystrophic nails
retinal racemose haemangioma
aplasia of the eustachian tube
choroideremia
reduced brain n-acetyl aspartate level by magnetic resonance spectroscopy
abnormality of renal resorption
low serum 1,25-dihydroxycholecalciferol
hip contracture
nodular regenerative hyperplasia of liver
decreased female libido
spider slender fingers
nasal tip, retruded
bifid uvula
midline cleft of mandible
wide outermost bone of the 4th toe
partial duplication of the middle phalanx of the fourth toe
malrotation of the kidney
delayed maturation of the trapezium
abnormal atrioventricular conduction
underdevelopment of cheekbone
underdeveloped olfactory tract
triangular shaped distal phalanges of the hand
wasting of pec muscles
elevated circulating beta-2-microglobulin level
episcleritis
morbilliform rash
vitelliform-like retinal lesions
malformation of the maxilla
progressive alopecia
lip discoloration
vocal tics
muscle fatigue
patchy sclerosis of the distal phalanx of the thumb
exostoses
underdeveloped thumbnail
abnormality of cranial sutures
broad terminal phalanges
ectopic adrenal gland
epibulbar dermoids
absence of maxillary lateral incisor
deformity of facial soft tissue
midline nasal defect
language delay
hypoplastic/small middle phalanx of the 5th finger
broad outermost bone of the 4th toe
aphasia
absent muscle fiber merosin
broad middle bone of pinky finger
short stature, mesomelic
absence of upper lateral incisor
adenocarcinoma of the intestines
abnormality of the end part of the innermost bone of the 3rd toe
recurrent venous thrombosis
1-minute apgar score of 5
1-minute apgar score of 4
1-minute apgar score of 3
1-minute apgar score of 2
1-minute apgar score of 1
1-minute apgar score of 0
insulinoma
bracket epiphysis of the proximal phalanx of the 3rd toe
reduced volume of central subdivision of bed nucleus of stria terminalis
ivory epiphyses of the 4th toe
abnormality of sinus frontalis
internuclear ophthalmoplegia
slender distal phalanx of finger
end-stage renal failure
abnormality of earlobe
intestinal carcinoid
spinal tumors
abnormal motor evoked potentials in the lower limb
tight skin
shortened 2nd long bone of hand
premature epimetaphyseal fusion
poorly ossified calvarium
bile duct hyperplasia
lack of peer relationships
hammertoes
writer's cramp
spondylolithesis
obsolete vocal cord paralysis (caused by tumor impingement)
visual loss, progressive
spinal cord disease
abnormally low body temperature
missing twelve year molar
depressed tendon reflexes
irregular olecranon
drooling
outward turned upper lip
midface deficiency
decreased galactosylation of n-linked protein glycosylation
multiple bladder diverticula
hypotrichosis on scalp
irregular metaphyses
dysmorphic frontal region
feeding difficulties in infancy
anomaly of cartilage of nasal septum
curved bones of the 2nd toe
inappropriate laughter
kidney cancer
abnormality of transition element cation homeostasis
anterior open bite between upper and lower teeth
accessory spleens
abnormality of the end part of the middle bone of the pinkie toe
abnormality of the middle finger bones
gum recession
loss of truncal subcutaneous adipose tissue
broad xiphisternum
melanin pigment aggregation in hair shafts
absent septum pellucidum
abnormality of the distal phalanx of the 4th finger
neoplasm of the large intestine
abnormality of the innermost bone of the pinky toe
asterixis
small kidney on one side
retrorectal teratoma
absent/underdeveloped ribs
derangement of the temporomandibular joint
muscle weakness, diffuse
primary open angle glaucoma
absent or decreased deep tendon reflexes
prominent lower jaw
central fundal arteriolar microaneurysms
increased urinary potassium
abnormality of the little toe
wind-swept deformity of the knees
abnormal neuron shape
achalasia
failure of development of some teeth
absent/shortened dynein arms
abnormality of cartilage of nose
large head present since birth
increased bone density in the outermost bone of the ring finger
broad middle bone of the little toe
hypertrophic hemangioma
elevated glycated hemoglobin
horner's syndrome
medullary thyroid cancer
primary testicular failure
aplasia of the distal phalanx of the 4th toe
absent/small biceps
lymphatic vessel neoplasm
short limb dwarfism recognizable at birth
hyperplasia of hypophysial fossa
slow speed of hair growth
recurrent otitis media
distortion of face
leg length discrepancy
hypoplastic/small middle phalanx of ring finger
birdshot choroidal lesions
uneven increase in bone density of the 1st long bone of foot
club-shaped outermost end of thighbone
abnormal nasal base
aplasia/hypoplasia of the earlobes
abnormality of thumb phalanx
upward slanting palpebral fissures
metaphyseal spurs
distorted red blood cells resembling keratocytes
abnormality of end part of the long bone of the upper arm
increased blood pressure
ketoaciduria
small end part of the pinky toe bone
increased size of forehead
osteolytic defects of the distal phalanx of the 2nd finger
complete duplication of the proximal phalanges of the hand
premature delivery of affected infants
abnormality of the cheekbone
abnormality of glutamine metabolism
duplication of renal pelvis
combined hyperlipidaemia
true denticles
hypoplastic left heart
metacarpal synostosis
weakness of orbicularis oculi muscles
small tooth bud
telangiectases of palms and soles
hypoaesthesia
nonprogressive cerebellar ataxia
hearing loss, mixed
non-pruritic urticaria
bracket epiphyses of the hallux
corneal erosion
incomplete achromatopsia
kidney inflammation
abnormality of red blood cells
absent epiphyses of the 2nd finger
proportionate shortening of all digits
abnormal pelvis bone ossification
eyeballs bulging out
low chest circumference
pseudobulbar syndrome
decreased immature b cell count
midline nasal groove
small pulp chamber of tooth
gingival fibrous nodules
absent/small big toe bone
abnormality of muscle morphology
perifollicular hyperkeratosis
fused cervical vertebrae
patchy sclerosis of the distal phalanx of the 3rd toe
absent/underdeveloped skeleton
apraxias
cat cry
underdeveloped fallopian tube
aneurysmal bone cyst
c2-c3 subluxation
abnormality of 2nd finger phalanges
irregular, rachitic-like metaphyses
missing nasal cartilage
cone rod dystrophy
aplasia/hypoplasia of the nares
syndactyly of all toes
bilateral single transverse palmar creases
absent/underdeveloped thighbone
webbed 3rd-4th fingers
unilateral facial paralysis
pacs
localized dysplasia of tooth enamel
asymmetry of upper jaw
abnormality of urine homeostasis
abnormality of the sinew
cytochrome c oxidase deficiency in skeletal muscle
atrophic muscularis propria
philtrum with midline raphe
second finger clinodactyly
symphalangism affecting the distal phalanx of the 2nd toe
anal canal tumor
erythroblastopenia
decreased bmi
pyrimidine-responsive megaloblastic anemia
situs transversus
subvalvular aortic stenosis
multiple pupils
corneal perforation
chronic disseminated intravascular coagulation
bowed lower limbs
abnormal number of vertebrae
amyelia
epiphyseal abnormality of middle phalanx of the 2nd finger
abnormal fertility
inflammation of fat tissue
macrovesicular hepatic steatosis
crooked upper jaw
sclerosis of the middle phalanx of the 4th finger
meconium-stained amniotic fluid
protrusion of the maxillary incisors
inflamed gums
shivering
upper and lower gums fused together
absent end part of the innermost bone of pinkie finger
internal bleeding
decreased serum complement factor b
impaired horizontal smooth pursuit
face blindness
decreased serum complement factor h
decreased serum complement factor i
intramuscular haematoma
eyelid mass
aplasia/hypoplasia of the eyelid
small nipples
delayed patellae ossification
hypoplasia of the optic tract
brainstem dysplasia
abnormality of lower-limb metaphyses
retruded bridge of nose
sensory and motor nerve conduction abnormalities
fetal akinesia
generalized muscle wasting
impaired tactile sensation
absent/small 1st long bone of foot
birth weight > 90th percentile
diffuse skeletal muscle wasting
increased bone density of end part of the hand bones
multiple digital exostoses
renal tubular fanconi syndrome
perioral hyperpigmentation
acholia
urogenital sinus anomaly
hypoplastic ovary
low set ears
rounded lower back
hypoautofluorescent retinal lesion
abnormality of the pinkie finger bone
anterior segment ocular dysgenesis
misalignment of teeth
congenital neuroblastoma
hyperostosis of lower jaw
abnormality of malar bones
obsolete abnormality of the retinal pigment epithelium
abnormal fingernails
liver cell adenoma
absent index finger
abnormality of the cementum
laterally extended eyebrow
attention deficits
hypoglycosylation of alpha-dystroglycan
duplication of phalanx of 3rd finger
acrania
impaired left ventricular function
increased bone density in 3rd toe bone
upper jaw bone excess
delayed phalangeal epiphyseal ossification
flame-shaped retinal hemorrhage
deceleration of head growth
x-linked dominant inheritance
flat capital femoral epiphyses
supraauricular pit
abnormal isoelectric focusing of serum transferrin
diffuse, symmetrical osteosclerosis
increased serum serotonin
disharmonious carpal bone
low plasma citrulline
lytic defects of proximal index finger phalanx
increased erythrocyte osmotic fragility
pseudoepiphysis of the proximal phalanx of the hallux
noncancerous mole
gastroesophageal reflux disease
absent ossification of calvaria
rib abnormalities
median cleft palate
bifid terminal phalanx of the 5th finger
lymphoid leukemia
duodenal stenosis/atresia
missing cervical vertebrae
bird-like facial appearance
low serum calcitriol
grade i preterm intraventricular hemorrhage
symphalangism affecting the middle phalanx of the 2nd toe
narrow neck of thigh bone
bulging epiphyses
tendon xanthomas
exertional dyspnea
positional foot deformity
back pain
middle cerebral artery stenosis
superiorly displaced ears
prenatal growth retardation
multifocal eeg abnormality
atretic gallbladder
abnormal morphology of bones of the upper limbs
dark spot around tooth root on x-ray
metatarsus adductovarsus
jerking head movements
drop attacks
hypothyroidism
genetic heterogeneity
uneven increase in bone density in pinky toe bone
narrow palpebral fissure
overlapped upper front teeth
weakness of long finger extensor muscles
absent innermost bone of pinkie finger
frequent pyogenic infections
absent bone maturation of skullcap
defective lymphocyte apoptosis
elevated transaminases
hydroureter
symphalangism affecting the distal phalanx of the hallux
neuroma
periventricular white matter hyperintensities
nausea
increased distance between eye sockets
coxalgia
increased susceptibility to bacterial infections
curved proximal phalanx of the 3rd finger
bracket shaped end part of little toe bone
small end part of little finger bone
thickened, discolored skin under nail
cerebellar ataxia, progressive
wide humeral diaphysis
dysgraphia
parathormone-independent increased renal tubular calcium reabsorption
pulmonary carcinoid tumor
birth length < 3rd percentile
chin, h-shaped crease
abnormality of coordination
abnormality of hepatobiliary system physiology
small head circumference
hypoplasia of lingual frenum
sclerotic foci in hand bones
hypoplasia of the eccrine sweat glands
enlarged epiphysis of the proximal phalanx of the 4th finger
osteolytic defect of the proximal phalanx of the thumb
medial arterial calcification
eeg with intermittent slow activity
cone-shaped terminal thumb phalanx epiphysis
vitamin b2 deficiency
abnormal lymph node histology
iridocyclitis
short 5th metacarpal
fasciitis
scrotal pain
wedge shaped cranium
expanded phalanges with widened medullary cavities
irregular end part of the middle bone of the ring finger
decreased enamel calcification
colon tumor
hypoplasia of the upper eyelids
central nasal defect
renal hypoplasia
absent/underdeveloped middle 3rd toe bone
reticulate pigmentation of oral mucous membrane
ulnar deviation of the hand
corner fragments of ulnar metaphysis
one underdeveloped breast
malformation of hypophysial fossa
foveal retinal pigment epithelial loss on macular oct
eyelids stuck together
cervical spine fusion
hypoplasia of the ulna
hypoplasia of the uterus
flat facial shape
periodic hyperkalemic paralysis
galactosuria
abnormal maturation of breastbone
absence of tongue
giant seps
abnormality of habitus
hemorrhagic diathesis
tapered distal phalanges of the hand
absent testis
irregular teeth
triggered by cold temperature
absent/small pelvis
curved proximal phalanx of the hallux
tga ivs
hypoplastic terminal phalanges
somatosensory auras
aplasia/hypoplasia of the distal phalanx of the 4th finger
decreased amplitudes on flash visual electroretinogram
glomerular c3 deposition
scalp hypotrichosis
dermal translucency
herpetiform corneal ulcers
cleft of scrotum
limited movement of the wrist
abnormality of the 5th long bone of foot
irido-fundal coloboma
heterotopic ossification
hypercalciuria
congenital nystagmus
hemifacial enlargement
abnormality of epidermal morphology
dentinogenesis imperfecta of adult and baby teeth
short humeri
nasofrontal encephalocele
impaired ocular adduction
type c brachydactyly
episodic hypoventilation
big foramen magnum
cone-shaped epiphysis of the 1st metatarsal
paraphimosis
aplasia/hypoplasia of the palmar creases
deformity of the upper jaw bones
anophthalmia
mental deterioration
respiratory distress, episodic
limited mobility of proximal interphalangeal joint
septic arthritis
eye folds
narrow nasal dorsum
no auditory brainstem response
thrombocythemia
asymmetrical distribution of pattern reversal visual evoked potentials
scapular winging
reduced csf lactate
postprandial hypoglycemia
abnormal urine cytology
scalp hair loss
pallor of dorsal columns of the spinal cord
celiac artery compression
abnormal esr
cellulitis of lower eyelid
type 1 collagen overmodification
shell ear
double vision
aplasia of the middle phalanx of the 5th toe
cleft upper eyelid
myocarditis
gastroschisis
chronic sural axonal neuropathy
cone-shaped end part of the outermost bone of the pinky toe
triangular shaped middle finger bones of the hand
pharyngitis, recurrent
abnormality of histidine metabolism
decrease in high molecular weight von willebrand factor multimers
absent proximal phalanx of thumb
fused thumb bones
thoracic aorta calcification
decreased small intestinal mucosa lactase activity
speckled calcifications in end part of the outermost bone of the index finger
symphalangism affecting the proximal phalanges of the toes
distal radial epiphyseal osteolysis
pale optic disk
underdeveloped middle portion of the collarbone
pale optic disc
end-plate irregularities
underdeveloped 5th lumbar vertebrae
gastrointestinal pain
wide palpebral fissures
abnormal umbilical stump bleeding
accumulation of muscle fiber myotilin
curved phalanges of the 2nd toe
absent/small spleen
fifth digit distal phalangeal hypoplasia
deformity of the nasal ala
eeg with temporal sharp waves
distal/middle symphalangism of 2nd finger
leukocoria
large permanent maxillary central incisor
mild fetal hydronephrosis
delayed onset bleeding
congenital miosis
absent vagina
bilateral cleft lip and cleft palate
lower jaw hyperplasia
deviated tip of nose
progressive joint destruction
abnormality of pelvic girdle bone morphology
impaired vision
fiber splitting
high esr
chemodectomas
increased porosity of tooth enamel
'fingerprint profiles' ultrastructurally in cells
abnormality of the renal pelvis
aphalangia of the toes
absent/underdeveloped outermost big toe bone
anterior basal encephalocele
abnormality of blood and blood-forming tissues
supernumary cranial suture
goiter
curved proximal phalanx of the 2nd toe
truncal ataxia
waldenstrom macroglobulinemia
bracket shaped end part of pinky finger bone
fragmentation of the epiphysis of the distal phalanx of the hallux
helix, crimped
ivory epiphysis of terminal index finger phalanx
arterial cystic medial necrosis
retinal flecks
increased density of spinal bone
nerve conduction abnormalities
foveal inner retinal layer loss on macular oct
premature hardening of arteries
aplasia/hypoplasia of the cerebellar vermis
eyelid fluttering
oversalivation
white matter dysmyelination/demyelination
abnormality of the proximal ulnar epiphysis
irregular end part of the outermost long bone of the middle finger
abnormal insertion of umbilical cord
arcus lipoidis
enlarged hippocampus
decreased size of half of the face
osseous finger syndactyly
lower eyelid edema
broad phalanges of the hallux
aqueductal stenosis
small primary teeth
fused thalami
abnormality of blood vessel of head
reduced muscle dystrophin expression
rheumatoid arthritis, juvenile
abnormality of central motor function
elevated cd4-positive, cd25-positive regulatory t cell count
posterior retinal neovascularisation
st segment depression
enlarged joints
atypical scarring of skin
distal muscle atrophy
deep central tongue groove
lip telangiectases
moderate visual impairment
congenital retinal septum
cortical thickening of hand bones
humerus varus
triangular shaped middle bone of the middle finger
mitochondrial inheritance
abnormality of genioglossus muscle
alarm clock headache
symphalangism, distal
rapid neurologic deterioration
local myoclonic seizures
hypermobility of interphalangeal joints
nephrosis
generalized osteopenia
subungual fibroma
enlarged end part of the outermost bone of the ring finger
episodic hypertension
serum antinuclear antibody
arterial stenosis
partial duplication of big toe
abnormality of the metaphyses
'waddling' gait
hyperphalangy of the 2nd finger
female anorgasmia
perilobar nephrogenic rests
dental anomalies
osteosclerosis of the base of the skull
muscle pain on exercise
abnormal aryepiglottic folds
obsolete thin toenail
laryngeal hypoplasia
supernumerary vertebrae
talon cusp
myoclonic atonic seizures
thyroid follicular hyperplasia
camptodactyly of the fourth toe
abnormal shape of tendon
enterocolitis
macular edema
delayed coalescence of calcaneal ossification centers
sebaceous nevus
precocious eruption of secondary teeth
abnormality of cells of the monocyte/macrophage lineage
patchy atrophy of the retinal pigment epithelium
enlarged labia minora
neoplasm of the outer ear
phocomelia
cerebellar atrophy
atrophy of tongue surface
webbed fingers
discrete calcific stippling
spider veins of the oral cavity
repetitive compulsive behavior
long halluces
bifid thumb
finger syndactyly
abnormality of the eustachian tube
intracellular curvilinear profiles on ultrastructural analysis
stage 1 chronic kidney disease
decreased fetal movement
wide 1st long bone of foot
cone-shaped epiphysis of the proximal phalanx of the 3rd toe
partial duplication of the pinky finger bone
opisthotonus
kyphosis
increased creatine kinase after exercise
reduced anterior-posterior chest diameter
abnormal qrs complex
abnormality of adipose tissue
neutrophil inclusion bodies
absent epiphyses of the hallux
lumbar kyphosis
triangular shaped outermost bone of the 2nd finger
neuropathy
cystic renal dysplasia
decreased fetal movements
cone-shaped epiphysis of proximal index finger phalanx
hypoplasia of the radius
primary cns lymphoma
hepatitis, chronic active
extra-axial cerebrospinal fluid accumulation
decreased testicular size
unilateral coronal craniosynostosis
facial muscle weakness
olfactory auras
absent epiphyses of the distal phalanges of the hand
abnormal csf lactate level
abnormal facial shape
anterior beaking of lower thoracic vertebrae
small earlobes
allodynia
long chain 3 hydroxyacyl coa dehydrogenase deficiency
infantile muscular hypotonia
metacarpophalangeal synostosis
prominent interphalangeal joints
absent epiphyses of the thumb
undetectable dark-adapted electroretinogram
macrencephaly
elevated glycosylated hemoglobin
bilineage myelodysplasia
reduced factor vii activity
thin vestibular nerve
hypotrichosis of eyelashes
dilated vestibule of the inner ear
absent bones of the lower limbs
irregular end part of the index finger
abnormality of the premaxillary bone
anal fissure
flared radial metaphysis
tegumentary leishmaniasis susceptibility
prefrontal hypometabolism in fdg pet
memory impairment
abnormal vertebral segmentation and fusion
crowded maxillary incisors
uneven increase in bone density in thumb bone
enlarged polycystic ovaries
contracture of the distal interphalangeal joint of the 3rd toe
peg shaped incisors
congenital pseudoarthrosis of the clavicle
oral mucosal blisters
increased intervertebral space
abnormal calcification of the wrist bones
esophageal ulceration
respiratory insufficiency due to muscle weakness
nephromegaly
abnormality of the middle ear
hypoplastic biceps
cataracts
sudden central visual loss
sickled erythrocytes
uplifted earlobe
abnormal muscle fiber emerin
deviation of lower jaw
aplasia/hypoplasia involving the metacarpal bones
abnormality of the end part of outermost shankbone
pretragal duplication
beaten bronze macular sheen
osteonecrosis
distal/middle symphalangism of 3rd finger
broad proximal phalanx of the 4th toe
fused middle bones of 4th toe
peripheral retinal avascularization
thin hair texture
delta-shaped epiphysis of the middle phalanx of the 4th finger
absent middle phalanges
patent ductus arteriosus
dumbbell widening of long bone metaphyses
elevated liver function tests
cranial nerve palsies
gum enlargement
hypoplasia of columella
decreased size of condylar process of mandible
enteroviral dermatomyositis syndrome
cutaneous syndactyly of toes
strabismus
abnormally small parotid gland
hordeolum externum
grey eyelashes
thick hair
abnormality of the pubic bones
pseudoepiphysis of the distal phalanx of the hallux
increased levels of alpha fetoprotein
obsolete small anterior lens surface opacities
abnormality of the end part of the outermost bone of the little toe
infantile sensorineural hearing impairment
ivory epiphyses of the distal phalanges of the hand
small innermost upper end of calf bone
duplication of phalanx of the third toe
progressive acroosteolysis of the clavicle
small vertebrae
osteolytic defect of thumb phalanx
cavum septum pellucidum
unbalanced atrioventricular canal defect
bone fragility
absent/small middle finger
crooked tip of nose
cone-shaped epiphysis of the proximal phalanx of the little finger
liver cirrhosis
spoon-shaped nails
pathologic fractures
absent cartilage of nose
osteolytic defects of bones
pseudoepiphyses of hand bones
spinal deformities
retinal pigment epithelial atrophy
ivory epiphysis of the middle phalanx of the 5th toe
narrow cervical spinal canal
abnormality of the endometrium
vestibular fistula
agenesis of deciduous lower central incisor
criss-cross atrioventricular valves with superior-inferior ventricles
defect of vomer
giant pigmented hairy nevus
decreased serum testosterone level
decreased size of tooth
scalp tenderness
respiratory distress due to muscle weakness
decreased salivary flow
retinal hemorrhages
glutathione synthetase deficiency
large bregma sutures
decreased volume of pharynx
underdeveloped helices
circumlimbal hyperemia
polycystic ovaries
ruddy face
duplication of the distal phalanx of the 4th finger
obliteration of the calvarial diploe
complete duplication of the innermost bone of the thumb
absent end part of the innermost bone of the big toe
lack of skin coloration
erosive vitreoretinopathy
melotia
prominent calcaneus
temporomandibular joint crepitus
impaired ocular abduction
decreased serum methionine
limb apraxia
abnormality of cardiovascular system morphology
eyelids stay open at night
sleepy facial expression
protruding lower lip
broad, upturned nose
canted mandible
hypoplastic alae nasae
abnormality of digestive system morphology
triangular shaped distal phalanx of the 3rd finger
wide tip of nose
abnormality of the lacrimal punctum
abnormality of the periungual region
hyperplasia of tip of nose
congenital fibrosis of extraocular muscles
partial duplication of middle finger bones
abnormal dental position
decreased growth of paranasal sinus
delayed epiphyseal maturation
congenital kyphoscoliosis
excessive wrinkled skin
high levels of ketone bodies
hypokinesia
short-limbed dwarfism identifiable at birth
abnormal delivery
abnormal ossification of the trapezoid bone
diabetes mellitus type i
ectopic accessory finger-like appendage
absence of eyebrow
speckled calcifications in end part of the middle bone of the index finger
nasal hyperplasia
missing lower central incisor
cartilage destruction
irregular patellar margins
abnormal maturation of the pubic bone
short outermost bone of the pinkie toe
amniotic constriction rings of arms
hyperglutaminemia
mild prenatal growth deficiency
chronic middle ear infection
hyperplasia of uvula
notched innermost bone of thumb
pseudoepiphysis of the outermost bone of the middle finger
disproportionate short-trunked short stature
narrowing of small intestine
intramuscular hematomas
atrophy of facial adipose tissue
ala nasi, underdeveloped
triangular shaped proximal phalanx of the hallux
absent ear canal
absent foot
prominent life line
aplastic/hypoplastic toenails
aplasia/hypoplasia of the capital femoral epiphysis
abnormality of bone trabeculation
obsolete abnormal ossification of hand bones
intestinal atresia
reduction of neutrophil motility
fibroadenoma of the breast
scalp hair, thinning
hyperintensity of cerebral white matter on mri
wide chin
abnormality of finger
microsaccadic pursuit
central hernia
partial to total absence of eyelashes
increased bone density in the toe bone
fusion of middle ear ossicles
increased nuchal translucency
posteriorly-rotated ears
ascites
enlarged first metatarsal
neck flexor weakness
abnormality of the brainstem white matter
abnormality of glossopharyngeal nerve
abnormality of milk teeth
abnormality of the pyramidal tracts
enlarged cerebellum
thoracoabdominal wall defect
uneven increase in bone density in 4th toe bone
hyperplastic superior crus of antihelix
increased pineal volume
maternal teratogenic exposure
advanced tarsal ossification
limited cervical flexion
contractures of the joints of the lower limbs
eeg with hyperventilation-induced epileptiform discharges
branchial cleft cyst
vertical facial insufficiency
renal carcinoma
decreased activity of mitochondrial complex iii
lambdoid suture craniosynostosis
duplicated tragus
capuchin ears
morphological abnormality of the semicircular canal
diffuse muscle wasting
skin hyperpigmentation
abnormal heel bone
increased urine output
coronal suture synostosis
hypotonia, generalized
type 1 fibers relatively smaller than type 2 fibers
small heel bone
bilateral fetal pyelectasis
large fleshy ears
asymmetry of the shape of the ears
prolinemia
retruded nasal bridge
negative nitroblue tetrazolium reduction test
moyamoya phenomenon
iron-deficiency anemia
small end part of the innermost bone of the pinky toe
tooth with dentin dysplasia type i
steatorrhea
carp-like mouth
round back in infancy
fundus atrophy
jerky head movements
joint swelling onset late infancy
thick growth plates
night-blindness
ulnar deviation of index fingers
small brainstem
irregular wide portion of a long bone
decreased muscle mass
nonocclusive coronary artery disease
malformation of cartilage of nose
recurrent cutaneous abscess formation
inflammation of tonsils
bullet-shaped proximal bone of the 3rd toe
freezing of jaw joint
reduced maximal expiratory pressure
neuritic plaques
pinhole visual acuity 1.1 logmar
ovarian dermoid cyst
odontoma
agenesis of nasal bridge
abnormality of the region around the eye socket
ketonaciduria
cone-shaped end part of the pinky toe bone
eeg with generalized slow activity
uneven increase in bone density in outermost finger bone
aplasia/hypoplasia of the phalanges of the 3rd finger
hypertrophy of facial adipose tissue
depressed nasal root/bridge
spontaneous abortion
missing eyelashes
decreased immune function
paralytic lagophthalmos
abnormal coronary artery course
scapular weakness
reduced factor xiii, subunit a
reduced factor xiii, subunit b
small pituitary fossa
hyperplasia of lower jaw
glycopeptiduria
abnormality of urinary uric acid concentration
disturbance of tooth eruption
osteochondronecrosis
sclerosis of the distal phalanx of the 5th toe
finger pad telangiectases
irregular epiphyses of the hallux
demyelination in central white matter
decreased size of globe of eye
absence of lymph node germinal center
polycystic ovary
missing ribs
straight clavicles
abnormality of lacrimal artery
iron accumulation in globus pallidus
ovarian fibroma
oppenheim sign
cheilitis
impaired thrombin-induced platelet aggregation
pupillary constriction
night blindness, congenital stationary, complete
slender middle phalanx of finger
tapetoretinal degeneration
absence of labia majora
ventral shortening of foreskin
aplasia/hypoplasia of the diaphragm
overfolded ears
obsolete anaphylactoid purpura
columella, low
smooth philtrum
ciliary trichomegaly
bifid distal phalanx of hallux
curved phalanges of the 4th toe
low albumin
metopic depression
short middle bone of the pinkie finger
abnormality of temperature sensation
small scapulae
vaginal pruritus
distal limb muscle weakness
bullet-shaped proximal phalanges of the toes
severe photosensitivity
eyelid spasm
primary caesarian section
increased circulating renin level
undetectable visual evoked potentials
dwarfism, neonatal short-limbed
pseudohypoparathyroidism
abnormal neck curve
absent auditory canals
dilatation of renal calices
vision loss
hypothalamic gonadotropin-releasing hormone deficiency
long lower third of face
partial clonic seizure
marcus gunn pupil
absent middle finger phalanges
anisopoikilocytosis
elevated csf amyloid level
diffuse cerebral sclerosis
protruding area between the eyebrows
postural tachycardia
hypophonia
amelia involving the upper limbs
dull intelligence
urinary tract infections
flat glenoid fossa
irregular end part of thumb outermost bone
increased bone density in outermost finger bone
increased circulating cortisol level
loss of vision
dilated virchow-robin spaces
elevated hemoglobin a1c
hypoplastic middle finger phalanges
lip hyperpigmentation
autophagic vacuoles
missing eyeball
long upper lip
retinitis pigmentosa
abnormal bleeding
angioectasias of the oral cavity
cone-shaped thumb epiphyses
irregular radial metaphysis
holmes' tremor
absence of lower jaw bones
abnormal type ii collagen
hammertoe
crumpled long bone in upper arm
cone-shaped end part of the ring finger bones
hallucinatory auras
intestinal duplication
abnormal serum estriol
middle ear abnormalities
increased pulmonary arterial wedge pressure
waddling walk
type ii muscle fiber predominance
uterine leiomyoma
type 1 cryptotia
persistent hyaloid artery
dislocated kneecap
pili canaliculi
ankle contractures
increased serum iron
cleft helix
abnormality of the auricle
deviation of the 2nd toe
irregular humeral metaphyses
vitiligo
short proximal thumb phalanx
increased bone density in the outermost bone of the pinkie toe
muscle ache
small middle finger phalanges
high frequency sensorineural hearing impairment
radial deviation of finger
total immunoglobulin a deficiency
enlarged epiphysis of the proximal phalanx of the thumb
curved outermost bone of the little toe
asymmetry of the ears
immunoglobulin deficiency
dysmetric saccades
abnormal atrial arrangement
misalignment of incisors
triangular tongue
split nail
body temperature changes
delayed eruption of permanent teeth
hour glass shaped pituitary fossa
short mandibular rami
blue cone monochromacy
hypertrichosis of the eyebrow
disturbance of facial expression
small intestinal stenosis
late-closing fontanelle
small carpal bones
abnormality of molar
nodular goiter
urinary xanthine stones
medially deficient radial epiphyses
echogenic fetal bowel
glossitis
vacuolated blood lymphocytes
shortened metatarsals
decreased movement range in interphalangeal joints
leukocytosis
ankyloblepharon
bullet-shaped bone of big toe
atrophy/degeneration affecting the cerebrum
redundant, wrinkled skin of palms
absent/underdeveloped outermost bone of pinky finger
unilambdoid synostosis
bracket epiphysis of the middle phalanx of the 3rd finger
generalized osteoporosis
abnormal mitochondrial shape
premature eruption of teeth
molar shape of premolar
abnormal maturation of the hand bone
abnormality of the end part of the 3rd toe bone
chin with vertical furrow
mitral valve atresia
redundant skin on fingers
asymmetry of right and left side of face
abnormality of the wide portion of the femoral bone
malformation of the nares
duplication of the distal phalanx of the thumb
absent end part of thumb outermost bone
absent lower limb tendon reflexes
ulnar deviation of the 3rd finger
hepatic anomalous lobulation
foot deformity
syncope
rhomboid or triangular shaped 5th finger middle phalanx
irregular central macular autofluorescence
gastro-jejunal tube feeding in infancy
parafoveal telangiectasia
lordosis
muscle abnormality related to mitochondrial dysfunction
pure gonadal dysgenesis
decreased vibratory sense
rudimentary tongue
webbed skin of toes
foetor ex ore
impaired lymphocyte transformation with phytohemagglutinin
irregular innermost shinbone end part
hypotrophic lower jaw
speckled calcifications in end part of the innermost bone of ring finger
partial duplication of the middle bone of the 3rd finger
increased bone density of end part of the innermost bone of the 2nd toe
upturned nostrils
duodenal atresia
sensorimotor neuropathy
congenital goiter
bracket shaped end part of 2nd toe bone
abnormality of facial artery
long lower eyelashes
hypopigmented ocular fundus
bracket shaped end part of the innermost bone of the little finger
flat bridge of nose
lobster claw hand
increased bone density in innermost little finger bone
abnormality of coagulation
abnormal activity of mitochondrial respiratory chain
recurrent spontaneous abortion
screwdriver-shaped incisors
sudden decrease in vision
obsolete corticospinal tract disease in lower limbs
delayed peripheral myelination
broad middle phalanx of the 5th finger
narrow hand
osteoma
absent/small shankbone
abnormality of the humeroulnar joint
cone-shaped epiphysis of the proximal phalanx of the hallux
congenital adrenal hyperplasia
intramuscular hemorrhage
cns hypermyelination
synostosis involving phalanges of the hand
fused thumb phalanges
abnormality of the rib cage
undeveloped small intestine
abnormality of bone marrow stromal cells
cardiac failure
missing second permanent molar
limited neck mobility
notch of mandibular alveolar ridge
angle class 3 malocclusion
proximal radial shortening
vaginal neoplasm
abnormality of the abdominal wall
chaotic multifocal atrial tachycardia
first dorsal interossei muscle atrophy
fragmentation of end part of the innermost bone of the little finger
abnormal platelet dense granule atp/adp ratio
personality disorder
vertebral compression fractures
exaggerated lumbar lordosis
urinary tract abnormality
fragmentation of end part thumb outermost long bone
small calvarium
small thymus
increased pulmonary vascular resistance
congenital macroorchidism
synostosis involving bones of the feet
nuclear punctate cataract
polycalycosis
unusal lung shape
osteoporotic tarsals
polyuria
brainstem hypoplasia/dysplasia
prolonged miniature endplate currents
absent epiphysis of the proximal phalanx of the 3rd toe
disorder of pituitary gland
radial deviation of the hand or of fingers of the hand
angioectasia of the oral mucosa
neuroaxonal degeneration in the brain
fingerprint profiles ultrastructurally
acute tubular necrosis
intracranial hypotension
eunuchoid habitus
myelofibrosis
irregular capital femoral epiphyses
anterior segment mesencyhmal dysgenesis
proximal symphalangism
unaided visual acuity 0.6 logmar
transient ischemic attack
interpedicular narrowing
curved hallux phalanx
abnormal number of hair whorls
proximal radial head dislocation
dandy-walker malformation
protein s deficiency
thick lower lip
low maternal serum estriol
abnormality of divalent inorganic cation homeostasis
progressive language deterioration
rib anomalies
renal functional abnormality
abnormality of ductus venosus blood flow
cheekbone excess
decrease in t cell number
salt and pepper retinopathy
tall chin
redundant skin folds
pancreatic cancer
abnormal eating behavior
furrows in thickened skin on top of scalp
transient hearing impairment
increased length of eyelashes
abnormality of the preputium
notched upper eyelid
clavicular sclerosis
inguinal hernia
retained tooth
decreased genital pigmentation
midline cleft of maxillary alveolar process
spider veins of the tongue
asymmetry of the posterior cranium
polydipsia
defective platelet aggregation
vertical deficiency of face
abnormality of the lungs
abnormality of female internal genitalia
bullet-shaped outermost bone of the 3rd toe
easy fatigability
aplasia of lower eyelashes
thin fingernail
skeletal maturation retardation
abnormal collarbone
dysharmonic skeletal maturation
mental retardation, profound
decreased adiponectin level
gigantomastia
sweating
atrial situs ambiguous
x-linked recessive inheritance
hypotrichosis, generalized
bracket epiphysis of the distal phalanx of the 2nd finger
intermittent claudication
subependymal nodules
small end part of the middle bone of the little finger
chronic progressive external ophthalmoplegia
genital neoplasm
abnormality of the peritoneum
ivory epiphysis of the 1st metatarsal
reflex syncope
myotonia with warm-up phenomenon
monorchism
abnormality of the lacrimal canaliculus
hyperornithinemia
triangular shaped phalanges of the thumb
psychiatric disturbances
abnormality of the fovea
widely-spaced maxillary central incisors
fused innermost and middle index finger bones
duodenal diverticula
abnormality of the fourth metatarsal bone
median cleft lip and palate
focal hypopigmentation of the retinal pigment epithelium
susceptibility to infection
generalized weakness
increased serum beta-hexosaminidase
restrictive external ophthalmoplegia
broad metatarsals
enlarged interhemispheric fissure
absent/underdeveloped vagina
abnormality of the innermost end part of calf bone
severe faltering weight
abnormality of the cheeks
electrolyte disorders
abnormal lymphocyte apoptosis
aplasia of the 2nd finger
lissencephaly type ii
wide nostril
decreased size of internal carotid artery
hyperalbuminaemia
childhood-onset truncal obesity
recurrent pyogenic infections
polly beak nasal deformity
monocytopenia
bone cyst
decreased interpupillary distance
metatarsus valgus
abnormality of the renal artery
short intermamillary distance
failure of development of molar
mesangial sclerosis
sparse or absent eyebrows
spastic hemiparesis
unilateral cleft palate
difficulty adjusting to changes in luminance
axial dystonia
gliosis
subdural haematoma
broad first metatarsal
bullet vertebral body
thick septum of nose
knee hyperextension
increased bone density of end part of the innermost middle finger bone
dysplastic toenails
cleft lip, cleft palate
mild fever
abnormality of circulating protein level
cleft nose
hearing loss, sensorineural, bilateral, progressive
absent kidney on one side
closed comedo
triangular end part of the middle bone of the pinky toe
abnormal pelvis bone morphology
abnormality of the vitreous humor
duplication of internal organs
pointed incisor
best corrected visual acuity 0.6 logmar
flattened proximal radial epiphyses
pectoralis major hypoplasia
underdevelopment of teeth
wrinkled palms and soles
abnormality of the joints
age of death
absent-hypoplastic ulnae
congenital nephrotic syndrome
multiple trichilemmomata
white eyebrow
loss of subcutaneous truncal adipose tissue
abnormal large intestinal mucosa morphology
decreased visual acuity, nonprogressive
decreased width of upper jaw bones
scissors bite
frequent
increased bleeding time
non-cancerous gi tumors
conjoined teeth
ectopic kidney with fusion
cervical spine abnormalities
ruptured tendon
dandy-walker cyst
coarctation of abdominal aorta
symphalangism affecting the phalanges of the 5th toe
right aortic arch with retroesophageal diverticulum of kommerell
triggered by breast feeding
redundant nuchal skin
stippling of the epiphysis of the proximal phalanx of the 5th toe
abnormality of the end part of the long bone of pinkie finger
premature closure of cranial sutures
distal amyotrophy
increased capillary permeability
bracket shaped end part of the outermost bone of the middle finger
congenital hypertrophy of retinal pigment epithelium
question mark ears
abnormality of the epiphyses of the 5th finger
abnormality of taste sensation
abnormally small eyeball
total colorblindness
tibiofibular diastasis
right aortic arch with anomalous left subclavian artery
nonprogressive disorder
primitive neuroectodermal tumor
slender long bone
panypogammaglobulinemia
atrophy/degeneration involving the caudate nucleus
infratentorial atrophy
icterus
peripheral neuropathy
oral fibrous bands
prominent frontal ridge
cone-shaped end part of the pinkie toe bone
hypertrophic cardiomyopathy
increased bone density in the innermost bone of the 4th toe
pulp denticles
decreased size of primary teeth
underfolded superior helices
decreased bowel sounds
hypoventilation
recurrent deep vein blood clot
triangular end part of the middle bone of the pinkie finger
amelia involving the lower limbs
entrapment neuropathy of the ulnar nerve at elbow
camptodactyly of the ring finger
abnormality of the nasal skeleton
nocturnal slow breathing
wide costochondral junctions
impaired myocardial contractility
kidney stones
abnormality of visual evoked potentials
abnormality of the hypophysial fossa
absence of mandibular incisor
twelfth rib hypoplasia
tiredness
ivory epiphysis of the distal phalanx of the hallux
hypoplastic/aplastic pubic bones
elbow stiffness
carpal synostosis
atrioventricular canal defect with right ventricle aorta and pulmonary atresia
delayed pubertal development
agenesis of the lower vagina
fused innermost bone of 3rd toe
degeneration of spinal cord anterior horn cells
arcus juvenilis
macrosomia
gaze-evoked nystagmus
delayed closure of the fontanelles
cleft uvula
glucosephosphate isomerase deficiency
patchy sclerosis of the middle phalanx of the 2nd finger
stretch marks
agenesis of lateral incisor
sunsetting eye
small platelet size
anomaly of septum of nose
craniostenosis
increased size of cranium
severe sensorineural hearing impairment
decreased vibration sense at ankles
patent foramen ovale
abnormality of the epididymis
proximal muscle weakness due to defect at the neuromuscular junction
fibroma
flared eyebrow
abnormality of the curvature of the cornea
abnormal hand muscles
deformed forearm bones
central cleft lip and palate
papillary carcinoma of thyroid
congenital malformed nails
anomalous origin of right pulmonary artery from ascending aorta
low blood sodium levels
malformation of nasal cartilage
deformity of the periorbital region
alpha fetoprotein abnormal
anhidrotic ectodermal dysplasia
absent/small thymus
hypertrophy of the urinary bladder
smooth septal thickening
agenesis of the gallbladder
corectopia
abnormal light-adapted electroretinogram
ptyalism
synostosis involving bones of the hand
abnormality of the bones of the 3rd toe
reduced leukocyte alkaline phosphatase
closely spaced eyes
elbow flexion contracture
small vertebral bodies
abnormality of tooth hard tissue
sick sinus syndrome
distal renal tubular acidosis
subluxation of metacarpal phalangeal joints
unilateral vertebral artery hypoplasia
absent ears
talipes foot deformities
linear nevus sebaceous
eeg with continuous slow activity
addictive behavior
intracranial neurenteric cyst
cerebral palsy
atypical petit mal seizures
blue irides
calcification of the basal ganglia
wide radioulnar joints
duplication of the distal phalanx of the fifth toe
absent outermost bone of the 4th toe
metaphyseal dysostosis
anorectal anomaly
low urine phosphate levels
abnormality of interferon secretion
maxillary prognathia
displacement of the pinky toe
premature skin wrinkling
brainstem atrophy
high urine sarcosine levels
limited gross motor development
abnormal hair pattern since birth
calcified placenta
underdeveloped fingernail
decreased or absent ankle reflexes
recurrent myoglobinuria
salt-wasting
metastatic angiosarcoma
distally tapering fingers
hypoplasia of cheekbone
abnormal urine output
cone shaped upper lateral incisors
absent central incisor
mitral stenosis due to calcifications
cone-shaped end part of the middle bone of the ring finger
increased bone density of end part of the innermost bone of the pinky toe
downward slanted palpebral fissures
failure of development of permanent mandibular central incisor
multiple bony cystic lesions
pseudoepiphysis of the proximal phalanx of the 4th finger
abnormal static automated perimetry test
corneal hypaesthesia
neurophysiologic abnormalities
cone shaped upper front tooth
obsolete peripheral retinopathy
chronic myelocytic leukemia
abnormality of nail colour
single midline upper front tooth
decreased anterioposterior diameter of lumbar vertebral bodies
agenesis of diaphragm
anal stenosis
anterior cervical hypertrichosis
cataracts, congenital, cerulean
high blood hdl level
diaphragmatic paralysis
snoring
accessory oral frenum
skin hypopigmentation
combined immunodeficiency
short outermost finger bone
placental enlargement
hypoplastic pubic bone
premature sternal synostosis
absent/underdeveloped bladder
absent end part of the innermost hand bones
microvesicular steatosis
acute emergance over minutes
brachymesophalangism v
freezing of the temporomandibular joint
aplasia of the vestibule
frequent temper tantrums
metabolic acidosis
ophthalmoplegia externa
vertical hyperplasia of face
widely spaced upper incisors
pointed humeral metaphysis
pulmonary venous hypertension
clinical anophthalmia, unilateral/bilateral
episodic upper airway obstruction
colon ulcer
speckled calcifications in end part of the outermost bone of pinky finger
disproportionately large nose
hepatosplenomegaly
partial duplication of the innermost little finger bone
retinal thinning
macular flecks
abnormality of the bone of the forehead
downslanting palpebral fissure
abnormality of skin pigmentation
impaired convergence
long 2nd long bone of hand
elbow dislocation
superior mesenteric artery aneurysm
cone dysfunction
eeg: periodic abnormalities
posterior scalloping of vertebral bodies
synechia of the gums
abnormal stereopsis
abnormality of the end part of the innermost bone of the middle finger
abnormality of the left ventricle
unusual facial appearance
carotid artery stenosis
abnormality of the distal phalanx of the 5th finger
aggressive behavior
ectropion of lower eyelids
gist
abnormality of the frontal bone
elevated gonadotropins
spina bifida occulta
slanting of the palpebral fissure
mucocutaneous candidiasis
widened costochondral junction
metopic craniosynostosis
dermatomegaly
hypokalemia
increased lateral length of eyebrow
bilateral superior vena cava with bridging vein
abnormality of the forearm
pseudoepiphysis of the distal phalanx of the thumb
decreased orbital separation
hypoplastic humerus
episodic peripheral neuropathy
aplasia/hypoplasia involving bones of the thorax
atony of facial musculature
subretinal pigment epithelium haemorrhage
synostosis involving the 1st metatarsal
short limb dwarfism, disproportionate
shortening of all innermost bones of the fingers
exudative retinopathy
fusion involving the bones of the feet
absent/underdeveloped innermost bone of middle finger
mental retardation, nonspecific
partial hyposmia
absent/small innermost toe bones
allergy
syndactyly, cutaneous
cerebellar vermis atrophy
atresia of the external auditory canal
oral erythroplakia
low calcium seizures
accessory nares
detachment of nail
partial/complete duplication of the middle phalanx of the 5th finger
respiratory acidosis
webbed 3rd-5th toes
asplenia
hypotrophic alveolar process of jaw
marble bone disease
fragmentation of end part of thumb innermost long bone
polymorphic focal epileptiform discharges
short finger bones
large head present at birth
uterus absent
small fifth toenail
uneven increase in bone density in the innermost bone of the pinky toe
atlantoaxial dislocation
involuntary facial quivering
short limb dwarfism
bracket epiphyses of the fingers
exaggerated rugosity of the labia majora
remnants of the hyaloid vascular system
glioma
hydroxyprolinemia
spider veins of mucous membrane of nose
neuroendocrine tumor of the skin
cortical microcysts
speech difficulties
supravalvular aortic stenosis
duplicated terminal phalanx of thumb
absence of subcutaneous fat over entire body except buttocks, hips, and thighs
atrichia of upper eyelashes
sclerosis of the distal phalanx of the 4th toe
short proximal phalanges of halluces
enlarged cochlear aqueduct
cortical sclerosis
cleft hand
herniated disk
direct hyperbilirubinemia
fragmentation of the end part of the innermost bone of the pinky toe
increased serum alanine
activated protein c resistance
increased width of tooth
widening of the sacrosciatic notch
absence of the third cerebral ventricle
hypoplastic digits
abnormality of the autonomic nervous system
absence of pubertal development
radioulnar synostosis
abnormal form of phalanges of the hand
high albumin
lymphadenitis
thoracic platyspondyly
increased igg level
low-set ears
acute encephalopathy
hypoplastic supraorbital ridges
lingual lobules
abnormality of the medulla oblongata
bleeding from mouth
telangiectases, random body distribution
absent epiphysis of the distal phalanx of the thumb
fat deposits in muscle fibers
bullet-shaped phalanges of the 2nd finger
abnormality of superoxide metabolism
missing adult molar
aplasia of the sweat glands
hypoplastic nasopharyngeal adenoids
ostium primum atrial septal defect
abnormal brain n-acetyl aspartate level by mrs
abnormality of macular vasculature
hypoplastic vertebral bodies
increased muscle glycogen content
bronchodysplasia
schmorl's nodes
epiphyseal stippling of the metacarpals
sacroiliac arthritis
asymmetry of skull
focal t2 hypointense basal ganglia lesion
absent/hypoplastic coccyx
absent/small tragus
absent pancreas
hypertrophic clitoris
thenar abnormality
spinal instability
anterior atlanto-occipital dislocation
collapsed nostrils
abnormal surface-connected open canalicular system
cone-shaped end part of the pinky finger bones
dyserythropoietic anemia
elevated serum acid phosphatase
multiple deep venous thrombosis
aplasia/hypoplasia of the nails
overgrowth of the inside of the skull
persistent pupillary membrane
abnormality of the epiphysis of the proximal phalanx of the 4th toe
early eruption of permanent teeth
nonarteritic anterior ischemic optic neuropathy
thrombasthenia
deformed long bone in upper arm
congenital nonbullous ichthyosiform erythroderma
dull facial expression
band keratopathy
renal cystic dysplasia
punctate corneal dystrophy
slender ribs
loss of consciousness
complete duplication of the proximal bone of the index finger
abnormality of the male genitalia
thin nails
enlarged innermost hinge joint
atlantoaxial instability
chondrocalcinosis
rectal prolapsed
feculent vomiting
ureteral agenesis
neoplasm of the skin
abnormal permanent tooth count
oesophagus ulceration
stippling of the epiphysis of the distal phalanx of the 3rd finger
broad middle 3rd toe bone
lower motor neuron signs
bifid xiphoid process
fewer teeth than normal
late-onset speech development
proximal radio-ulnar synostosis
alacrima
abnormality of middle 2nd finger phalanx
epicanthus
abnormality of the skull bones
papule
amyloid disease
stubby toes
peripheral artery occlusive disease
fragmentation of the end part of the big toe bone
absent/small little toe bones
bulging cornea
duodenal polyposis
buried teeth encased in mucopolysaccharide
abnormality of the middle bone of the 2nd toe
increased aldosterone
weakness of muscles of respiration
speckled calcifications in end part of the outermost bone of pinkie finger
triangular shaped middle phalanges of the hand
abnormality of limbs
increased fat around the neck
triangular epiphyses of the 5th toe
hyperpigmented genitalia
osteoarthritis of the distal interphalangeal joint
bracket epiphysis of the proximal phalanx of the 5th finger
increased anterior vertebral height
triangular end part of innermost long bone of the middle finger
osteolytic defects of the distal phalanges of the toes
eyelid ptosis
multifocal cerebral white matter abnormalities
nocturnal enuresis
aplasia/hypoplasia of the distal phalanx of the 2nd toe
abnormality of the columella
axial muscle stiffness
male infertility
scissor walk
absent/small forearm bones
tessier facial cleft number 8
tessier facial cleft number 7
anonychia of fingernails
enlarged end part of the outermost bone of the index finger
bilateral sensorineural deafness
tessier facial cleft number 0
depletion of mitochondrial dna in liver
small end part of thumb long bone
fragmentation of the epiphysis of the proximal phalanx of the thumb
best corrected visual acuity 0.8 logmar
abnormal luteinizing hormone level
tibial deviation of the 3rd toe
overgrowth of skullcap
euthyroid goiter
uneven increase in bone density in the innermost bone of little finger
lower limb weakness
intermittent icterus
robin mandible
generalized neonatal hypotonia
diaphyseal cortical sclerosis
median nail dystrophy
abdominal ectopia cordis
high urine histidine levels
increased bone density in the innermost bone of the thumb
tonic pupil
generalized hyperkeratosis
absent/underdeveloped outermost bone of 4th toe
small finger
severe intrauterine growth retardation
abnormal morphology of forearm bone
inflammation of the peritoneum
prominent inferior crus of antihelix
small primary palate bone
facial muscle hypertrophy
hitchhiker thumb
immunoglobulin igg2 deficiency
right ventricular outlet obstruction
peripheral vascular insufficiency
preauricular pits
j-shaped hypophysial fossa
fetal death
mozart ear
clubbed toes
abnormal neuronal migration
chest pain
abdominal aseptic abscess
peripheral visual field constriction with 30-40 degrees central field preserved
colonic diverticulosis
thalamic hypometabolism in fdg pet
outward turned elbows
pyramidal signs
sinus disease
edema of the thalamus
absent/small extremities
cervical ribs
progressive leg bowing
thick upper lip vermilion
short 4th metacarpals
progressive microcephaly
multinucleated giant chondrocytes in epiphyseal cartilage
flushing
abnormality of erythrocytes
down-slanted palpebral fissures
muscle spasm of face
left aortic arch with isolated subclavian artery
cervical vertebrae agenesis
abnormality of multiple cell lineages in the bone marrow
abnormal navel
low maternal serum papp-a
increased urinary urate
proportionate small stature
hypermobility of distal interphalangeal joints
peeling skin
prominent upper lip
cardiogenic shock
enlargement of mandible
short long bone of upper arm
abnormality of the first metatarsal bone
abnormality of incisor morphology
space between great toe and second toe
exercise-induced muscle fatigue
enlarged end part of the middle bone of the pinkie toe
hemangiomata
small bowel diverticula
partial-complete absence of 5th phalanges
retinal pigment epithelial loss on macular oct
alveolar process hypoplasia
malformation of the nasal dorsum
metaphyseal cupping of proximal phalanges
bullet-shaped innermost pinky finger bone
flat face
vii th cranial nerve palsy
abnormal number of granulocyte precursors
short 5th long bone of foot
tapered outermost finger bone
motor developmental milestones not achieved
multicystic kidney dysplasia
congenital pyloric atresia
pituitary thyrotropinoma
thin red part of the lower lip
transient hyperphenylalaninemia
aplasia/hypoplasia of the macula
triangular epiphyses of the 2nd toe
myotonia of the jaw
underdeveloped aortic arch
aplasia of the distal phalanx of the hallux
obstruction of nose
progressive alveolar ridge hypertropy
thigh muscle atrophy
patchy sclerosis of toe phalanx
complex partial seizures
central adrenal insufficiency
elevated serum gonadotropins
displaced little finger
broad middle phalanx of the 4th toe
absent end part of the middle bone of the 2nd toe
modic type 2 vertebral endplate changes
dysphagia
irregular end part of the outermost bone of little finger
abnormality of sodium homeostasis
high, narrow palate
enlarged kidney
abnormality of optic chiasm morphology
pointed upper front tooth
extra calcaneal ossification center
multilocular splenic abscess
fused middle bone of 2nd toe
congenital onset
fused vertebrae
choanal stenosis
sclerosis of the middle phalanges of the toes
hyperferritinaemia
complete duplication of the phalanges of the 2nd toe
short neck
preauricular skin furrows
fragmentation of the end part of the outermost bone of the little toe
nonprogressive mental retardation
partial hip dislocation
posterior wedging
failure of eruption of multiple adult teeth
posterior subluxation of radial head
abnormality of the shankbone
abnormal circulating creatinine level
laryngeal stidor
hydrocele
toe pain
large tongue
polygonal calices
underdevelopment of the tongue
cyst of the eyelid
migraine
little mandible
oroticaciduria
pear-shaped vertebral bodies
broad great toes
little subcutaneous fat
desquamation
hypoplasia of carpal bones
abnormal platelet function
mouches volantes
sclerotic forearm bones
peg shaped front baby tooth
exostoses of the forearm bones
mandibular hyperostosis
large testicles
deformity of nasal base
anisometropia
short fifth fingers
accessory scrotum
absent sternal mineralization
increased blood leukocyte number
limited forearm extension
limited cervical range of motion
upswept frontal hairline
abnormality of the tibia
mixed total anomalous pulmonary venous connection
irritable
small end part of the middle hand bones
absent end part of the outermost bone of the pinkie toe
abnormality of thumb epiphysis
perifollicular fibrosis
somatosensory agnosia
focal friction-related palmoplantar hyperkeratosis
poor hand-eye coordination
myodeopsia
abnormality of ossification of cranium
cortical blindness
irregular end part of the innermost bone of the ring finger
maxillary torus
antimongoloid eye slant
acro-osteolysis
gingival calcifications
facial palsy caused by enlargement of cranial bones
distally placed thumb
hyperkyphosis
abnormality of the vertebral endplates
hallucinations
rocker bottom foot
missing premolar
descending aortic dissection
bullet-shaped middle bone of the 3rd toe
choanal atresia
laterally elongated eyebrow
bacterial infection of skin
pain of muscles of mastication
profound mental retardation
pierre-robin sequence
digenic inheritance
absent/underdeveloped gallbladder
bullet-shaped outermost bone of the pinkie toe
secondary hypothyroidism
hypoproteinemia
anomalous liver lobulation
personality change
congenital onychodystrophy
hypertrophic inferior crus of antihelix
duplication of outermost bone of toe
reduced muscle fiber gamma sarcoglycan
bladder stones
lambdoid suture synostosis
recurrent bleeding into lungs
triangular end part of thumb outermost bone
pulmonary emphysema
unilateral facial muscle weakness
hypothalamic gnrh deficiency
abnormality of the fourth ventricle
eeg with photoparoxysmal response
midfacial prominence
anomaly of the malar arch
tongue fasciculations/fibrillations
ectopic calcification
fibroblast metachromasia
blood vessel tumor
external ophthalmoplegia
generalized limb muscle atrophy
leber optic atrophy features
hyperostosis frontalis interna
anomaly of the metacarpal bones
coat hanger sign of ribs
acute middle ear infection
externally rotated/abducted legs
abnormality of the retinal vasculature
agenesis of tooth root
recurrent respiratory infections
anomaly of the upper lip
peripheral axonal degeneration
hyposthenuria
absent/small middle bone of the 4th toe
sclerosis of middle toe phalanx
horizontal orientation of the ear crus
absent of the outermost bone of the middle finger
square facies
abnormal blood calcium levels
naevus anaemicus
uneven increase in bone density in the middle bone of the 3rd toe
pancreatic insufficiency
ataxia, sensory
abnormality of jugular vein
fragmented epiphyses
opacification of the corneal stroma
pancreatic abscess
inflammation of corners of the mouth
carp-shaped mouth
prominent upper lip vermilion
absent lacrimal fluids
acetabular hypoplasia
elevated brain creatine level by magnetic resonance spectroscopy
contractures of the knees
ectopia lentis
hiatus hernia
basilar invagination
complete duplication of hand bones
focal glomerulosclerosis
l-2-hydroxyglutaric acidemia
hypoplastic 5th metacarpal
premature loss of primary teeth
brachytelomesophalangy
absent ossification of skull vault
abnormality of the palatine bone
increased corneal diameter
tetralogy of fallot with atrioventricular canal defect
epicanthic folds
small end part of outermost thighbone
advanced carpal bone age
large corpus callosum
eeg with focal sharp waves
malformation of the supraorbital margins
ductus arteriosus
hepatocellular loss
webbed 3rd-4th finger
bullet-shaped phalanges of the 3rd toe
thin toenail
labial lentigo
sclerosis of the distal phalanx of the thumb
spontaneous, recurrent epistaxis
high urine trimethylamine levels
decreased activity of mitochondrial complex i
abnormal brain creatine level by mrs
nonprogressive intellectual disability
absent/underdeveloped eye
obsessive-compulsive trait
spinal muscular atrophy
hypotonia early
intracranial meningioma
abnormal b cells
atypical or prolonged liver inflammation
prominent costochondral junction
speckled calcifications in the end part of the little toe bone
exaggerated cupid's bow
abnormality of the upper respiratory tract
narrow vertebral interpedicular distance
abnormalities of the toes
hypohidrotic ectodermal dysplasia
widened subarachnoid space
cerebral berry aneurysm
duplication of the proximal phalanx of the 3rd finger
absent scaphoid bone
bilateral triphalangeal thumbs
abnormality of pattern onset/offset visual evoked potentials
partial right sided absence of pericardium
splayed epiphyses
aplasia/hypoplasia of the proximal phalanx of the 3rd toe
bird-like facies
dumbbell-shaped thighbone
seizures, generalized tonic-clonic
iliac abnormalities
ceruminoma
increased size of tooth
behavioral problems
dermatochalasis
obsolete abnormality of the ocular region
osteolytic defects of the distal phalanx of the 4th finger
eeg with parietal sharp waves
dermatochalasia
2-3 toe cutaneous syndactyly
laryngotracheomalacia
abnormal heart morphology
increased blood alanine
hypoplastic sacral vertebrae
increased bone density of end part of the outermost hand bones
shortening of all phalanges of the toes
face with broad temples and narrow chin
malformation of the periorbital region
abnormality of retina blood vessels
flattened humeral epiphyses
elevated mean arterial pressure
claw-hand deformities
hypoplasia of the vagina
adactyly
hyperplasia of columella
double uterus
functional intestinal obstruction
bell-shaped thorax
abnormality of the distal phalanx of the 2nd toe
williams factor deficiency
accumulation of muscle fiber valosin-containing protein
spatulate ribs
uneven maxilla
absence of renal corticomedullary differentiation
6 long bones of hand
rickets of the lower limbs
hypertonia
bifid tragus
cone-shaped epiphysis of the middle phalanx of the 5th toe
abnormal retinal pigmentation
limited elbow mobility
radially deviated thumb
abnormal numbers of b cells
abnormality of the outermost bone of ring finger
partial duplication of the middle pinkie finger bone
myxoid subcutaneous tumors
pigment deposition in the trabecular meshwork
gonadoblastoma, male
partial abdominal muscle agenesis
abnormal natural killer cell physiology
congenital cystic adenomatoid malformation of the lung
hyporeflexia of the lower limbs
aplasia of the optic tract
white discoloration of nails
hyperkalemia
absent pectoralis major muscle
hypertrophy of skin of soles
hypopigmented skin patches
diaphragmatic paraparesis
leukemia
prominent palatine folds
small skull
complex palmar dermatoglyphic pattern
monocytosis
amino acid levels abnormal
type 1 muscle fiber atrophy
acetabular abnormality
normal interictal eeg
fluid accumulation in lower limbs
abnormality of the left hemidiaphragm
cardiac abnormality
large helix
enlarged thalamic volume
short innermost pinkie finger bone
abnormal emotion/affect behavior
ala nasi, cleft
abnormal conjugate eye movement
hip girdle amyotrophy
shoulder impingement
age-related cataract
schwann cell tumour
narrowing of aortic valve due to calcifications
vertical hyperplasia of chin
abnormality of the placenta
flattened distal femoral epiphyses
aggravated by exertion
absent/underdeveloped bones of the upper limbs
sclerotic costochondral joints
ureteral triplication
reticulate pigmentation of oral mucosa
anomalous carpal bones
generalized periodontitis
thin diaphyses of long bones
increased neutrophil nuclear projections
muscle fiber tubular aggregates
weakness of extraocular eye movement
triangular shaped phalanges of the 3rd finger
vaginal fistula
telangiectasia of the roof of the mouth
partial/complete duplication of the middle phalanx of the 2nd toe
severe hearing impairment
increased serum estrone
abnormal susceptibility to fractures
irregular epiphyses of the 4th toe
oat cell lung cancer
autoimmunity
proximal muscle weakness
enlarged tonsils
short outermost bone of the index finger
deficiency of nasal bone
partial/complete duplication of the distal phalanx of the hallux
partial duplication of the middle phalanx of the fifth toe
astrocytosis
vascular neoplasm
neurological abnormality
j-shaped sella
abnormality of the common bile duct
hyperekplexia
abnormality of horizontal incisor relationship
recurrent patellar dislocation
discordant atrioventricular connection
abnormal pulmonary lymphatics
cerebral colloid bodies
focal seizures
irregular end part of the middle bone of the 3rd toe
granulocytopenia
underdeveloped prostate
calcium oxalate kidney stones
decreased muscle glycogen content
agenesis of mandibular central incisor
bouchard's node
abnormality of the calvarium sutures
deviated nasal tip
decreased mepp
abnormality of subcutaneous fat tissue
diaphragmatic weakness
transient decrease in blood erythrocyte number
absent/hypoplastic tibia
extra nostril
duplication of 4th toe bone
obsolete radial deviation of the thumb
long big toe
clinodactyly of the 5th toe
absent/small 3rd toe
avascular necrosis of the capital femoral epiphysis
curved innermost bone of 3rd toe
limited knee movement
abnormal thumb placement
macrocrania
flared iliac wings
absent/underdeveloped brainstem
velamentous cord insertion
deviated index finger
underdeveloped tooth roots
skull stopped growing
hemiplegia
flared upper limb metaphysis
complete duplication of the middle phalanx of the 4th finger
absent metacarpal ossification center
abnormality of the shoulder girdle musculature
clitoromegaly
blood tumor
enlargment of tonsils
big maxilla
cone-shaped end part of the outermost little finger bone
abnormality of the spine
round end part of long bone in upper arm
atrial fibrillation, paroxysmal
skin vesicle
sclerosis of hallux phalanx
deformity of the ethmoid bone
absent end part of the outermost bone of the 4th toe
sparse to absent axillary hair
posterior retinal neovascularization
decreased distance between eye sockets
recurrent corneal ulcerations
increased bone density of end part of the outermost bone of the index finger
disproportionate short limb dwarfism
abnormal serum insulin-like growth factor 1 level
truncal titubation
intracranial dermoid cyst
hypoplasia of depressor angula oris muscle
uneven increase in bone density in middle toe bone
symphalangism of the 3rd finger
increased volume of upper lip
scaphoid abdomen
increased number of peripheral cd3+ t cells
increased size of upper limb
human tail
thin vermilion border of upper lip
small end part of the middle bone of the little toe
dislocated patellae
wide distal metaphysis of femur
abnormality of the parietal bone
ventricular escape rhythms
increased bone density in the innermost bone of the index finger
delayed start of first period
recurrent skin infections
small chest on one side
increased creatinine
y-shaped metatarsals
enlarged fossa interpeduncularis
astigmatism
abnormal electrooculogram
arrhythmia
generalised tonic-clonic seizures without focal onset
visual acuity light perception with projection
irregular maturation of the end part of the long bone in upper arm
digital anomalies
respiratory complex i deficiency
skin rash
vaginal birth after caesarian
cellular metachromasia
eeg: periodic lateralized epileptiform discharges
underdeveloped iris stroma
intermittent migraine headaches
sporadic excessive sweating
osteolytic defects of the phalanges of the 5th finger
hair-pulling
midline notch of upper gum ridge
intensity
angioedema
eye freckle
dental diastema
short proximal index finger phalanx
wide ulnar metaphysis
moderate short stature
sclerosis of the phalanges of the 3rd toe
stippling of the epiphysis of the 1st metatarsal
triangular end part of the little finger
coloboma of optic nerve
4-5 finger syndactyly
wide outermost bone of the index finger
increased bone density in the outermost bone of the toes
superior subluxated lens
distal femoral metaphyseal irregularity
overgrowth of mandibular bone
hypomimic face
pectus excavatum/carinatum
flared outermost wide portion of of calf bone
short middle phalanges
abnormality of the cerebral cortex
episodic slow breathing
absent epiphyses of middle phalanx of index finger
hypoplastic thenar eminences
stiff ankle
acanthocytes
aplastic carpal bone
underdeveloped pulmonary artery
abnormality of the distal phalanges of the toes
craniofacial hyperostosis
abnormality of the middle ear ossicles
absent/underdeveloped pinky toe
soft tissue sarcoma
postnatal cystic hygroma
intrahepatic cholestasis with episodic jaundice
narrow jaw
weakness of forehead muscle
partial/complete duplication of the middle phalanx of the 5th toe
abnormality of the epiphysis of the distal phalanx of the thumb
abnormal maturation of the pelvis bone
hyperkeratosis lenticularis perstans
acth deficient adrenal insufficiency
tracheal disease
vitamin a deficiency
tracheomalacia
decreased csf biopterin level
hypsarrhythmia
underdevelopment of eyelid
hypoplastic middle phalanx
decreased width of nasal dorsum
hyporeflexia at ankle joints
abnormality of the end part of middle little finger bone
abnormality of the long bone of foot
duplication of the proximal phalanx of the third toe
squamous cell carcinoma of the pancreas
wide uvula
tshr defect
pits at the corners of the lips
curved middle phalanx of the 4th finger
st. anthony's fire
wide base of nose
esophageal varix
supraventricular tachycardia with a manifest accessory pathway on the septum
pneumonia, recurrent
malformation of sella turcica
respiratory failure requiring assisted ventilation
absent ductus deferens
reduced number of corneal endothelial cells
abnormality of the thoracic cavity
increased bone density of end part of the outermost bone of the thumb
organ abnormality
abnormal form of ears
fragmentation of the end part of the innermost bone of the little toe
abnormal muscle fiber delta sarcoglycan
movement abnormality of the tongue
absent/underdeveloped outermost bones of toe
eeg with photoparoxysmal response grade iv
underdevelopment of alveolar process of jaw
underdevelopment of condylar process of mandible
persistent tunica vasculosa lentis
abnormal ocular movements
long, slender fingers
accessory mamilla
high insertion of columella
cafe au lait spots
high stepping
renal insufficiency
bracket shaped end part of 3rd toe bone
electronegative electroretinogram
mottled pigmentation of photoexposed areas
irregular heartbeat
sclerosis of proximal toe phalanx
paramedian cleft of the upper lip
abnormality of the aorta
stippling of the epiphysis of the proximal phalanx of the thumb
undermodelled forearm bones
abnormality of oral frenum
small end part of the little toe bone
maternal fever during labor
bilateral microphthalmos
eeg with generalized low amplitude activity
renal cortical microcysts
malformation of cartilage of nasal septum
cone-shaped epiphysis of the proximal phalanx of the 2nd finger
increased sensitivity to ionising radiation
weakness of distal muscles
symphalangism affecting the proximal phalanx of the 3rd toe
cutaneous apudoma
muscle weakness, progressive
mineralocorticoid excess
pelvic girdle amyotrophy
dysphonia
multiple small medullary renal cysts
short scapulae
inappropriate crying
double outlet right ventricle with doubly committed ventricular septal defect without pulmonary stenosis
abnormal hair whorl
irregular end part of the outermost bone of the ring finger
pituitary gonadotropic cell adenoma
absent innermost toe bones
both sided cleft lip
basal ganglia calcification
vitelliform macular lesions
decreased length of eyelashes
prematurely closed sternal sutures
retinal arteriolar occlusion
increased breadth of nose
sclerotic ivory phalangeal epiphyses
flat philtrum
tendonitis
obstructed carotid artery
splanchnic vein thrombosis
olfactory esthesioneuroblastoma
foam cells
ring iris heterochromia
reduced alpha/beta synthesis ratio
duane anomaly
proteinuria
abnormality of superior crus of antihelix
cleft nasal alae
absent end part of big toe bone
partial duplication of the innermost bone of the ring finger
scalp aplasia cutis congenita
failure of development of permanent upper lateral incisor
compact spinal bone
ganglioneuroblastoma
pale eyelashes
spontaneous abortion, recurrent
cleft velum
hemianopia
acute rhabdomyolysis
bulging eye
hypotrophic inferior crus of antihelix
acute lymphocytic leukemia
haemorrhagic disorders
craniofacial osteosclerosis
patchy sclerosis of 5th finger phalanx
posterior uveitis
large anterior fontanelle
multiple accessory spleens
gustatory sweating
polycystic kidney dysplasia
inability to walk by childhood/adolescence
mucosal telangiectasiae
hypoargininemia
palmoplantar cutis gyrata
hemihypsarrhythmia
subcapsular cataract
enlarged labia majora
progressive night blindness
vertical excess of chin
abnormality of upper lip vermillion
abnormal connection of the cardiac segments
delay in motor development
sclerosis of distal toe phalanx
hyaloid vascular remnant and retrolental mass
decreased depth of philtrum
absent or rudimentary fallopian tubes
small skull present at birth
abnormality of the phalanges of the 2nd finger
absent end part of innermost long bone of the middle finger
chronic hepatitis
hyperplasia of tooth
weakness of face
abnormality of the vertebral epiphyses
contracture of the interphalangeal joint of the hallux
enlarged tragus
fusion of capitate and hamate
alveolar rhabdomyosarcoma
abnormality of cervical musculature
missing lower incisor
hypercholesterolemia
triangular epiphysis of the middle phalanx of the 5th toe
tonic-clonic convulsions
wedge-shaped 11th thoracic vertebra
increased oct-measured macular thickness
amelogenesis imperfecta
high blood bilirubin levels in neonate
muscle hypotonia
reticular retinal dystrophy
missing upper front milk tooth
2nd-5th toe middle phalangeal hypoplasia
intralobar nephrogenic rests
synostosis involving the 1st metacarpal
narrowing of anal opening
eeg with generalized slow activity grade 4
osteoarthritis of the small joints of the hand
enlarged epiphyses of the middle phalanges of the hand
overriding toes
corpus callosum hypoplasia
hypoplasia of the phalanges of the toes
anemia
absent wrist bone
disorientation
lower eyelid folded out
deltoid muscle hypoplasia
bilateral postaxial polydactyly
neuromuscular dysphagia
overgrowth of half of face
short uvula
type 4 ventricular septal defect
low hanging septum of nose
agenesis of permanent dentition
acute severe asthma
thick helix
abnormality of the pericardium
decreased size of anterior nasal spine
complete/partial duplication of phalanges of the thumb
absent/small bones of the upper limbs
transverse vaginal membrane
liposarcoma
abnormality of metacarpal epiphyses
anterior lenticonus
abnormality of the end part of the middle bone of the ring finger
flexion contracture of 3rd toe
generalized papillary lesions
lingual angioectasias
spinal neurofibromas
absent vestribular nerve
large dolichocephalic skull
jaundice
curved outermost bone of the thumb
distal muscle weakness
neck pterygium
abnormal spaced incisors
contracture of the proximal interphalangeal joint of the 4th finger
slender nose
towhead (hair color)
abnormal number of secondary dentition
light colored hair
pointed mandibular incisors
triangular shaped outermost 2nd toe bone
elevated alkaline phosphatase of renal origin
cystic medial necrosis of the aorta
naevus flammeus of the eyelid
abnormality of the outermost bone of the pinky toe
scintillating scotoma
irregular end part of the middle bone of the pinkie toe
short bone of big toe
angel-shaped epiphysis of the proximal phalanx of the 5th finger
difficulty seeing moving objects
focal eeg discharges with secondary generalization
nystagmus, horizontal, gaze-evoked
birthweight > 90th percentile
increased nasal size
spontaneous milk flow from breast
abnormality of retinal arteries
elevated leukocyte alkaline phosphatase
methionine synthase deficiency
bullet-shaped outermost bone of the middle finger
agenesis of the cerebral white matter
abolished vibration sense
pleural empyema
fragmentation of the end part of the pinkie toe bone
absent sacrum
eye drop
increased diameter of nostril
stiffened spots within wrist bones
distal sensory loss, especially vibratory sense
bullet-shaped innermost bone of pinky toe
fragmentation of the end part of the outermost hand bones
obstructive azoospermia
agenesis of incisor
radial deviation of the 5th finger
abnormality of the alternate complement pathway
abnormal metabolic brain imaging by mrs
abnormality of the lower urinary tract
abnormality of end part of pinky finger bone
abnormality of folate metabolism
increased density of shaft of long bone
small end part of the outermost bone of the 3rd toe
rounded end part of bone
uneven increase in bone density in big toe bone
increased body weight
wide cranium
myofibrillar changes
expressive language delay
renal c3 deposition
excessive growth of calvarial bones
pterygoid-levator synkinesis
polydactyly affecting the 2nd toe
bleeding diathesis
hypoplastic tooth buds
eeg with generalized spikes
hepatic adenoma
large hand
nasal bridge broad
hypermetric saccades
iris transillumination defect
twisted upper front teeth
obsolete radially pointed proximal middle-finger phalanx
multinodular goiter
absent/small middle ring finger bone
patchy sclerosis of proximal phalanx of finger
decreased methylmalonyl coa mutase activity
fused outermost bone of the 2nd toe
febrile seizures
absent/underdeveloped middle bone of pinkie toe
lactic acidemia
prominent epicanthus
localized gum disease
galactorrhea
partial/complete duplication of the proximal phalanges of the hand
bracket shaped end part of the innermost bone of 4th toe
coronary artery calcification
hypoplastic/aplastic middle ear structures
absent styloid process of ulna
abouphalia
acroosteolysis of distal phalanges
upgaze paresis
autonomic dysregulation
congenital partial albinism on face, trunk, or limbs
hyperextensible skin of chest
punctate corneal epithelial erosions
quadriceps muscle weakness
absent penis
abnormality of the small intestine
coronary atherosclerosis
depressed supraorbital ridge
epididymal neoplasm
proximal placement of big toe
irregular end part of the middle bone of the 2nd toe
cone-shaped end part of the 3rd toe bone
patchy osteosclerosis
shortening of all outermost bone of the toes
absent fifth metatarsal
malformation of the nasal bridge
hypoplastic adrenal glands
abnormality of the glenoid fossa
underdeveloped superior crus of antihelix
cortical diaphyseal irregularity of the upper limbs
abnormality of the eleventh cranial nerve
absent/small sweat glands
fixed flexion at the elbow joint
muscle inflammation
unaided visual acuity 0.7 logmar
secondary generalized tonic clonic seizures
vein of galen aneurysmal malformation
curvature of outermost bone of little finger
increased intraocular pressure
absent/small tailbone
bloody mucoid diarrhea
anomaly of the testes
malformation of the ethmoid bone
abnormal response to short acting pulmonary vasodilator
elevated csf protein
decreased arden ratio of electrooculogram
delayed eruption of adult teeth
congenital agranulocytosis
autonomic auras
spondylolysis and spondylolisthesis of l5
medial deviation of the foot
absent/underdeveloped extremities
fused middle bone of index finger
external ophthalmoplegia, progressive
progressive forgetfulness
bell's palsy
decreased size of teeth
complete duplication of the proximal phalanx of the second toe
ivory epiphysis of the distal phalanx of the 4th finger
hashimoto thyroiditis
thickening of the scalp
ventricular arrhythmia
small epiphyses of the 5th finger
radial-head subluxation
episodic fever
short fifth finger
abnormal shape of midbrain
partial/complete duplication of the distal phalanx of the 2nd toe
enlarged end part of thumb innermost long bone
solitary scalp defect
angiomyolipoma
microfontanelle
prominent maxilla
decreased volume of facial adipose tissue
receding gums
decreased tear secretion
central nuclei
colitis
esophageal duplication
abnormality of renal calyx morphology
pulmonary situs ambiguus
obsolete degenerative joint disease
death of liver cells
chronic hepatic encephalopathy
profound static encephalopathy
limbic malformation
small, peg shaped teeth
axial muscle weakness
absent/small fingers
deuteranomaly
histiocytosis, mucinous
occipital meningoencephalocele
vacuolated lymphocytes
patchy demyelination of subcortical white matter
tracheal atresia
missing permanent lower central incisor
abnormality of the shape of the midface
cartilaginous trachea
increased circulating acth level
adrenogenital syndrome
lateral deviation of toes
childhood onset sensorineural hearing impairment
mixed sclerosis of humeral metaphyses
large nares
subependymal giant-cell astrocytoma
urogenital fistula
anterior beaking
mandible prognathism
coalescence of carpal and tarsal bones
anomaly of cartilage of nose
patchy sclerosis of the phalanges of the hand
abnormal exocrine pancreatic function
periodic respiration
finger polydactyly
sun setting eyes
delayed talus ossification
increased bone density of end part of the innermost bone of the 3rd toe
dystonia
skin atrophy
psychiatric disorders
short phalanx of hallux
increased intramuscular fat
giant pigmented mole
redundant skin folds of neck
congenital anterior abdominal wall defect
rhomboid or triangular shaped innermost bone of pinkie finger
extra long bones of hand
vitamin b8 deficiency
large tarsal bones
glomerular nephritis
gingival enlargement
contractures of knees
cutaneous stenosis of the external auditory canal
long ulna
megaureter
abnormality of ossification/mineralisation of vertebrae
primary front shark tooth
congenital bilateral facial palsy
nose bleeding
aplasia/hypoplasia of the patella
thick skull base
athelia
umbilical cord hematoma
missing bicuspid
abnormal humphrey sita 24-2 perimetry test
capitate-hamate fusion
abnormality of nasopharyngeal tonsil
high blood pressure
absent/small outermost bone of 4th toe
retinal disease
respiratory difficulties
palmoplantar cutis laxa
absent nipple
respiratory cilia have shortened or absent outer dynein arms
reduced factor v activity
abnormality of the musculature of the thigh
horizontal insufficiency of face
limitation of movement at ankles
triggered by hyperventilation
hypoplasia of the lesser trochanter
displaced hand or fingers of the hand
duplication of the innermost bone of big toe
knee dislocations
subretinal exudate
speckled calcifications in end part of middle finger bone
aneurysms
scalp folds
patchy sclerosis of the distal phalanx of the 5th finger
hypoplastic radial head
bracket shaped end part of the middle bone of the little toe
eeg with photoparoxysmal response grade ii
eyelids stay open
abnormality of the epiphysis of the proximal phalanx of the hallux
short proximal phalanx of the 4th toe
slow saccades
depression of frontal cranial suture
decreased plasma carnitine
small end part of thumb outermost bone
abnormality of the acoustic reflex
shield chest
delayed growth
missing mandibular central incisor
interdigital finger polydactyly
hypoplasia of facial musculature
increased number of skin folds
behavioural/psychiatric abnormality
generalized brain degeneration
first degree atrioventricular block
salmon patch
nasolacrimal duct obstruction
short hard palate
hyperplasia of the maxilla
multiple palmar creases
neoplasm of the ovaries
respiratory complex iii deficiency
decreased size of eyeball
intestinal polyp
prolonged yellowing of skin in newborn
increased fiber size variation
small lower eyelid
prominent protruding tailbone
deviation of finger
small nasal bridge
autosomal dominant
kidney fibrosis
aplasia of the 5th metacarpal
abnormality of the stapes
triggered by ingestion of lactose-containing milk
soft tissue sarcomas
no appetite
left aortic arch with retroesophageal diverticulum of kommerell
generalized reticulate brown pigmentation
duplication of the phalanges of the fifth toe
synostosis of second metacarpal-trapezoid
anoperineal fistula
food intolerance
urethral atresia, female
abnormality of the internal capsule
absent/small innermost big toe bone
histiocytosis
viral hepatitis
fragmentation of the epiphyses of the 4th finger
missing wrist bone
abnormal respiratory epithelium morphology
camptodactyly of the 4th toe
metabolism abnormality
large cranial suture
absent/small skin
increased breadth of face
decreased activities of mitochondrial-encoded respiratory chain complexes
high urine oxalate levels
palatoschisis
large clumps of pigment irregularly distributed along hair shaft
hormonally silent pituitary adenoma
fragmentation of the end part of the middle hand bones
hepatitis, chronic, due to cryptosporidium infection
speckled calcifications in end part of the innermost bone of the pinkie toe
absent pigmentation of the ventral chest
impaired t cell function
abnormality of the toenails
abnormality of the proximal humeral epiphysis
abnormality of cervical plexus
malformation of the nasal alar cartilage
absent lung vessels
slowly progressive visual loss
triangular end part of the outermost long bone of the middle finger
absent/underdeveloped cochlea
duplication of the bones of index finger
deficiency of internal carotid artery
pituitary corticotropic cell adenoma
absence of intermediate von willibrand factor multimers
prolonged bleeding after surgery
increased length of philtrum
pain insensitivity
irregular end part of middle finger bone
left superior vena cava draining to coronary sinus
congenital finger flexion contractures
paroxysmal dystonia
short nasal septum
myopathic changes
bulging of eye lens
short radii
abnormally shaped skeletal
tilted mandible
hair-nail ectodermal dysplasia
chordoma
carpal bone anomalies
splayed fingers
eeg with occipital slowing
palmoplantar pustules
prenatal movement abnormality
retinitis pigmentosa inversa
enlarged brainstem
small epiphysis of the middle phalanx of the 5th toe
abnormal direction of ventricular apex
extension of the columella below the ala nasi
hip girdle weakness
decreased size of milk teeth
blue yellow color blindness
anorexia
irregular end part of the innermost bone of the little toe
abnormality of vitamin k metabolism
abnormal dentin
laryngeal dystonia
villous degeneration
thick eyebrows
mirror image polydactyly
increased igm levels
beevor's sign
large intestinal atresia
coned epiphyses
situs inversus
tightly curved thumb nail
abnormality of baby teeth
enlarged epiphysis of the middle phalanx of the 5th toe
aplasia/hypoplasia of the 4th toe
underdevelopment of pharynx
atypical scarring
bowed shinbone
disproportionate shortening of the shankbone
abnormal axonemal organization of respiratory motile cilia
bullet-shaped innermost pinkie finger bone
fragmentation of end part of the outermost bone of the middle finger
low blood sugar in newborn
absent outermost bone of ring finger
shortened forearm
bulging of the costochondral junction
foam cells with lamellar inclusion bodies
fetal little finger curvature
dacryocystitis
abnormal spine
aplasia of the pituitary gland
broad outermost bone of the 2nd toe
vitreous hemorrhage
recurrent joint dislocations
irregular long bones of hand
heterochromia irides
abnormal complement of teeth
subcutaneous hemorrhage
calvarium thickened
multiple pancreatic cysts
large foramen magnum
frequent bleeding with trauma
triggered by galactose ingestion
abnormality of cerebrosidase metabolism
increased length of the hallux
increased bone density of end part of the middle bone of the little toe
wide humerus
facial grimacing
pterygium colli
absent/small vagina
increased bone density of end part of the 1st long bone of foot
sparse upper eyelashes
abnormality of alignment of teeth
generalized cerebral atrophy
klebsiella infections, recurrent
erlenmeyer flask femora
lymphoid interstitial pneumonitis
sex reversal
anomaly of the periorbital region
miliary osteoma
absence of canine
right ventricular noncompaction cardiomyopathy
underdeveloped lower limb bones
female pseudohermaphroditism
hypoplasia of inferior vermis
absent/underdeveloped bones of 4th toe
anterior vertebral fusion
progressive paralysis or weakness of muscles of eye motility
underdevelopment of anterior nasal spine
missing pulmonary artery
decreased pneumatization of frontal sinus
thin hair shaft
length dependent motor neuropathy
anal canal neoplasm
widely spaced teeth
abnormalities of the wrists
prolonged qtc interval
absent/small pinkie toe bones
malformation of the frontal bone
loss of facial adipose tissue
wide palm
symblepharon
extensible joints
curved outermost finger bone of the hand
curved middle bone of the index finger
aplasia of the thumb
visual field defects
vertebral clefts
axial
hypogenitalism
absent outermost digital bones
bullet-shaped distal phalanx of the 2nd toe
anti-musk antibodies
penile hypospadias
abnormality of monocarboxylic acid metabolism
short distal phalanx of toe
otitis media, recurrent
broad secondary alveolar ridge
pyorrhea
delay in central nervous system myelination
small anterior fontanel
retinal bleeding
legal blindness
episodes of ventricular tachycardia
coarctation of the aorta
epiphyseal stippling of toe phalanges
osteolytic defects of the proximal phalanx of the thumb
delayed calcaneal ossification
episodic metabolic acidosis
cutaneous syndactyly of hands
bilateral digitalized thumb
nystagmus, continuous pendular
night terror
big nose
pterygia
large capitate bone
myopathic electromyogram
deformity of the dorsum of the nose
diurnal
slender middle bone of finger
testicular neoplasia
fragmentation of the epiphysis of the middle phalanx of the 5th finger
longitudinally grooved fingernails
testicular neoplasm
common carotid artery dissection
severe neonatal hypotonia in males
prominent nasal septum
mitral valve arcade
abnormal muscle fiber desmin
missing premaxilla
abnormality of the pubic bone
genital anomalies
nonocclusive coronary artery stenosis
pituitary prolactin cell adenoma
corneal dystrophy
abnormal limbs
short middle phalanx of the second toe
abnormal social interactions
intellectual disability, progressive
radial deviation of the thumb
upper airway obstruction
palpitations
myasthenia of facial muscles
absence of frontal sinuses
thrombophlebitis
follicular hyperplasia
abnormality of the duodenum
cortical atrophy
osteosclerosis
aganglionosis of the small intestine
parathyroid carcinoma
adrenal insufficiency
orotic aciduria
uterine tumor
abnormal class-switched memory b cell count
malformation of lip
thin nose
increased diffusing capacity
calf hypertrophy
short calf bone
heterogeneity.
absent/small retina
hemoglobin in urine
abnormality of circulating b2m level
abnormal amplitude of dark-adapted dim flash electroretinogram
near sighted
widely spaced primary teeth
fragmentation of the end part of the 2nd toe bone
rpe irregularity
hyperpigmented fundi
weight faltering secondary to recurrent infections
irregular end part of the pinkie finger bones
scapular muscle hypertrophy
abnormal umbilicus
increased susceptibility to spontaneous sister chromatid exchange
uneven nostril shape
paroxysmal ataxia
uneven increase in bone density in the innermost bone of the 2nd toe
uneven increase in bone density in the innermost bone of the pinkie toe
calcium nephrolithiasis
cone-shaped end part of the outermost bone of the ring finger
eeg: spike and multispike waves, 3-4 hz
fused bones in the little toe
bracket shaped end part of the outermost bone of the 3rd toe
cervical spina bifida
contractures of the interphalangeal joint of the thumb
partial seizures with secondary generalization
intermittent fever
absent hallux epiphysis
abnormality of the olecranon
triangular end part of the innermost bone of the pinky toe
stippling of the epiphysis of the proximal phalanx of the 3rd toe
short proximal phalanx of the 4th finger
coloboma of iris
enlarged end part of thumb outermost long bone
infracardiac total anomalous pulmonary venous connection
prognathia
naris, slit-like
abnormality of pattern reversal visual evoked potentials
hypothalamic hypothyroidism
duplicated renal collecting system
eye movement abnormalities
absent inner ear
end stage renal failure
plasma cortisol low
factor viii deficiency
abnormal energy expenditure
severe sensorineural deafness
pulmonary venoocclusive disease
liver disease
abnormality of interleukin secretion
duplication of the middle little finger bone
hypoplastic/small 4th finger
xanthomata
abnormality of the dura mater
elevated prostate-specific antigen level
thick calvarial bones
irregular tarsal centers
abnormality of the head
leukokoria
complete duplication of the 1st long bone of foot
triggered by glucose ingestion
partial/complete duplication of the phalanges of the toes
underdevelopment of zygomaticomaxillary bone complex
kahler's disease
epiphyseal stippling of the first metacarpal
elevated factor v activity
abnormality of the epiphysis of the distal phalanx of the 5th finger
white lesion of the oral mucosa
interphalangeal extension contractures of thumbs
synovial hypertrophy
adult onset sensorineural hearing impairment
short innermost bone of middle finger
monobrow
behavioral abnormality
thoracolumbar kyphosis
hydrancephaly
bracket shaped end part of the middle bone of the 4th toe
partial duplication of the bones of the index finger
hyperphosphatasia
fragmentation of end part of innermost long bone of index finger
decreased pineal volume
urinary retention
abnormal zinc metabolism
depigmentation/hyperpigmentation of skin
upper limb undergrowth
subcapsular opacities
abnormality of hypopharynx
pseudoepiphysis of the proximal phalanx of the 3rd toe
absence of the primary palate bone
millium cyst
decreased length of nose
widened interpedicular distance
vulcan ear
large carpals
maxillozygomatic hypoplasia
muscle cramps
absence of corpus callosum
proximal 5th finger symphalangism
abnormality of the end part of the innermost bone of the big toe
abnormal vertebrae
gastrointestinal telangiectasia
curved terminal phalanx of the little finger
pseudoepiphysis of the 1st metatarsal
pelger-huet anomaly
abnormal muscle glycogen content
toenail dysplasia
broken-heart syndrome
grade ii preterm intraventricular hemorrhage
urinary bladder sphincter dysfunction
inflammation of artery
kidney angiomyolipoma
abnormality of the end part of the foot bone
intersex genitalia
medial rotation of the medial malleolus
gustatory lacrimation
abnormality of natural killer cells
thin scalp hair at front of head
small nasal septum
acid reflux disease
abnormal appendicular skeleton morphology
abnormal subcutaneous fat tissue distribution
bilateral fifth finger clinodactyly
absence of acoustic reflex
absent frontal sinuses
fusion involving bones of the upper limbs
ketosis
non-itchy hives
midface hyperplasia
persistent wide fontanel
diastema between upper front teeth
abnormality of the end part of the outermost bone of the middle finger
hypoplasia of the cochlea
absent innermost thumb bone
increased mobility in finger joint
pierre-robin deformity
disorder of tooth eruption
limb fasciculation
subcortical white matter calcifications
adrenal pheochromocytoma
pseudoepiphysis of the proximal phalanx of the 3rd finger
pulmonary paraglioma
simian creases
contractures of the distal interphalangeal joint of the 5th toe
diaphragmatic hernia
eeg with occipital sharp slow waves
wide upper central incisors
restrictive deficit on pulmonary function tests
absence of secondary dentition
ear cartilage calcification
lumbosacral meningocele
chronic liver failure
curved phalanges of the toes
delayed closure of anterior fontanelle
progressively abnormally enlarging skull
absent/small outermost bone of pinkie finger
anterior pituitary dysgenesis
deformity of the facial bones
underdevelopment of zygomatic bone
fragmentation of the end part of the outermost bone of the 4th toe
palpebral fissures down-slanted
abnormal brain choline/creatine ratio by mrs
small penis
short stature, rhizomelic
fused innermost and middle little toe bones
shoulder dislocation
abnormal naive b cell count
duplication of phalanx of the fourth toe
onset in adulthood
antihelical shelf
agenesis of mandibular incisor
vulvar pain
delayed primary teeth eruption
keratocysts of the jaw
age dependent penetrance
increased sickling of red cells
abnormality of the epiphyses of the 5th toe
patchy sclerosis of proximal toe phalanx
babinski sign
large forehead
ichthyosis, congenital
aplasia of paranasal sinuses
abnormality of hair volume
posteriorly-angulated ears
abnormality of the kidney
calcium channel antibody positivity
thoracic aortic aneurysm
increased length of nose
yellowish cloudy center of lens
hyperesthesia
irregular epiphysis of the 1st metatarsal
fusion involving the 4th long bone of hand
intussusception
bracket shaped end part of innermost long bone of index finger
testicular atrophy
prepartum haemorrhage
abnormality of phenylalanine metabolism
dacrocystitis
intracranial hemorrhage
shoulder girdle muscle atrophy
hyperlysinuria
distal sensation loss
missing lower jaw
atrial septum defect
malar flattening
acute
rocker bottom feet
carpometacarpal synostosis
halberd-shaped pelvis
lack of bowel sounds
finger clinodactyly
impaired thromboxane a2 agonist-induced platelet aggregation
congenital perceptive deafness
paralyzed diaphragm
pierre robin sequence
episodic hemiplegia
thickened cortices of long bones
metatarsus varus
telangiectasia of extensor surfaces
bullet-shaped innermost bone of index finger
extinction of electroretinogram
muscular atrophy
absent middle phalanx of the 3rd toe
early loss of deciduous teeth
decreased immunoglobulin level
confetti hypopigmentation pattern of lower leg skin
flattened nasal tip
hanging skin
elevated csf biopterin level
widespread gum disease
congenital bronchial atresia
coronal cleft of vertebrae
hypoplastic/small middle phalanx of the 5th toe
narrow cranium shape
av nodal reentry tachycardia
t-cell acute lymphoblastic leukemias
decreased corneal sensitivity
small terminal thumb phalanx
pectus excavatum inferiorly
bitot's spots
lower respiratory tract infections
abnormal bmi
hand oligodactyly
renal medullary pyramid hypoplasia
persistent lactic acidosis
triangular shaped proximal phalanx of the 2nd finger
aplasia/hypoplasia involving the carpal bones
abdominal protuberance
short forearm bones
hypoplastic sternum
abnormality of the fingertips
increased reticulocyte count
accessory oral frenulum
lymphoproliferative disorders
hyperpnea, episodic
fragmentation of end part of the outermost bone of little finger
multiple long-bone exostoses
brain wasting
hypoplastic helices
raynaud phenomenon
abnormality of retinal pigment epithelium
multiple intervertebral disk calcifications
abnormality of tibial epiphyses
cone-shaped epiphyses of the hallux
ivory epiphysis of the middle phalanx of the 5th finger
irregular end part of long bone
abnormality of spinal facet joint
noisy breathing
markedly reduced t cell function
curved phalanges of the 5th toe
poorly folded helices
black feces
adrenal hypoplasia
hemifacial hypoplasia
decreased circulating beta-2-microglobulin level
abnormal kneecap
large tooth
bleeding poost-delivery
delayed gastric emptying
cerebral cortex with spongiform changes
increased pulmonary artery pressure
downslanted palpebral fissures
enlarged end part of the 1st long bone of hand
reticulate hyperpigmentation
aplasia/hypoplasia of the proximal phalanx of the 5th finger
poor speech acquisition
s-shaped eyes
anterior wedging of the 12th thoracic vertebra
morphological anomaly of the digestive system
pronounced nasal tip
narrow sacrosciatic notch
hypoplastic/small phalanges of the 2nd toe
decreased number of milk teeth
brisk knee jerk
calvarial thickening
hemimacroglossia
depressed dorsum of nose
herniated intervertebral nuclei
wide humeral epiphyses
recurrent episodes of impetigo
absent middle bone of pinkie toe
broad hallux phalanx
wide long bone of upper arm
bowing of the tibia
hyperplasia of the intermaxillary bone
absent epiphysis of the middle phalanx of the 2nd toe
decreased glomerular filtration rate
deep median tongue furrow
cerebral inclusion bodies
increased carrying angle
short distal phalanx of the 4th finger
peripheral demyelination
triangular end part of the innermost bone of the 2nd toe
funnel chest
predominantly lower limb lymphedema
left ventricular - right atrial communication
abnormal thrombosis
inflammation of oral commisures
chemosis
decreased renal tubular phosphate reabsorption
low serum testosterone levels
oncholysis
fragmentation of the epiphyses of the 3rd toe
prominent forehead
cardiac insufficiency
ivory epiphysis of the thumb
increased serum estradiol
biliary tract neoplasm
intestinal fistula
factor xi deficiency
abnormality of the urethra
comitant strabismus
abnormality of the nervus trigeminus
atrioventricular septal defect
abnormality of hyoid bone
prominent superior crus of antihelix
triangular shaped thumb phalanx
abnormality of the pylorus
aplasia involving forearm bones
photomyoclonic seizures
cataract
maxillary retrognathia
mild mental retardation
hemiplegia/hemiparesis
thin dental enamel
situs oppositus
progressive distal muscle weakness
broad middle bone of the pinkie toe
small end part of the outermost long bone of the middle finger
breast aplasia
hyperostosis of the internal surface of the cranial bones
abnormality of the proximal phalanx of the thumb
tongue hypertrophy
clavicle pseudoarthrosis
agnosia
cone-shaped metacarpal epiphyses
fragmentation of the end part of the innermost bone of the big toe
aplastic pubic bones
thenar hypoplasia
abnormality of ornithine metabolism
underdeveloped right heart chamber
postaxial polydactyly of hand
fused of innermost and middle bones of middle finger
stippling of the epiphyses of the thumb
swelling of eyelids
wide nasal septum
triggered by dehydration
supernumerary kidney
duplication of the bones of the pinkie toe
high-pitched voice
small antitragus
abnormal layering of muscularis propria
horizontal crus of helix
aplasia of the metatarsal bones
neoplasm of the pars anterior
deformity of the upper lip
absent/small 2nd long bone of hand
osteomalacia
bone marrow disease
enlarged interphalangeal joints
painful or difficult urination
complete heart block
abnormality of the telencephalon
bullet-shaped 3rd toe phalanx
decreased nasal size
absent carpal bones
penis tumor
dysplastic granulopoesis
clubfeet
abnormality of the cerebral white matter
uterine malformations
missing stensen duct
retinal exudate
enlarged epiphyses of the distal phalanges of the hand
bear track congenital hypertrophy of retinal pigment epithelium
humeral exostoses
central cleft of nose
buried ear
bullet-shaped outermost pinky finger bone
complete duplication of the innermost pinky finger bone
cystic abnormalities of the ovaries
cranial nerve palsy
sclerosis of hand bones with transverse striations
feeding problems
anterior pituitary hypoplasia
bullet-shaped middle phalanges of the hand
dysmenorrhea
genu valga
missing upper jaw bones
elevated serum transaminases
hyperactive bowel sounds
temporomandibular joint ankylosis
cone-shaped epiphyses of the middle phalanges of the hand
short 4th long bone of foot
underdeveloped pupil dilator muscle
retinal hamartoma
squamous cell lung carcinoma
abnormality of the musculature of the neck
absent nail of big toe
hypokinesia of the tongue
prematurely aged appearance
failure of development of premolar
abnormal brain choline level by mrs
genua valga
aplasia/hypoplasia of the external ear
small epiphyses of the proximal phalanges of the hand
hypotrophic nasal bridge
decreased width of milk teeth
stretchable skin
abnormality of chromosome stability
curved outermost bone of the pinky toe
hypoplastic iris
duplication of big toe bone
acroosteolysis
tracheoesophageal fistula
abnormality of the cardiac septa
periorbital dermoid cyst
splenic cyst
speckled calcifications in the end part of the outermost bone of the pinky toe
central hand polydactyly
propionyl-coa carboxylase deficiency
renal enlargement
symmetric peripheral demyelination
increased variation in fiber size
hypoplastic ulna
difficulty getting an erection
hypoplastic iliac wing
slender, gracile long tubular bones
excessive orbital separation
pronounced nose
abnormality of limb epiphysis morphology
small eyes
pseudoepiphysis of the middle phalanx of the 3rd toe
syndactyly of toes 2, 3 and 4
liver tumor
kyphoscoliosis
hyperkeratosis of the palms and soles
posterior subcapsular opacities of the lens
enlarged end part of the middle bone of the pinky toe
unopened tear duct
short 2nd finger
delayed motor milestones
aplasia of the distal phalanx of the 3rd finger
dental abnormalities
x-linked dominant
red cell aplasia
hypoplastic/absent metacarpal bones
lafora bodies
increased size of permanent upper central incisor
phimosis
hypoplasia of the ear cartilage
aplasia of the lower vagina
partial duplication of the 1st long bone of foot
aplasia of the radius
peg shaped teeth
acral keratosis
partial duplication of the middle phalanx of the 4th toe
cervical vertebral bodies with decreased anteroposterior diameter
scrotal hypoplasia
abnormal ejaculation
wide 1st long bone of hand
abnormal aggressive, impulsive or violent behavior
supraventricular tachycardia with a manifest accessory pathway on the left free wall
single atrium
overactive bladder syndrome
hair hypopigmentation
cupped metaphysis of hand bones
short condylar head of mandible
agenesis of pineal gland
abnormality of the oral cavity
proximal upper limb muscle atrophy
increased bone density in the outermost bone of the 3rd toe
duplication of the proximal phalanx of the 4th toe
broad collarbone
crooked nasal tip
protracted diarrhea
abnormality of krebs cycle metabolism
keratoconjunctivitis sicca
pinhole visual acuity 0.8 logmar
proximal interphalangeal finger joint contractures
shoulder muscle hypoplasia
conical tooth
increased bone density in shaft of long bone
extra cusp on inside of front tooth
atrioventricular canal defect
abnormality of the vertebrae
ovarian teratoma
wide outermost end of long bone
gray colored tooth enamel
broad bones of the 4th toe
neonatal short-limb short stature
partial/complete duplication of the phalanges of the big toe
bullet-shaped proximal phalanx of the 3rd finger
deformed sella turcica
optic glioma
abnormal periosteum morphology
absent/underdeveloped innermost 2nd toe bone
faltering weight
flattened rete pegs
adducted thumb
cone-shaped end part of finger bones
ossification of pinnae
premature pubic hair growth
sleep terror
high serum alkaline phosphatase
curvature of big toe
acute kidney failure
laryngeal calcifications
onycholysis of fingernail
unilateral vocal cord paralysis
aplasia of cranial nerve viii
subcapsular lenticular cataracts
low blood arginine levels
triangular long bone of upper arm
placental infarction
upper limb asymmetry
neoplasm of the nasopharynx
decreased transferrin saturation
gastric duplication
abnormal liver function
hypoplasia of the capital femoral epiphysis
amaurosis fugax
paroxysmal dyspnea
fragmentation of the end part of the toe bones
recurrent serratia marcescens infections
thin, gracile long bones
sagging uterus
superior rib anomalies
bullet-shaped innermost ring finger bone
bushy eyebrows
triangular end part of the outermost bone of the 4th toe
choroid plexus papilloma
abnormality of the phalanges of the hand
inertia
decreased urine bicarbonate concentration
anterior chamber malformation
cone-shaped end part of innermost thighbone
hidrotic ectodermal dysplasia
fragmentation of the epiphysis of the distal phalanx of the 5th toe
abnormality of deciduous molar morphology
increased width of nasal dorsum
optic neuritis
vitamin b12 deficiency caused by intestinal malabsorption
enlarged end part of the innermost bone of the pinkie toe
facial hemangiomata
bullet-shaped phalanges of the hands
atrophy of the spinal cord
cerebellar granular layer atrophy
failure of development of primary mandibular central incisor
agenesis of the diaphragm
speckled calcifications in the end part of the innermost hand bones
degeneration of anterior horn cells
degenerative enteric myopathy
decreased erythrocyte sedimentation rate
gower sign
aplasia cutis congenita of midline scalp vertex
throat swelling
triangular end part of thumb innermost long bone
absent kidney
granulomatous coronary arteritis
red teeth
aplasia/hypoplasia of the vertebrae
gastrointestinal inflammation
mild neurosensory hearing loss
inability to move vocal cords
localized abnormal hair growth
bdca-3
anhidrosis
fragmentation of end part of the middle bone of the pinky finger
renal interstitial fibrosis
severe weight faltering
absence of incisors
uneven upper jaw
photosensitivity
photosensitive skin
shortness of breath
hypotrichosis of lower eyelashes
foveal intraretinal hyporeflective spaces on macular oct
hypocarbia
delayed maturation of the head of the thigh bone
duplication of the middle bone of the middle finger
fused finger bones of the hand
broad thumbs
rhizomelic dwarfism
cholangiocarcinoma
abnormality of the tricarboxylic cycle
low maternal serum alpha-fetoprotein
hypoplastic nasal bridge
metacarpal aplasia/hypoplasia
wide calf bone
eeg with parietal sharp slow waves
elongated eyebrow
prominence of cheekbone
abnormality of facial bones
patellar abnormality
cutaneous infections
apnea
ventricular septum abnormality
premature closure of the cranial sutures
lytic defects of middle finger phalanges
blindness present at birth
absence of permanent mandibular lateral incisor
recurrent sinus disease
abnormality of glycoside metabolism
broad face
poorly ossified skull
triangular end part of the 2nd toe bone
polydactyly affecting the 3rd finger
cardiac diverticulum
metaphyseal chondromatosis of femur
ranula
focal dystonia
fragmentation of the epiphyses of the 5th finger
absent external auditory canals
failure of development of primary maxillary central incisor
proximal foot symphalangism
aged leonine appearance
paradoxical increased cortisol secretion on dexamethasone suppression test
narrow palate
myelodysplasia
abnormality of the outermost end part of calf bone
distal upper limb muscle atrophy
odontomas
malformation of the nose
decreased length of hard palate
increased risk of pancreatic cancer
glaucoma
triangular end part of the pinky toe bone
claw hand
neuronal loss in the cerebral cortex
chorioretinal atrophy
irregular metacarpals
flared humerus
spontaneous hemolytic crises
external carotid artery dissection
neoplasm of the stomach
internal carotid artery dissection
lower lip pit
oral leucoplakia
pseudobulbar behavioral symptoms
missing adult upper central incisor
abnormality of lingual movement
long eyelashes in irregular rows
dimpled tip of nose
abnormal urinary odour
adenohypophysis
speckled calcifications in bone end parts in neonates
abnormality of male external genitalia
reduced kininogen activity
takotsubo cardiomyopathy
short middle phalanx of the third toe
abnormality of end part of shinbone
narrow uvula
broad ribs
type 3 total anomalous pulmonary venous connection
recurrent neisserial infections
uterine neoplasia
coronary artery stenosis
decreased activity of mitochondrial respiratory complexes
abnormality of bone calcification of calvarium
broad skull
tremor of hands
abnormal migration of corneal endothelium
fused little finger bones
deficient platelet aggregation
absent end part of the middle bone of the ring finger
dental enamel hypoplasia
small epiphyses of the phalanges of the hand
velvety skin texture
polydactyly, preaxial
atresia of the external auditory canals
acute myelomonocytic leukemia
triangular end part of the 1st long bone of foot
neurinoma
hypoplasia of the fallopian tube
retinal depigmentation
speckled calcification in metaphysis of long bone of upper arm
increased wrist mobility
congenital amaurosis
primary generalised tonic-clonic seizures
duplication of the middle phalanx of the 3rd toe
broad neck
conjunctival telangiectasia
excessive hair growth
triangular shaped outermost bone of the hand
absent/underdeveloped index finger
recurrent hiccough
abnormal pinnae
missing deciduous mandibular central incisor
distal sensory loss of all modalities
nystagmus, congenital
stippling of the epiphysis of the middle phalanx of the 2nd toe
gross motor delay
abnormality of sarcosine metabolism
decreased ldl
death in adolescence
pectus carinatum superiorly
facial tics
wittmaack-ekbom syndrome
absent end part of index finger
pelvic exostoses
cleft maxillary alveolus
abnormality of the cranial nerves
single maxillary central incisor
progressively abnormally enlarging cranium
abnormal gallbladder physiology
enlarged end part of the big toe bone
concave nail
lymphedema
neoplasm of the colon
hypokalemic periodic paresis
enlarged costochondral junctions
palatal angioectasia
increased serum lactate
irregular epiphyses of the 2nd toe
acid phosphatase elevated
poor social interactions
hypoplastic/small phalanges of the hand
bulimia
soft tooth enamel
increased red blood cell mass
unilateral renal dysplasia
posterior pharyngeal cleft
aplasia of the phalanges of the hallux
bilateral absence of radius
macromelanosomes
cone-shaped end part of the 4th toe bone
radicular
webbed 1st-5th toes
thickened skull cap
absent metacarpal
microcornea
abnormality of the humeral epiphyseal plate
curved 1st metacarpal
over-folded helices
flexion contractures of joints
abnormal shape of the frontal region
prominent eyes
short outermost bone of the thumb
bullet-shaped 4th toe phalanx
mild proteinuria
protruding bridge of nose
short fifth metacarpal
deformed ankle bones
late eruption of primary teeth
broad opening between the eyelids
abnormality of the diencephalon
gemination
abnormality of hair color
cerebrovascular accidents
thromboembolic disease
hypersomnia
muscle weakness, proximal, lower limbs
end-organ unresponsiveness to thyroid hormone
enlargement of the distal femoral epiphysis
retinoschisis involving the fovea
spastic hemiplegia
twitching of facial muscles
single isolated congenital hypertrophy of retinal pigment epithelium
cystoid macular oedema
scarring
bilobate gallbladder
extrapyramidal symptoms
obsolete metaphyseal abnormality of middle phalanx of the 2nd finger
microglossia
renal glomerular fibrosis
absent testes
vocal tremor
absent/underdeveloped fingers
broad end part of long bone of hand
skin abnormality
abnormal size of nasopharyngeal adenoids
fragmentation of the epiphysis of the middle phalanx of the 4th finger
abnormality of shoulder musculature
ala higher than columella
atransferrinemia
shortened 4th long bone of hand
pelvic bone exostoses
abnormality of the 2nd metacarpal
3-hydroxydicarboxylic aciduria
abnormality of the helix
bullet-shaped outermost finger bone of the hand
protruding upper incisors
absent middle bone of the 3rd toe
abnormality of end part of little finger bone
short thumb phalanges
enlarged epiphyses
sclerosis of the phalanges of the 5th toe
abnormal timing of light-adapted flicker electroretinogram
decreased size of baby teeth
reduction of corneal clarity
short middle phalanx of the fourth toe
impaired arachidonic acid-induced platelet aggregation
hypocalcemic tetany
venous varicosities of celiac and mesenteric vessels
alveolar ridge cleft
flattened cervical vertebral bodies
small chest
bracket epiphysis of the distal phalanx of the 3rd toe
bulbar palsy
primary adrenal insufficiency
false joint (long bone in upper arm)
shortening of all distal phalanges of the toes
asymmetry of the upper jaw
partial duplication of the middle phalanx of the 2nd finger
basal cell carcinomas
hypoplasia of the epiglottis
congenital lamellar cataracts
abnormality of index finger
irregular epiphysis of the proximal phalanx of the 3rd toe
mixed cirrhosis
centripetal obesity
aplasia of the index finger
abnormality of the prostate
pectus carinatum or pectus excavatum
rectal abscess
difficulty sleeping
underdeveloped ear cartilage
bedsore
aplasia/hypoplasia of the 3rd metacarpal
3-5 toe syndactyly
shallow acetabulae
accelerated maturation of hand bones
cupid's bow, accentuated
reduced xanthine dehydrogenase activity
pectoral muscle hypoplasia/aplasia
red bump on eyelid
abnormal echocardiography
posterior auricular sinus
increased bone density of end part of the middle bone of the index finger
recurring pancreatitis
chronic hepatic failure
coloboma of choroid
decreased platelet p2y12 receptor
very frequent (99-80%)
abnormality of the end part of the middle hand bones
choroidal coloboma
small alveolar process of jaw
abnormal glucagon level
hypoplastic iliac body
absent distal phalanx of the 4th toe
flat cornea
broad foot
absent ossification/absent proximal thumb phalanx
testicular and ovarian tissue present
attenuation of retinal blood vessels
almond shaped eyes
congenital cataracts
abnormality of shaft of long bone of the limbs
broad nail
acute fatty liver
laryngeal abnormalities
elevated plasma renin
absent epiphysis of the middle phalanx of the 2nd finger
hypertrophy of facial skeleton
fused innermost bone of index finger with 2nd long bone of hand
malignant peripheral nerve sheath tumor
camptodactyly of the third finger
cerebellar ataxia associated with quadrupedal gait
abnormality of creatine metabolism
missing skin on limbs since birth
abnormal innermost index finger bone
irregular ulnar metaphysis
pancreatic disease
elevated transferrin saturation
growth abnormality
abnormality of the middle phalanx of the 5th toe
subpleural interstitial thickening
congenital large skull
cerebellar cysts
obsolete retinal malformation
pallor
chronic sensorineural polyneuropathy
fatigable weakness of swallowing muscles
small carpals
3-methylglutaricaciduria
atypical nevi in non-sun exposed areas
bracket shaped end part of the innermost hand bones
polymenorrhea
deformity of the nasal bones
flexion contractures at both knees
telangiectasia of mucous membrane of nose
specific anosmia
acral ulceration and osteomyelitis leading to autoamputation
gastrointestinal arteriovenous malformation
anomaly of mouth shape
failure of development of ethmoid sinuses
head and neck tumor
extra ribs
atypical pulmonary carcinoid tumor
severe global developmental delay
episodic rapid heart beat
nuclear cataract
abnormal involuntary eye movements
curved middle bone of 4th toe
preexcitation
absent/underdeveloped innermost index finger bone
molluscoid pseudotumor
persistent stapedial artery
hypomagnesemia
abnormal origin of the coronary arteries
abnormality of the nose
wide gaps between baby teeth
long umbilical cord
large nose
osteolysis involving bones of the upper limbs
abnormality of the meninges
boxer-like facial appearance
tubulointerstitial renal fibrosis
irregular epiphysis of the proximal phalanx of the 4th finger
postaxial hand polydactyly
rosette-forming glioneuronal tumor
defect of palpebral conjunctiva
dense metaphyseal bands
high urine uric acid level
flat femoral capital epiphyses
hypoplastic femoral head
generalized lipodystrophy
subcutaneous lipoma
abnormality of skin adnexa morphology
hyperostosis of calvarial bones
partial/complete duplication of the outermost bone of the middle finger
exostoses of the radial metaphysis
hyperplasia of the premaxilla
loss of purkinje cells in the cerebellar vermis
restrictive lung disease
response to drugs acting on neuromuscular transmission
knee clonus
medially sloping radial metaphysis
impaired epinephrine-induced platelet aggregation
mesoaxial foot polydactyly
partial motor seizures
abnormality of the outermost bone of the little toe
onset in first weeks of life
aortic insufficiency
horseshoe kidneys
progressive disorder
nasolabial fold, hypoplastic
ivory epiphysis of the proximal phalanx of the hallux
abnormal male genital system physiology
absent/underdeveloped pancreas
broad growth plates of upper limbs
bilateral renal agenesis
lumbar hyperlordosis
lower limb phocomelia
abnormalities of the hallux
neonatal onset
abnormal number of hair swirls
obsolete pinealoblastoma
partial duplication of the middle phalanx of the third toe
electroretinogram: reduced b-wave amplitude
borderline personality disorder
increased distance between eyes
increased bone density in innermost bone of the middle finger
spinocerebellar atrophy
dimple on nasal tip
abnormal lip
abnormality of the large intestine
impaired two-point discrimination
broad shaft of long bone of hand
mid-frequency hearing loss
retinal atrophy
abnormality of blood circulation
elevated cup to disc ratio
abnormal enzyme/coenzyme activity
abnormality of pace of hair growth
pleural lymphangiectasia
muscle atrophy, diffuse
short middle finger
nonketotic hypoglycemia
prelingual sensorineural deafness
coronary disease
prolinuria
underdevelopment of paranasal sinus
areflexia of upper limbs
duplication of the middle bone of the 3rd toe
phospholipid antibody positivity
pigmentation anomaly
neurogenic scapuloperoneal syndrome
excessive sleepiness
fusion of gums
ectopic supraventricular rhythms
abnormality of cranium shape
horizontal eyebrow
patchy depigmentation
localized hypoplasia of dental enamel
erythrocyte stomatocytes
clitoral hypoplasia
low hanging nasal septum
agenesis of primary mandibular lateral incisor
extra pinky finger
periventricular leukomalacia
narrow femoral necks
notched outermost pinky finger bone
bronchitis, recurrent
absent anterior eye chamber
elevated brain n-acetyl aspartate level by magnetic resonance spectroscopy
laryngeal stenosis
fine motor impairment
increased liver iron level
neonatal hypoparathyroidism
elevated serum ige
elevated serum iga
decreased nerve conduction velocities
abulia
abnormality of the metencephalon
multiple rectal polyps
pseudoepiphyses of the proximal phalanges of the hand
malar hypertrophy
narrow bitemporal width
abnormality of end part of the innermost bone of the pinky finger
broad terminal thumb phalanx
epiretinal membranes
peg-like central prominence of distal tibial metaphyses
outward facing eye ball
bullet-shaped proximal phalanx of the 3rd toe
wide diaphyses of the upper limbs
decreased platelet glycoprotein iib-iiia
stippled calcification of hand bones
short outermost bone of the middle finger
high blood phenylalanine level in mother
notched outermost bone of the ring finger
ulnar angulation of the index finger
bilateral ductus arteriosus
abnormality of proline metabolism
overgrowth of the inner surface of the frontal bone
sclerosis of 5th toe phalanx
neoplasm of the urethra
impaired saccades
premature epimetaphyseal fusion in tibia
hemihypotrophy of upper limb
enlarged epiphysis of the distal phalanx of the hallux
truncus arteriosus
deformity of hypophysial fossa
dilated cerebral perivascular spaces
breathing cessation
irregular outermost thighbone end part
ureter, cancer of
respiratory infection
stage 4 chronic kidney disease
absent/small outermost pinkie toe bone
extinguished electroretinogram
absent/underdeveloped sweat glands
bilateral trilobed lungs
nail aplasia/hypoplasia
abnormal intramembranous ossification
pineal parenchymal tumour
abnormal timing of dark-adapted bright flash electroretinogram
aplasia/hypoplasia of the middle phalanx of the 5th finger
right atrial dilatation
scapulohumeral muscular dystrophy
oculomotor nerve palsy
uneven sides of face
hyperlysinemia
frontal plagiocephaly
ventricular preexcitation
absent fourth finger distal interphalangeal crease
curved outermost little finger bone
rectal polyps
anisospondyly
head-banging
progressive cerebellar ataxia
increased stomach size
curved pinkie toe bones
progressive visual impairment
congenital absence of foreskin
shoe-shaped sella turcica
dislocation of patella
embryonal renal neoplasm
camptodactyly of middle finger
onychophagy
increased calcification of skull
total anomalous pulmonary venous return
small upper lateral incisor
delta-shaped epiphysis of the proximal phalanx of the 3rd finger
joint contractures of the fourth finger
lack of eyebrow arch
humeroscapular synostosis
complete duplication of the middle phalanx of the 4th toe
obstructive sleep apnoea
synostosis involving the tibia
cutis laxa
heteronymous hemianopia
hand deformities
pustulosis of palms and soles
abnormality of skin adnexa physiology
abnormality of nucleobase metabolism
delayed epiphyseal ossification
hyperhidrosis, episodic
supranuclear ophthalmoplegia
depletion of mitochondrial dna in muscle tissue
mixed demyelinating and axonal polyneuropathy
axillary apocrine gland hypoplasia
hand muscle weakness
bile duct cancer
ipsilateral lack of facial sweating
absence of eye tooth
partial absence of eyelashes
posteriorly dislocated ulna
tooth mass insufficiency
delayed eruption of secondary teeth
missing lower front tooth
fibrofolliculomas
regenerative activity on nerve biopsy
abnormality of tooth shade
abnormal dermatoglyphics
abnormality of the epiphyses of the toes
developmental retardation
increased size of palpebral fissures
anterior polar cataract
postaxial polydactyly
wide big toe
delayed ossification of the proximal femoral epiphysis
suprasellar arachnoid cyst
candida overgrowth syndrome
pigmentary changes in the peripheral retina
shallow supraorbital ridge
high-frequency deafness
curved middle phalanx of the 5th finger
lytic defects of ulnar metaphysis
decreased factor x activity
abnormality of glycolipid metabolism
bipolar disorder
partial duplication of the innermost bone of 3rd toe
spurred wide portion of upper limb bone
increased number of b cells
hypotelorism
webbed 4th-5th finger
increased cup disc ratio
miosis
absent/small abdominal wall muscles
parotitis
small cerebral cortex
birth length less than 3rd percentile
medially flattened radial epiphyses
multiple neurofibromas
abnormal shape of nervous system
enlarged ovaries
renal amyloidosis
obsolete choroid coloboma
osteolysis
lateral ventricle dilatation
downward slanting of the opening between the eyelids
hearing loss
granulomatosis
band-shaped corneal dystrophy
hyperleucinemia
multiple unerupted adult teeth
oligomenorrhea
decreased serum aldosterone
retinal hypoplasia
parasomnia
carotid stenosis
periostitis
increased serum renin
thoracic kyphoscoliosis
renal ectopia
supraventricular tachycardia with a concealed accessory pathway on the septum
abnormal ossification of hand bones
beaked nails
multiple non-erupting secondary teeth
right atrial enlargement
uneven increase in bone density in the outermost bone of the 4th toe
aplasia/hypoplasia of the 5th finger
prominent nasolabial groove
decreased activity of the pdh complex
sclerosis of the 1st metacarpal
discoid lupus rash
iris hypoperfusion
hypoplastic iliac bodies
compression fracture
pointed front tooth
abnormal bone structure
abnormality of the cerebellar peduncle
thyroid dysgenesis
slow movements
asymmetry of the pupils
pinched nasal bridge
rete ridge flattening
enlarged end part of the index finger
edema of dorsum of hands and feet
long palatine uvula
decreased facial expression
elevated thyroid stimulating hormone
inverted nipples
epidermal inclusion cyst
aplasia/hypoplasia affecting the eye
drooping lower lip
pugilistic facial appearance
thin, sparse hair
sea-blue histiocyte
squint
glucose tolerance decreased
progressive cataract
dry skin
bullet-shaped proximal phalanx of the 4th finger
straw colored hair
hypoproteinemic edema
short thumb bone
cd43 defectively expressed on surface of blood cells
tonic-clonic convulsion
abnormality of the nasal alar cartilage
nasal bridge, narrow
bullet-shaped proximal phalanx of the hallux
pulmonary incompetence
alveolar synechiae
rotated maxillary central incisors
abnormality of the orbital bones of skull
short 4th toe bone
triangular shaped phalanges of the 2nd toe
bullet-shaped pinky finger bones
ossifying fibroma
tooth abnormalities
spastic ataxia
abnormal humeral ossification
periventricular white matter abnormalities
precocious puberty
vitreous opacities
abnormality of the basal ganglia
ovarian tumor
long finger bone
motheaten muscle fibers
tumor of the nasopharynx
fused innermost pinky toe bone with the 5th long bone of foot
irregular distal femoral metaphyses
broad innermost little finger bone
fibre splitting
myoclonus of limbs
impaired collagen-induced platelet aggregation
fragmentation of the end part of the outermost bone of the 2nd toe
chin with vertical groove
thick nasal septum
broad phalanx of the toes
pigmented gums
bifid first metacarpal
pinched bridge of nose
congenital shortened small intestine
pseudoepiphysis of the fingers
diffuse amyotrophy
hyperbilirubinemia, neonatal
square facial shape
pointed ear
prominent innermost hinge joints
abnormal intramembranous bone ossification
renal calculi
dysesthesia
tower skull shape
acromesomelia
thick eyebrow
small cell lung cancer
loss of consciousness due to hypoglycemia
high posterior hairline
fragmentation of the epiphyses of the toes
morphea
sensorineural hearing loss
hypomethioninemia
hypoplasia of lymphatic vessels
absent lacrimal puncta
low-grade adenocarcinoma of endolymphatic sac origin
onycholysis
hypersarcosinemia
foveal hypoplasia
elevated amniotic fluid alpha-1-fetoprotein
abnormality of external jugular vein
mesomelic arm shortening
bleeding tendency
hypoplasia of upper jaw bones
pseudarthrosis of the radius
portosystemic collateral veins
nocturnal lagophthalmos
marfanoid body habitus
missing eyelids
uneven increase in bone density in the innermost bone of pinky finger
increased width of the forehead
cerebrovascular accident
abnormal maternal serum screening
nephronophthisis
central hypotonia
dupuytren contracture
motor and developmental delay
pulmonary infections
tapering fingers
decreased dlco
abnormality of the hairline
renal tubular lysine transport defect
hypotrophic tooth
broad feet
curved distal phalanx of the 2nd toe
cranial suture ridges
aplasia of the 1st metacarpal
cranial suture synostosis
sinus tachy
prostatic cancer
laryngeal cartilage malformation
hypoplastic/aplastic femora
genitourinary tract anomalies
abnormality of the femoral neck or head region
hearing loss, conductive
nevus flammeus
corticotropin deficiency
small for gestational age infant
tic douloureux
high urine homocystine levels
prolonged mepp
malformation of pituitary fossa
thyroid c cell hyperplasia
prolonged mepc
morphological abnormality of the utricle
spinal ataxia
granulomatous enteritis and colitis
abnormality of ganglion
absent merosin staining in muscle biopsy
tapering pointed ends of distal finger phalanges
wide carpal bones
persistent, open anterior fontanel
constriction of peripheral visual field
abnormality of the philtrum
nocturnal
anterior beaking of vertebrae
presenile cataracts
abnormal craniofacial posture
small semicircular canal
abnormality of phalanx of the 2nd toe
atherosclerotic changes of aorta
aplasia/hypoplasia of the uvula
abnormal shape of thalamus
small forehead fontanel
gastrointestinal stroma tumor
small mouth
high blood uric acid level
deep plantar creases
duplication of the middle phalanx of the fourth toe
pinhole visual acuity 0.3 logmar
tic disorder
absent/underdeveloped uvea
endocrine system disease
thyrotoxicosis with diffuse goiter
notch of lower gum ridge
retruded nasal dorsum
abnormality of the crus of the helix
contiguous gene syndrome
crowded upper front teeth
prolactin excess
type 3 truncus arteriosus
cone-shaped end part of the innermost bone of pinky finger
acute hepatic failure
upper lip pit
protanomaly
juvenile aseptic necrosis
complete duplication of the outermost bone of the little toe
endocardial cushion defect
blond hair
intra sutural bones
extra spleen
c4b deficiency
pain characteristic
eeg with generalized epileptiform discharges
congenital generalized lipodystrophy
organic aciduria
depressed visual field
camptodactyly of the 2nd toe
stress urinary incontinence
forehead hyperpigmentation
abnormality of radial epiphyses
gastrojejunal tube feeding in infancy
abnormality of central somatosensory evoked potentials
hypoparathyroidism
abnormality of the pharynx
triangular end part of ring finger bone
dexamethasone-suppresible primary hyperaldosteronism
abnormality of posterior crus of antihelix
hypoplastic alar nasae
coronal vertebral clefts
abnormality of bone mineralization of skull
short index fingers
gliosis in the basal ganglia
elevated heart rate
impaired adp-induced platelet aggregation
esophageal web
abnormal complement of permanent teeth
nasal bridge, wide
hemifacial spasm
intraocular melanoma
malignant hyperthermia with anesthesia
absent finger bone of the hand
positive ferric chloride test
symphalagism of the little finger
short to absent middle phalanges
joint contractures of the 3rd toe
split-hand
intrasutural bones
thumb aplasia/hypoplasia
thin eyebrows
limited eye movement from duane anomaly
absent end part of the innermost bone of the 3rd toe
progressive visual field defects
short fourth metatarsus
notched ulna
anxiety disease
cervical c2/c3 vertebral fusion
increased bone density in the outermost pinkie finger bone
bullet-shaped distal phalanx of the 3rd toe
microtia, second degree
telangiectasia macularis eruptiva perstans
semilobar holoprosencephaly
hypoplasia of fetal nasal bone
naevus sebaceous
fragmentation of the epiphysis of the distal phalanx of the thumb
ivory epiphysis of the middle phalanx of the 3rd finger
double inlet to single ventricle with two atrioventricular valves
deficient ossification of hand bones
abnormality of the distal phalanx of the 5th toe
unilateral hypoplasia of pectoralis major muscle
small epiphysis of the middle phalanx of the 3rd toe
redundant skin over the neck
rotary nystagmus
aortic tortuosity
abnormal visual behaviour for age
impaired von willibrand factor collagen binding activity
absent/small outermost ring finger bone
abnormality of the end part of the big toe bone
abnormal color vision
triangular shaped innermost bone of index finger
fetal pyelectasis
renal potassium wasting
failure of dental eruption due to mucopolysaccharidoses
flattening of the skull base
agenesis of deciduous mandibular lateral incisor
abnormality of the myocardium
microcolon on contrast enema
hemitruncus
aplasia/hypoplasia involving the nose
malformed pinnae
genetic anticipation
cancer of salivary gland
small innermost thighbone end part
small epiphysis of the middle phalanx of the 4th finger
aplasia/hypoplasia of the frontal sinuses
abnormal albumin level
iris coloboma
urticaria
underdeveloped inferior crus of antihelix
increased purine levels
severe delay of eruption of permanent teeth
symphalangism affecting the middle phalanx of the 3rd toe
abnormality of the mastoid
abnormality of the cerebral blood vessels
prominent columella
shark tooth
fifth finger brachydactyly
irregularity of wide portion of calf bone
femoral hypoplasia
variation in muscle fiber size
dislocated radial heads
absent epiphysis of the distal phalanx of the 3rd finger
patchy sclerosis of 2nd toe phalanx
calcifications of the cardiac valves
anterior chamber cleavage disorder
intralobar nephroblastomatosis
increased length of lower eyelashes
lower jaw retrusion
diverticulum of the coronary sinus
meibomian gland lipogranuloma
short bridge of nose
cystathioninuria
cleft at the superior portion of the ear
aplasia/hypoplasia of the lungs
broad innermost toe bone
abnormality of the renal tubule
open sutures
wafer-thin platyspondyly
deformed radius
drug-sensitive hemolytic anemia
cone-shaped epiphyses fused within their metaphyses
visceral angiomatosis
macrodactyly of hands
lingual fasciculations
moderate proteinuria
absent innermost bone of the little toe
eyelid dermatochalasia
thickened superior cerebellar peduncle
wide head of thigh bone
uneven increase in bone density in little toe bone
homonymous hemianopia
bone marrow smear shows erythroid hyperplasia
tertiary adrenal insufficiency
abnormality of hairline at back of head
orchitis
ulnohumeral dislocation
thin cortices
glutaricaciduria
oculodermal melanocytosis
triangular skull shape
delayed loss of deciduous teeth
phosphaturia
curvature of 3rd toe
childhood onset
abnormality of foot cortical bone
fatal liver failure in infancy
gordon sign
aplasia/hypoplasia of the phalanges of the 2nd toe
hypoplasia involving bones of the upper limbs
cloverleaf skull
prominent medial palatal suture
neuroendocrine neoplasia
cutaneous 2,3 toe syndactyly
hypoplastic/small distal phalanx of the 3rd finger
igm deficiency
osteolytic defects of the distal phalanges of the hand
bilateral retinal coloboma
short nasal bridge
aplasia/hypoplasia of the quadriceps
widened phalanges
multiple small renal cortical cysts
pinched nose
ventricular fibrillation
grooved tongue
absent/hypoplastic metatarsals
long-sightedness
agenesis of six year molar
absent tragus
bilateral wrist flexion contracture
biceps aplasia
enhanced ristocetin cofactor assay activity
congenitally corrected transposition of the great arteries
abnormal cd4-positive, cd25-positive, alpha-beta regulatory t cell count
synostosis involving the 2nd metacarpal
fragmentation of the epiphyses of the phalanges of the hand
recurrent external ophthalmoplegia
blood coagulation disorder
benign uterine leiomyomas
calcium kidney stone
broad distal phalanx of the 4th toe
susceptibility to chickenpox
short outermost pinky finger bone
yellow-brown discoloration of the teeth
folate-dependent fragile site at xq28
reduced maximal inspiratory pressure
absent neck of thighbone
morphological abnormality of the horizontal semicircular canal
amniotic shelf
low blood glycine levels
supraauricular sinuses
inferior subluxated lens
neonatal breathing dysregulation
postural hypotension with compensatory tachycardia
lytic defects of the phalanges of the little finger
congenital hypotonia
absent/underdeveloped bones of 3rd toe
epididymitis
vertical shortening of face
neoplasia of the nervous system
aseptic epiphyseal necrosis
hypometric saccades
vulvar neoplasm
displacement of the thumb
enlarged metaphyses
absence of the maxilla
lop ear
mitochondrial myopathy
esophageal carcinoma
right and left cleft lip
alcohol-induced rhabdomyolysis
decreased activity of mitochondrial respiratory chain
neurohypophysis hypoplasia
increased horizontal length of eyebrow
symmetric great toe depigmentation
preauricular sinus
elevated 8-dehydrocholesterol
hyperextensible thumb
increased length of metacarpals
decreased size of lower eyelid
curved middle bone of 2nd toe
ventricular septal defect
abnormality of the lower limb
calcaneovalgus foot
irregular epiphysis of the distal phalanx of the hallux
delayed pubertal growth
triangular shaped 1st metacarpal
aplasia/hypoplasia of the scapulae
asymmetric philtral ridges
abnormality of the hypothalamus
incomplete ossification of palatine bone
abnormality of the posterior pituitary
large fontanel
triggered by immunization
absent nasal septal cartilage
abnormal shape of sperm
episodic difficulty breathing
complete duplication of the middle bone of the 2nd toe
abnormal p50/n95 ratio of pattern electroretinogram
thick paranasal tissue
limb-girdle muscular dystrophy
exaggerated acoustic startle response
abnormality of risorius muscle
difficulty with flow
abnormality of the anterior chamber
generalized elastolysis
abnormal innermost thumb bone
aplasia/hypoplasia of the distal phalanx of the 4th toe
esotropia
absent/hypoplastic distal phalanges
abnormal partial thromboplastin time
abnormal of morphology of nose
symphalangism of the proximal phalanx of the 3rd toe with the 3rd metatarsal
exophoria
erectile abnormalities
visceromegaly
abnormal shape of the back of the head
congenital earlobe sinuses
epilepsy
rounded middle phalanx of finger
red desaturation
increased calcium level in kidney
pigment gallstones
periorbital fullness
lens dislocation
narrow spinal canal
abnormality of the vestibulocochlear nerve
uneven skull shape
nystagmus-induced head nodding
insomnia
absent/small inner ear
thick fibula
increased breadth of nasal tip
absent middle bone of middle finger
ivory epiphysis of the distal phalanx of the 4th toe
intramuscular hematoma
ovarian cystic abnormality
patchy sclerosis of finger phalanx
absent phalangeal crease
narrow shoulders
decreased size of forehead
mitochondrial
primary biliary cirrhosis
bullet-shaped middle bone of middle finger
congenital sensorineural deafness
vivid hallucinations
failure of development of more than six teeth
short-trunk dwarfism identifiable during childhood
nasal malformation
tessier facial cleft
upper limb peromelia
telangiectases in sun-exposed and nonexposed skin
hyperkeratosis with erythema
pulmonic valve stenosis
oedema
disturbance of dental eruption
aplasia of the phalanges of the 4th toe
albinism, ocular
conical phalangeal epiphyses
abnormality of the haematopoietic system
ventriculoseptal defect
ulnar deviation of the hands
unibrow
smooth muscle antibody positivity
neonatal hemolytic anemia
large earlobe
broad jaw
aplasia of the proximal phalanx of the 5th toe
short 5th finger
low one-minute apgar score
bullet-shaped phalanges of the 5th toe
abnormality of the end part of the 1st long bone of foot
fused innermost bone of 2nd toe with the 2nd long bone of foot
bullet-shaped outermost bone of big toe
pulmonary valve stenosis
enlarged end part of the middle bone of the 4th toe
increased transverse dimension of philtrum
proximal fifth finger symphalangism
lumbar platyspondyly
curved distal toe phalanx
oral synechia
arthrogryposis multiplex
lymph node hypoplasia
increased volume of lip
aplasia/hypoplasia of the proximal phalanges of the hand
granular macular appearance
congenital talipes calcaneovalgus
agenesis of the halluces
bullet-shaped phalanges of the 4th finger
increased serum bile acid concentration during pregnancy
irregular patellae
complex febrile seizures
postaxial polydactyly of fingers
hypertensive retinopathy
large frontal sinus
thick lower jaw bone
absent/underdeveloped innermost 4th toe bone
lens subluxation
abnormality of cation homeostasis
jamais vu
prominent brow
aortic valve stenosis
absent epiphysis of the middle phalanx of the 4th toe
sydney crease
triangular epiphysis of the distal phalanx of the 2nd finger
decreased glucose tolerance
eeg: generalised low amplitude activity
hidradenitis suppurativa
eclabium of upper lip
abnormality of the innermost bone of 3rd toe
head stopped growing
functional abnormality of the bladder
3-4 toe syndactyly
distal humeral metaphyseal irregularity
hypotrophic bridge of nose
bracket metacarpal epiphyses
horizontal acetabular roofs
small adrenal glands
prominent heel bone
fractured hand bones
left ventricular systolic dysfunction
osteopenia
abnormal lung lobation
impaired memory b-cell generation
cerebral cortical neurodegeneration
ambiguous external genitalia
fusion of teeth
aplasia/hypoplasia of toe
short stature, severe disproportionate
hoarse voice due to vocal cord paresis
facial cleft
cortical thickening of the forearm bones
bilateral choanal atresia/stenosis
gustatory auras
hypoplastic iris stoma
delayed coalescence of bipartite calcanei
rosette-forming glioneuronal tumour
failure of development of stensen duct
anomaly of facial soft tissue
blood clot in vein
compulsive skin picking
tongue nodules
gingival overgrowth
abnormality of nose hair
radially deviated wrists
abnormality of the epiphyses of the phalanges of the hand
abnormality of pattern onset/offset vep
widely spaced milk teeth
degeneration of cerebellum
radial longitudinal deficiency
intrauterine growth retardation, severe
radial ray hypoplasia
abnormal urine phosphate concentration
encephalomalacia
abnormality of the periventricular white matter
chronic oral candidiasis
gout
ocular hypertelorism
abnormality of pancreas morphology
fused middle and innermost bones of 2nd toe
hyperhomocystinemia
ski jump nail
hyperpigmented spots
short middle bone of 4th toe
absence of permanent molar
tumor of the spinal cord
aqueduct of sylvius stenosis
calf muscle hypertrophy
limited wrist movement
gi haemorrhage
rigid dysarthria
large central loss of field of vision
poor temperature regulation
prenatal onset growth retardation
abnormalities of shaft of long bone of the hand
abnormality of the labia minora
impaired fsh and lh secretion
anteroposteriorly shortened larynx
nemaline rods
obsolete ectopic anterior pituitary
dysmetric eye saccades
hyperplasia of neck muscles
underdeveloped cochlea
bilateral elbow dislocations
extra fontanelle
puolmonary valve insufficiency
abnormality of the outermost 4th toe bone
congenital absence of gluteal muscles
renal tubular dysfunction
rib exostoses
migraine with aura
anteriorly concave vertebrae
absent/underdeveloped backbone
copper accumulation in brain
tilted lower jaw
increased bone density of end part of the innermost bone of the thumb
sclerosis of 5th finger phalanx
obsolete hypoplasia of choroid
abnormality of the end part of the long bone of pinky finger
anterior tibial bowing
argyrophilic inclusion bodies
abnormality of the trachea
abnormality of the aortic arch
absent/underdeveloped innermost 5th toe bone
orotic acid crystalluria
webbed 2nd-5th fingers
enlargement of the inner surface of the skull bones
trapezoidal distal femoral condyles
recurrent synchronous diaphragmatic flutter
ivory epiphysis of the proximal phalanx of the 5th finger
absent proximal phalanx of the 3rd toe
decreased visual acuity, progressive
partial duplication of the phalanges of the thumb
increased circulating free fatty acid level
decreased width of all teeth
bone marrow failure
increased appetite
absent external genitalia
scapuloperoneal atrophy
abnormality of eyeball size
broad shaft of long bone
bladder cancer
unregulated immune response
labial hypertrophy
autosomal recessive predisposition
contracture of the metatarsophalangeal joint of the 5th toe
abnormality of medullary pyramid morphology
kommerell diverticulum
nasal neoplasm
varus deformity of humeral neck
lacrimal duct aplasia
proximal interphalangeal joint synostoses
atrophy of one side of the face
dumbbell-shaped long bone
frontal bossing
anomalous splenoportal venous system
pituitary dwarfism
naris, enlarged
failure of development of nasal septal cartilage
depressed nasal dorsum
dendritic corneal epithelial ulcer
macular hole
hyperpigmented nevi
triangular epiphyses of the hallux
absent/underdeveloped 1st long bone of hand
narrow iliac wings
duplication of the middle pinky finger bone
hypoplastic/small proximal phalanx of the 2nd finger
partial duplication of the middle bone of the pinkie toe
color vision test abnormality
ocular inflammation
upper jaw retrusion
partial nodular transformation of liver
speckled calcifications in the end part of the 2nd toe bone
late-onset distal muscle weakness
absence of tears in the eyes
chapped lip
underdeveloped tragus
discoid lupus erythematosus
muscular hypertrophy
bracket epiphysis of the proximal phalanx of the 2nd finger
philtrum, deep
wide proximal femoral metaphysis
hernia of the abdominal wall
absence of twelve year molar
abnormal aldolase level
absent epiphyses of the 3rd toe
duplication of the outermost bone of the pinkie toe
ciliary body melanoma
fused toe bones
drumstick terminal phalanges
weak voice
recessed nasal ridge
severe conductive hearing impairment
abnormality of prothrombin
generalized keratosis follicularis
lower jaw hypoplasia
multicystic dysplastic kidney
involuntary jerking movements
triangular mouth
saddle nose deformity
aseptic necrosis
antinuclear antibodies
multiple epiphyseal dysplasia
echogenic bowel
increased jitter at single fibre electromyography
true anophthalmia
paroxysmal vertigo
overgrowth of neck muscles
esophageal spasms
premature breast development
altman type i sacrococcygeal teratoma
joint contracture of the hallux
iliac horns
widely spaced 1st-2nd toes
thickened skin over the neck
mental deficiency
aplasia of eyebrows
extra pinkie finger
midline defect of mandible
osteocartilaginous exostoses
supernumerary bones of the axial skeleton
neuronal/glioneuronal neoplasm of the central nervous system
absent big toe nail
receding mandible
choroiditis
intestinal hypoperistalsis
knee contracture
anterior horn cell loss
atonic seizures
delayed heel bone maturation
increased long bone fracture rate
emesis
abnormality of the nervous system
lung tumor
pursed lips
drooping upper eyelid
high blood eosinophil count
macular hyperpigmentation
abnormality of buccinator muscle
focal and segmental glomerulosclerosis
oligodontia of primary teeth
hyperplastic labia majora
lymph node hyperplasia
lacunar retinal depigmentation
neurofibromas
fava bean-induced hemolytic anemia
imperforate nasolacrimal ducts
abnormality of the musculature of the limbs
somnambulism
decreased size of palpebral fissure
hypoplasia of the nasal bone
partial duplication of the middle phalanx of the 5th toe
multiple cutaneous leiomyomas
complete duplication of the middle phalanx of the fourth toe
aplasia of the glenoid fossa
increased mobility of joints
sphincter of oddi dyskinesia
contractures of the elbows
ulnar deviation of finger
absent/small long bones of hand
rib fusion
morphological abnormality of the saccule
wide ribs
triggered by emotion
leg muscle stiffness
absent pyramidal tract
short stature, disproportionate short-limb
anterior fontanelle open in adults
generalized morning stiffness
curved middle phalanges of the hand
visual auras
pinhole visual acuity 1.0 logmar
pulmonary artery atresia
fatigable weakness of neck muscles
small epiphysis of the proximal phalanx of the hallux
abnormal skin appendage
crepitations
caudate atrophy
angular cheilitis
reduced c-peptide level
aplasia/hypoplasia of the distal phalanx of the 3rd finger
narrow naris
hypoplastic superior crus of antihelix
cardiac amyloidosis
cervical lymphadenopathy
delayed maturation of the end part of the long bone in upper arm
periportal fibrosis
increased bone density in the middle bone of the 2nd toe
saddle shaped nasal dorsum
long foot
palmoplantar keratoderma, patchy
decreased fertility
narrow skull shape
peripheral axonal neuropathy
schistocytes
hyperchloremia
complete duplication of the phalanges of the 3rd finger
oral racial pigmentation
abnormality of cellular immune system
nasolacrimal duct stenosis
abnormality of cranial bone morphology
abnormal skeletal development
palm tree sign
cone-shaped end part of the outermost bone of the little toe
short metacarpals with rounded proximal ends
type 2 ventricular septal defect
vomiting
abnormality of oral mucosa
narrowing of interpediculate distances
missing permanent maxillary lateral incisor
lacrimal duct obstruction
asymmetry of the corneas
small corpus callosum
adrenal neoplasia
anomalous origin of left pulmonary artery from ascending aorta
helix, crus, serpiginous
lung edema
forearm undergrowth
pica
epidermal cyst
creatine metabolism abnormal
posterior displacement of the tongue
bipartite clavicle
abnormality of eye blood vessels
prolonged bleeding following circumcision
duplication of spinal cord
small outermost segments of shoulder blade
abnormal intermamillary distance
decreased length of philtrum
bullet-shaped index finger bones
gastrointestinal stromal tumors
small abnormally formed shoulder blade
diaphragmatic eventration
prominent sella turcica
slowly progressive
abnormality of shape of tooth
intermittent jaundice
postprandial hyperlactemia
osteolysis involving metatarsal bones
abnormal inflammatory response
multiple unerupted permanent teeth
port-wine stain
emg: myotonic runs
high blood histidine level
adenoma sebaceum
pits in posterior aspect of ear helices
wide outermost bone of the pinky toe
juvenile gastrointestinal polyposis
keratoconjunctivitis
mandibular cleft
pseudoepiphysis of the thumb
short tibiae
binasal hemianopia
anasarca
abnormality of olfaction
obsolete lacunar retinal depigmentation
wide 2nd toe
obsolete cone-shaped epiphysis of terminal phalanx of the middle finger
mirror image hand polydactyly
eczematoid dermatitis
obsolete biliary tract neoplasm
pseudocoarctation of the aorta
hypertrophy of cervical muscles
triangular shaped innermost pinkie finger bone
abnormal ossification involving bones of the feet
abnormal female reproductive system physiology
cone-shaped end part of the innermost bone of little finger
increased muscle lipid droplets
fibular duplication
congenital absence of muscles
abnormality of the dental pulp
double outlet right ventricle with subpulmonary ventricular septal defect and pulmonary stenosis
damaged optic nerve
peritonitis
hypoplastic/small proximal phalanx of the thumb
deformity of the nasal tip
uncoordinated eye movement
widened long bones
abnormality of cysteine metabolism
convex nasal bridge
fragmentation of end part of the middle long bone of the index finger
elongation of upper lip
flat foot
diabetes mellitus
abnormality of the auditory canal
displaced pinky finger
arrhinia
milk spot
loss in color vision
maternal autoimmune disease
refractory anemia
displacement of the external urethral orifice
nephrogenic rest
abnormality of artery of lower lip
urinary glycosaminoglycan excretion
transient nephrosis
high urine phosphate levels
ganglioneuroma
partial duplication of eyebrows
delayed social development
mitral valve stenosis
maxillary lateral incisor microdontia
chorea
aplasia/hypoplasia of the ovary
metatarsus adductus
diffuse hepatic steatosis
progressive spastic quadriparesis
incoordination
aplasia/hypoplasia of the ear
light hypersensitivity
progressive neurodegenerative disorder
dislocation of toes
macronodular cirrhosis
horizontal hypoplasia of face
cerebral white matter hypoplasia
partial complement factor h deficiency
abnormal morphology of the palpebral fissure
inclusion bodies in leukocytes
cochlear aplasia
gingival melanin pigmentation
emg: neuropathic changes
plasmacytoma
delayed mineralization of pubic bone
increased level of platelet-activating factor
congenital encephalopathy
noncompaction cardiomyopathy
short and narrow face
complete duplication of the outermost bone of the 3rd toe
irregular septal thickening
canted mouth
dislocated hip since birth
wide outermost bone of the pinkie toe
absent/underdeveloped tailbone
middle age onset
biconcave flattened vertebrae
patchy sclerosis of the phalanges of the 2nd finger
short fetal humerus length
atrophic corpus callosum
wide/broad thumb phalanges
cerebellar abnormalities
medullary cystic disease
rudimentary phalanges
'de toni-fanconi-debre' syndrome
broad distal phalanges
coxa valga
pyelonephritis
hole in roof of mouth
abnormality of the long bones of the toes
broad epiphyses of the upper limbs
abnormality of end part of the elbow bone
abnormal odontoid peg
fragmentation of end part of the outermost bone of pinkie finger
small end part of bone
speech impairment
complete duplication of the distal phalanx of the 2nd toe
abnormal shape of motor neuron
triangular shaped pinkie finger bones
irregular maturation of hand bones
hypoplastic/small phalanges of the 3rd toe
club-shaped proximal femur
fundus albipunctatus
cervical spondylosis
triangular shaped pinkie toe bone
symphalangism affecting the distal phalanx of the 4th toe
unerupted permanent teeth
parachute mitral valve
partial duplication of the middle bone of the 2nd toe
ductus arteriosus aneurysm
neonatal alloimmune thrombocytopenia
dyskinesia
absent/small long bone in upper arm
increased rate of premature chromosome condensation
malaligned teeth
enlarged end part of the outermost bone of the pinky toe
husky voice
asternia
recurrent shedding of toenails and fingernails
broad distal phalanx of the 5th finger
gelasin of chin
enlarged peripheral nerve
'molar tooth' sign on imaging
biliary atresia, extrahepatic
complete duplication of the innermost little finger bone
vascular abnormalities
fragmentation of the end part of the little toe bone
ingrown eyelashes
single central incisor
increased ossification of lower jaw
short femoral neck
vein of servelle
retinal exudates
hypercarbia
exudative retinal detachment
partial duplication of the innermost 2nd toe bone
hypoplasia of the intermaxillary bone
severe postnatal growth retardation
bleeding within the skull
oligodontia
cryptotia
absent biceps
bracket epiphysis of the distal phalanx of the hallux
ubiquitin-positive cerebral inclusion bodies
humeral cortical thickening
zonule of zinn abnormality
submucous cleft soft palate
milphosis
cardiovascular malformations
calcification of the small brain vessels
anomaly of the cheeks
increased bone density in innermost pinky finger bone
frequent (79-30%)
coronal craniosynostosis
x-linked
abnormal carpal bones
hypoplastic metatarsals
cone-shaped end part of the middle bone of the little toe
decreased hdl cholesterol
posterior cortical cataract
diastasis of the central incisors
neoplasm of the penis
absent/underdeveloped middle bone of pinkie finger
large iliac wings
abnormality of uvular muscle
broad proximal phalanx of the big toe
short digit
round retinal heme
unilateral nanophthalmos
oral ulcer
abnormality of the inferior labial artery
fear of open spaces
pseudoepiphysis of the middle phalanx of the 2nd toe
complete duplication of the middle pinkie finger bone
pseudoepiphysis of the distal phalanx of the 2nd toe
short legs
aplasia of the vestibular nerve.
hepatic arteriovenous malformation
spastic paraplegia
complete duplication of the phalanges of the hallux
anterior megalophthalmos
low-hanging columella
pili torti
abnormal fundus autofluorescence imaging
hyperechogenic kidneys
amyotrophy involving the extremities
esophageal stenosis
aplasia of metacarpal bones
squamous cell carcinoma of the tongue
abnormality of the fascia
abnormality of the dorsum of nose
abnormal presence of ultra-large von willebrand factor multimers
posterior rib fusion
abnormality of femoral epiphysis
triangular facial shape
fragmentation of the end part of the innermost bone of the 2nd toe
low blood calcium levels
raynaud's phenomenon
developmental delay, global
hypoplasia of the crus of the ear
congenital lactic acidosis
tarsal bone fusion
irregular pupil
increased bone mineral density
spina bifida occulta at s1
recurrent enteroviral infections
failure of development of permanent mandibular lateral incisor
anterior chamber synechiae
broad phalanges
exudative vitreoretinopathy
maxillary deficiency
crossed asymmetry of flash visual evoked potentials
peritoneal mesothelioma
cystic hygroma of the neck
curved phalanges of the hallux
stippling of thumb epiphysis
eeg with persistent abnormal rhythmic activity
cortical adrenal neoplasia
male precocious puberty
genu recurvatum
absent muscle fiber emerin
neurohypophysis agenesis
lymphangioma
abnormality of blood vessels
abnormality of upper limb metaphysis
abnormality of the brow of the face
hypotrichosis
slender innermost bone of finger
duplication of eyebrow
blue outer white part of eyeball
platelet abnormalities
abnormality of the tarsal bones
crouzon syndrome
t2 hypointense brainstem
oval vertebral bodies
tongue pain
focal
contracture of the outermost hinge joint of the 3rd finger
neonatal epiphyseal stippling
thyroid disease
large intestine tumor
macular hyperpigmented dermopathy
neonatal pneumothorax
abnormality of eyeball position
adrenal carcinoma
duplication of the innermost pinkie finger bone
crooked mouth
complete congenital stationary night blindness
increased pivka-ii
neoplasm of the adrenal cortex
absent patella
merkel cell cancer of the skin
complete duplication of the distal phalanx of the 4th finger
altitudinal visual field defect
hypertrophy of the facial bones
incomplete partition of the cochlea type ii
distorted craniofacial posture
forgetfullness
abnormality of the epiphyses of the feet
urinary hesitancy
conjunctivitis, recurrent
y-shaped long bone of hand
pointed mandibular incisor
absent ulna
bullet-shaped middle bone of the 4th toe
crescentic glomerulonephritis
bilateral nerve deafness
decreased blood lymphocyte number
excluded (0%)
progressive psychomotor deterioration
increased vertical height of eyebrow
complete duplication of the middle phalanx of the third toe
bilateral choanal atresia
hypoplasia of the tooth germ
hyperplastic inferior crus of antihelix
anti-multiple nuclear dots antibody positivity
punctate palmar hyperkeratosis
osteolytic defects of the phalanges of the 2nd toe
underdeveloped nasal alae
broad outermost bone of the toe
vegetative auras
abnormality of the epiphysis of the middle phalanx of the 3rd finger
increased bone density in the innermost bone of the big toe
hypoplastic anterior commissure
hypoplasia of zygomaticomaxillary complex
barret syndrome
hypotrophy of the zygomatic bone
breech presentation at birth
abnormality of the vestibular window
fragmentation of the epiphysis of the middle phalanx of the 3rd toe
constricted pupils
general absence of subcutaneous fat
high-arched eyebrows
facial abnormality
myelodysplasia with sideroblastosis
hyperplasia of sella turcica
increased hemoglobin
partial/complete duplication of the proximal phalanx of the 2nd toe
abnormal iris vasculature
episodic ataxia
short fifth toe
spotty hypopigmentation
abnormality of binocular vision
dry mouth
abnormality of cell physiology
mild receptive language delay
parathyroid agenesis
pheochromocytomas, adrenal
dropping of one upper eyelid
sclerosis of bones of the feet
spinal meningioma
eyelid myoclonia
increased vertical thickness of eyebrow
absent bones of the extremities
bronchiolitis obliterans organizing pneumonia
partial atrioventricular canal defect
absent bone maturation in sternum
low body weight
sudden loss of visual acuity
rib segmentation abnormalities
muscle weakness, lower limb, distal
cone-shaped epiphysis of the distal phalanx of the 2nd finger
curvature of spine
carotid artery aneurysm
loss of truncal adipose tissue
chronic obstructive pulmonary disease
liver calcifications
triangular epiphyses of the 5th finger
obsolete central tapetoretinal dystrophy
cervical endometriosis
medially deviated halluces
tooth enamel pits
acid-labile subunit deficiency
lacrimal puncta aplasia
agenesis of cartilage of nose
abnormal position of the lacrimal punctum
exercise-induced myalgia
short sacroiliac notch
craniosynostosis, sagittal
varicose veins
macrotia
aplasia cutis congenita over posterior parietal area
cone-shaped epiphysis of the middle phalanx of the 2nd toe
wide innermost bone of 3rd toe
stereotypical motor behaviors
patellar dislocation
philtrum, smooth
absent innermost bone of big toe
increased csf interferon alpha
dilatation of the renal pelvis
persistent anterior fontanelle
loss of speech
abnormality of mucous membrane of nose
obsolete duplication of terminal index finger phalanx
protruding ear
persistence of hemoglobin f
subarterial ventricular septal defect
abnormality of the hair shaft
benign prostatic hyperplasia
bronchial disease
crescent/chevron-shaped pulp chambers
giant platelets
inflammation of testicles
absent/underdeveloped optic nerve
pigmented micronodular adrenocortical disease
curved proximal phalanx of the 2nd finger
delayed bone maturation of end part of digital bone
undetectable light- and dark-adapted electroretinogram
short fibula
abnormality of the hemidiaphragms
overgrowth
broad, arched eyebrows
broad great toe
absent retina
rudimentary to absent fibulae
abnormal maturation of long bone in upper arm
fused outermost bone of the 4th toe
infantile hypotonia
increased bone density in the outermost bone of the index finger
primary hyperparathyroidism
spider veins of the lip
lumbar spinal canal stenosis
large artery calcification
salivary gland neoplasm
obesity
narrow, bell-shaped thorax
extradural hematoma
fragmentation of the end part of the innermost hand bones
excess skin over the neck
stiff wrist
symphalangism affecting the proximal phalanx of the 4th finger
quadriparesis
double calcaneal ossification center
abnormality of the aortic valve
decreased serum testosterone levels
cone-shaped epiphysis of the distal phalanx of the thumb
broad fingertips
sinusitis, recurrent
aphallia
hypoplasia of the primary teeth
hypotrophic facial musculature
spinal muscle wasting
caudal interpedicular narrowing
vertical linear mixed lucent and sclerotic pattern of metaphyses
notched outermost bone of thumb
aplasia of the 5th finger
menstrual irregularities
mitochondrial malic enzyme reduced
mental disorientation
fused capitate and hamate
multiple adenomatous colon polyps
abnormality of geniohyoid muscle
fusion of the innermost bone of the thumb with the 1st long bone of hand
multiple joint dislocation
triggered by febrile illness
clinodactyly of the 2nd finger
high urine neutrophil count
popliteal pterygium
increased red cell osmotic fragility
abnormality of the common tendinous ring
muscular weakness
abnormalities of the diaphyses of the hand
proximal neurogenic muscle weakness
mitral valve insufficiency
flattened radial head
brain atrophy
altman type iv sacrococcygeal teratoma
contractures, lower limbs
intrapulmonary sequestration
missing middle part of collarbone
overgrowth of innermost part of calf bone
cerebral saccular aneurysm
absent pinkie toe bones
aplasia/hypoplasia affecting the fundus
abnormal platelet shape
narrow palatine uvula
deformity of the periauricular region
increased blood lactate
clubbing (hands)
ewing sarcoma
bifurcated tongue
absent 5th metacarpal
wide toe
cone dystrophy
skin hyperextensibility
absent shinbone
atrioventricular septal defect, partial
excessive wrinkling of palmar skin
periventricular gray matter heterotopia
increased width of menton region
benign eye tumor
anomaly of tooth eruption
blackhead
jaw swelling
muscle weakness in lower limbs
hypoplastic/aplastic distal phalanges
underdeveloped crus of the ear
fecal urgency
abnormal blood coagulation studies
deep laugh lines
duplicated collecting system
depleted blood volume
pulmonary artery hypertension
menstrual irregularity
enlarged end part of the middle bone of the little toe
pigmented naevi
dislocations of the elbows
high urine cystathionine levels
absence of lower front tooth
recurrent sinusitis
intestinal polyposis
arnold chiari type i malformation
low blood neutrophil count
cyclopia
enlarged fourth ventricle
small pec muscle on one side
complete duplication of the distal phalanx of the 3rd toe
anotia
thin proximal phalanges with broad epiphyses
robin sequence
numerous congenital melanocytic nevi
hypoplasia of mandible
prosopagnosia
spontaneous pneumothorax
bracket epiphyses of the toes
short proximal phalanx of the 2nd toe
bullet-shaped distal phalanges of the hand
spock ear
pubertal developmental failure in females
abnormal rem sleep
fused innermost bone of pinky toe
increased size of the primary palate bone
small nose
absence of pain sensation
frequency
gastrointestinal infarctions
tumor of the lip
absent end part of the long bone of hand
unicuspid aortic valve
macroorchidism
enlarged nares
bowed long bones
diffuse cerebral calcification
tooth mass arch size discrepancy
congenital abnormal hair pattern
lipopigment in extraneuronal cells
radially deviated phalanges
missing eye tooth
short 3rd toe bone
total absence von willebrand factor multimers
toe clinodactyly
pigmentary retinopathy
multiple cutaneous malignancies
prominent eye folds
anterior plagiocephaly
generalized erythroderma
necrotizing myopathy
hypoplastic/small index finger
absent/underdeveloped bones of 2nd toe
hypoplastic coccygeal vertebrae
abnormality of terminal thumb epiphysis
absent mesencephalon
alopecia
cupid bow upper lip
palpebral edema
shallow orbits
angioblastoma of nakagawa
eeg abnormality
velopharyngeal dysfunction
extension of eyebrows towards upper eyelid
speckled calcifications in end part of innermost long bone of the middle finger
complete duplication of middle finger bones
abnormal limb muscles
west syndrome
abnormality of cartilage of nasal septum
involuntary facial muscle spasms
retinal infarction
decreased horizontal dimension of philtrum
epiphyseal stippling of the humerus
4th finger camptodactyly
aplastic optic nerve
fused outermost bone of big toe
chronic nasal inflammation due to narrow nasal airway
no social interaction
congenital joint contractures
abnormal dentition
spastic paraplegia, lower limb
megalodactyly
limited jaw opening
short, cube shaped long bone of hand
abnormality of the skin
migraine headaches
triangular end part of the middle bone of the 3rd toe
abnormality of lower lip
adie pupil
melanocytic nevi
sensorineural hearing impairment
abnormality of the intermaxillary bone
abnormality of the pectoral muscle
thick anterior alveolar ridges
scrotum-like labia majora
relatively large head
neoplasm of the ovary
streak ovary
abnormality of the bony eye socket
broad bones of the pinky toe
failure of development of secondary teeth
intertemporal widening
hypoplastic/absent thumb
stippling of the epiphyses of the toes
large end part of bone
abnormal nervous system electrophysiology
bridged palm line
abnormality of the sclera
broad middle bones of the toes
fifth metacarpal with ulnar notch
ulnar deviation of hands
breast fibroadenomas
dyscalculia
aplasia/hypoplasia involving the pelvis
corneal scarring
red hair color
streak increase in bone density in wide portion of wide bone
geographic tongue
short stature, severe
pulmonary artery aneurysm
phenotypic abnormality
proximal/middle symphalangism of the 2nd finger
heartburn
decreased blink reflex
parkinsonian disease
foot extensor weakness
decreased knee jerk reflex
enlarged end part of the pinky toe bone
cerebral venous angioma
male pseudohermaphroditism
duplication of the middle phalanx of the 2nd toe
retinal holes
meningocele
malformation of the nasolabial region
absent eyebrow
ridged fingernail
leukodystrophy
limited neck movement
persistant truncus arteriosus
abnormality of the nasolabial region
pancreatic adenocarcinoma
nocturnal hypopnea
small upper jaw bones
small hallux
nevus
vertical forehead creases
elongated clavicles
thoracic dysplasia
abnormal amplitude of pattern onset/offset visual evoked potentials
low-molecular-weight proteinuria
fusiform descending thoracic aortic aneurysm
recurrent thrombophlebitis
ataxia
limited elbow movement
mirror image dupliction of fingers
hyperplasia of facial muscles
erythroid hyperplasia
single-twin demise
abnormality of the uvea
conical maxillary lateral incisors
moderately reduced ejection fraction
lumbar lordosis
problems speaking
reduced number of intrahepatic bile ducts
deformational posterior plagiocephaly
pretragal ectopia
abnormality of the retina
slender build
testicular gonadoblastoma
abnormality of the forehead sinus
noise sensitivity
irregular lacy iliac crest
arterial disease of legs
peripheral schwannoma
absent radius
underdeveloped fifth fingernail
subconjunctival haemorrhage
abnormal social behaviour
dermatographic urticaria
hernias
foveal photoreceptor outer segment loss on macular oct
aplasia/hypoplasia of the proximal phalanx of the 3rd finger
irregular epiphysis of the proximal phalanx of the 4th toe
large calvaria
missing deciduous maxillary lateral incisor
spondylolisthesis at l5-s1
episodic respiratory distress
abnormality of the musculature of the thorax
t-wave inversion in the right precordial leads
intracranial pressure elevation
wide end part of long bone in upper arm
abnormal monocyte count
pulmonary infiltrates
synostosis of tarsal bones
narrow joint spaces of the elbow
dysmetric eye movements
central sleep apnea
aplasia/hypoplasia of the hallux
anterior sacral meningocele
impaired histidine renal tubular absorption
best corrected visual acuity 0.9 logmar
abnormally shaped heart
increased intraabdominal fat
aplasia of the thymus
increased size of the clitoris
cortical dysplasia
hyperelastic face skin
elbow pain
sclerosis of distal finger phalanx
small epiphysis of the proximal phalanx of the 2nd finger
abnormal morphology of ulna
vitamin b12 deficiency
angular cheilosis
violent behavior
thin lower lip vermilion
postaxial polydactyly type a
hypoplastic/small proximal phalanx of the 3rd toe
decreased size of septum of nose
unilateral polymicrogyria
hepatic abscess
genitourinary tract tumors
abnormality of the outermost bone of the 2nd toe
wide radial metaphysis
abnormality of shape of adult molar
underdeveloped inner lips
skin cyst
abnormality of the extrinsic pathway
recurrent burkholderia cepacia infections
symphalangism of middle phalanx of 5th finger
infantile onset
round epiphyses of the upper limbs
head and neck cancer
epistaxis
aplasia/hypoplasia of middle phalanges
abnormal nasal morphology
low esr
atrophy of dorsum of tongue
setting-sun eye phenomenon
multicentric ossification of proximal femoral epiphyses
abnormal pancreas size
pectus deformity
eeg with periodic abnormalities
abnormal urine sodium concentration
retinal pigment epithelium irregularity
abnormality of enteric ganglion morphology
partial syndactyly
absent palatine bone ossification
spontaneous tooth fracture
hydrops
calcific mitral stenosis
short thumbs with bulbous tips
enlarged end part of the innermost bone of the little toe
aplasia/hypoplasia of the distal phalanges of the hand
lack of insight
upper eyelid coloboma
increased serum interleukin-6
contracture of the metatarsophalangeal joint of the 3rd toe
masklike facies
restricted neck movement due to contractures
widened sacrosciatic notch
agenesis of permanent teeth
wide-based gait
increased creatine phosphokinase
irregular end part of the innermost bone of the 4th toe
abnormality of eye tooth
short nail
broad halluces
hairline peak
retractile testis
cranial nerve paralysis
small condylar head of mandible
abnormal maturation of thigh bone head and neck
morphological abnormality of the vestibule of the inner ear
asymmetry of oral cavity
absent forearm
white matter agenesis
caudal narrowing of interpedicular distances
broad cranium
split thighbone
abnormality of limb bone
neonatal death
decreased methylmalonyl-coa mutase activity
multiple enchondromatosis
abnormally folded helix
intermittent hyperpnea at rest
abnormal pulse pressure
aplasia/hypoplasia of the phalanges of the toes
extra oral frenum
abnormality of orotic acid metabolism
males with female external genitalia
zygomatic bone excess
abnormality of the small joints of the hand
immotile cilia
pseudohypoaldosteronism
csf polymorphonuclear pleocytosis
coronary arterial dilation
decreased size of frontal region of face
neurogenic muscular atrophy
underdeveloped small intestine
absent facial hair
fifth metacarpal hypoplasia
dilatation of the bladder
microscopic hematuria
cardiac murmur
macular crystals
foveal hypopigmentation
umbilical cord knot
absent/underdeveloped long bone of foot
mania
osgood schlatter disease
thickened cortex of bones
undescended testes
triangular shaped outermost bone of the little toe
acute tubulointerstitial nephritis
lingual abnormality
abnormality of the shape of skull bones
cerebellar agenesis
metatarsal diaphyseal endosteal sclerosis
absent ossification of the humeral epiphyses
femoral bowing
osteoporotic humerus
fusion of carpal bones
increased memory b cell count
absent innermost bone of pinky finger
dermatomal
abnormality of color of front teeth
projectile vomiting
s-shaped palpebral fissures
abnormality of orbicularis oris muscle
brain copper accumulation
cafe-au-lait macule
shovel-shaped upper front teeth
erythroid hypoplasia
increased bone density in skeletal bones
increased gamma globulin
partial tonic seizures
multiple prenatal fractures
glomerulomegaly
big head
decreased transverse dimension of palate
intestinal malabsorption
hardened spots within wrist bones
cuboid-shaped vertebral bodies
impaired thrombocytes adhesion
limb weakness
absent/underdeveloped hand bones
congenital nephrosis
communicating hydrocephalus
partial to complete agenesis of corpus callosum
absence of deciduous maxillary central incisor
sparse eyelashes
elevated thyroid stimulating hormone levels
mild expressive language delay
partial duplication of the middle phalanx of the 2nd toe
proximal renal tubular acidosis
failure of development of secondary molar
failure to exfoliate deciduous teeth
abnormality of upper limb joint
anomaly of the anterior horn cells
wide end part of upper limb bones
displacement of the hallux
increased serum gamma globulin
abnormal leukocyte count
aplasia/hypoplasia of the bladder
aplasia/hypoplasia of the 2nd toe
abnormality of the celiac artery
symphalangism of the distal and middle phalanges of the 2nd finger
multiple trichilemmomas
hypoplastic brainstem
mesangial abnormality
abnormal cartilage matrix
notch of alveolar ridge
mini ear
abnormality of mesenteric lymph nodes
anterior clefting of vertebral bodies
impotence due to autonomic dysfunction
increased plasma renin activity
abnormality of mandible coronoid process
abnormality of skull bone formation
wide nasal ridge
pectus excavatum
unilateral vestibular schwannoma
cleft of the face
abnormal nerve conduction
anterior pituitary agenesis
prominent nasal bridge
eyelid myoclonias
microfacies
choroidal nevus
lowset ears
narrow nasal base
decreased size of tongue
abnormality of the epiphyses of the 3rd finger
bending of the arm
shortened outer dynein arms
poikilocytosis
internally rotated shoulders
decreased levels of acid labile subunit
aggravated by activity
bullet-shaped proximal phalanx of the 2nd toe
irregular end part of the innermost bone of the big toe
cone-shaped end part of middle finger bone
diffuse villous hypertrophy of choroid plexus
stuttering
defect in alveolar ridge
abnormally small tongue
lacticacidosis
cervical vertebral facet hypoplasia
hyperisoleucinemia
broad middle phalanx of finger
explosive speech
fallen arches
partial duplication of the first metacarpal
recurrent aspiration pneumonia
pituitary gonadotropin deficiency
aplasia of the distal phalanx of the 5th toe
abnormality of intrinsic muscle of tongue
osteomatosis
abnormality of frontalis muscle belly
compensated hemolytic anemia
abnormality of the optic disc
leber optic degeneration
short proximal phalanx of halluces
parathyroid cancer
patellar aplasia
metaphyseal dysplasia
developmental stagnation at onset of seizures
partial aniridia
abnormality of thalamus morphology
hip osteoarthritis
short-limb dwarfism
sparse scalp hair
premature adrenarche
lack of facial expression
abnormal tarsal ossification
facial papilloma
abnormality of alignment of incisors
acute hepatic steatosis
malformed ossicles
absent lunula
aplasia/hypoplasia of the distal phalanx of the thumb
obsolete expanded phalanges of the ring finger
autoimmune thrombocytopenia
neoplasia of the lip
abnormality of the tibial metaphysis
cranial nerve vii palsy
abnormality of the ventricular septum
postnatal-onset ichthyosiform erythroderma
congenital absence of uvula
mengioma
iris hamartomas
aplasia/hypoplasia of the middle phalanx of the 3rd toe
macrodactyly
squamous cell carcinoma
palatal spider veins
striae distensae
classic lissencephaly
ivory epiphyses of the 3rd finger
lateral marginal vein of servelle
abnormality of branched chain family amino acid metabolism
abnormality of the hips
fibrocystic lung disease
abnormality of the testis size
limited neck flexibility
dystonia tremor
heavy proteinuria
automatic atrial tachycardia
muscular spasticity
philtrum with central raphe
floating kidney
asymmetry of nasal tip
circumungual hyperkeratosis
thyrotoxicosis with toxic multinodular goitre
broad phalanges of the 5th toe
glucocorticoid insufficiency
triangular shaped innermost little finger bone
opsoclonus
ptosis, congenital bilateral
abnormality of the trapezoid bone
demyelinating motor neuropathy
anteriorly displaced anus
rectus superior atrophy
slowly progressive spastic quadriparesis
unerupted adult dentition
hypoplasia of tongue frenum
gracile long bones
contractures of the proximal interphalangeal joints of the fingers
partial/complete duplication of the distal phalanx of the 5th finger
sensorimotor peripheral neuropathy
migraine without aura
short foot phalanges
pick inclusion bodies
scarring of kidney arteries
chin with vertical crease
scanty lower eyelashes
curved outermost bone of the 4th toe
contractures of the foot joints
absent spleen
menstrual abnormalities
triangular shaped innermost toe bones
hypertrophy of lower jaw
absent epiphyses of the toes
abnormality of the nasolacrimal system
mildly elevated creatine phosphokinase
abnormality of the posterior hairline
hypoplasia of the supraorbital ridges
absent/underdeveloped thigh muscles
increased blood neutrophil counts
widened interpupillary distance
painful tongue
disproportionate short-limb short stature
curved middle bone of little finger
decreased number of small peripheral myelinated nerve fibers
fused innermost and middle pinky toe bones
symphalangism of the ring finger
multiple plantar creases
uterine neoplasm
symphalangism of the thumb
glycinuria
dentinogenesis imperfecta of both sets of teeth
pulmonic valve myxoma
cutaneous leiomyosarcoma
double outlet right ventricle with subaortic ventricular septal defect and pulmonary stenosis
carotid sinus syncope
colorectal polyps
spasticity of pharyngeal muscles
abnormality of branchial arch
senile druse
short 2nd long bone of foot
noninsulin-dependent diabetes
obsolete low gonadotropins (secondary hypogonadism)
abnormality of the proximal phalanx of the 4th toe
high blood sodium levels
wide rib cage
congenital contractures
enthesis abnormality
abnormality of cytokine secretion
self mutilation
cleft eyelid
stillborn
tibial torsion
aplasia of the palmar creases
mastocytosis
motor axonal neuropathy
increased volume of lower lip vermilion
renal transitional cell carcinoma
thin ribs
hypoplastic phalanges of hands
recurrent episodes of acidosis
subglottic stenosis
elevated 7-dehydrocholesterol
sleep paralysis
humeral ulnar synostosis
spastic diplegia
absence of lower jaw bone
decreased lacrimation
absent mastoid
fusion involving bones of the toes
dysharmonic ossification of the hand bones
hypotrophic cheekbone
biparietal bossing
postnatal-onset ichthyosis
abnormal fucosylation of protein n-linked glycosylation
septate vagina
triangular nuclear cataract
abnormality of skull ossification
secondarily generalised tonic-clonic seizures
split-foot
increased chylomicrons
growth delay as children
partial or complete syndactyly 3rd-4th fingers
absent epiphysis of the middle phalanx of the 3rd toe
hyposerinemia
recurrent
joint contractures involving the joints of the feet
subchorionic septal cyst
increased arm span
gonadal dysgenesis, male
abnormality of the musculature of the upper arm
arachnoid hemangiomatosis
cerebellar hypoplasia/atrophy
increased ldl cholesterol
notching of the ear helix
dagger shaped pulp stones
decreased sensory nerve conduction velocities
increased mitochondrial number
absence of subcutaneous fat
hypoplastic epiglottis
hyperplasia of pituitary fossa
situs inversus visceralis
abnormality of the end part of the outermost bone of the 4th toe
diastasis recti
onychogryposis of fingernail
absent/small innermost index finger bone
apical muscular ventricular septal defect
glanzmann thrombasthenia
sclerosis of the phalanges of the 4th finger
unilateral primary pulmonary dysgenesis
abnormality of position of teeth
tympanic nerve tumor
neoplasm
malformation of facial soft tissue
thyroid papillary adenoma
asymmetry of tip of nose
cephalocele
delayed humeral epiphyseal ossification
shoulder weakness
elevated urine pyrophosphate
stippling of the epiphyses of the 4th finger
bilateral cystic dysplasia
astereognosia
decreased serum estrone
urinary tract abnormalities
anomaly of the forehead
astereognosis
decreased motor nerve conduction velocities
male-limited autosomal dominant
orange coloured tonsils
unaided visual acuity 1.1 logmar
vascular abnormalities restricted to skin
absent 5th long bone of foot
hypertrophic antihelix stem
corneal ulcerations
motor aphasia
heparin-induced thrombocytopenia
flexion contractures
partial duplication of phalanx of the 2nd toe
delayed bone maturation
joint dislocation
failure of development of maxillary premolar
right and left cleft palate
absence of primary maxillary central incisor
polymicrogyria, anterior to posterior gradient
triangular shaped phalanges of the 5th finger
narrow foot
subependymal cysts
abnormal size of corpus callosum
cardiomyopathy
hyperglobulinemia
neoplasm of the lip
delayed maturation/delayed ossification of the humeral epiphyses
knee stiffness
partial absence of the septum pellucidum
notched eyelid
aortic arch calcification
carotid artery occlusion
frequent fractures
insulin resistance
absent/hypoplastic toes
underdevelopment of condylar neck of mandible
obstruction in digestive tract
subcortical cerebral atrophy
deafness, unilateral
lingual prolapse
hypertelorism
narrow pelvis
hypotonia, neonatal
abnormal bones of 4th finger
short terminal thumb phalanx
increased serum creatine kinase
increased bone density in the middle bone of the index finger
dysplastic distal radial epiphyses
loss of voice
type 1 total anomalous pulmonary venous connection
costochondral joint sclerosis
chorioretinal degeneration
hyperplasia of midface
abnormality of the uvula
small flat posterior fossa
wide midline cleft lip/palate
hypoplasia of the tibia
underdevelopment of lower jaw
uric acid stones
fructose intolerance
genua vara
short skankbone
eeg with periodic lateralized epileptiform discharges
bone loss around tooth root
enlarged lateral ventricles
malformed auricles
elevated circulating pth level
uneven increase in bone density
6 metacarpals
hyperconvex fingernails
stye of eyelid
flattened forehead
absence of the pulmonary valve
deficiency of delayed skin hypersensitivity
aplasia/hypoplasia of the fifth metatarsal bone
webbed second, third and fourth toes
wrinkled skin
medially sloping radial epiphyses
decreased fat below the skin
broad distal phalanx of the 5th toe
decreased number of large peripheral myelinated nerve fibers
metacarpal cone-shaped epiphyses
patchy hypo- and hyper-pigmentation
slender long bones of hand
short philtrum
myoglobinuria, recurrent
bowed femur
medially fused radial epiphyseal plates
enlarged epiphysis of the middle phalanx of the 2nd toe
recurrent loss of toenails and fingernails
quincke edema
anterior cortical cataract
tubular fingernails
sclerosis of the distal phalanx of the 2nd finger
enlarged end part of the little finger bones
dyschromatopsia with red-green confusion
flat vertebral bodies
uneven face
aplasia of the semicircular canal
pericentral
inflammatory abnormality of the eye
decreased distal sensation
adductor longus contractures
angiokeratoma
decreased size of mandibular condyle
anterior scalloping of vertebral bodies
abnormality of terminal index finger phalanx
vasovagal syncope
abnormality of the epiphysis of the middle phalanx of the 5th toe
palate high-arched
abnormality of the nasal bone
abnormality of phalangeal joints of the hand
abnormality of the conjunctiva
small ears
ocular abnormalities
camptodactyly of 2nd-5th fingers
pulmonary hypoplasia
sinusitis, chronic
impaired pursuit initiation and maintenance
eye of the tiger anomaly of globus pallidus
bipolar affective disorder
decreased von willebrand factor activity
cone-shaped epiphysis of the middle phalanx of the 3rd finger
ductal carcinoma in situ
perisylvian polymicrogyria
enlarged ventricular system
intrauterine growth retardation, iugr
fifth finger single interphalangeal crease
otitis media, chronic
triangular epiphyses of the fingers
multiple fractures, present at birth
cervical subluxation
deficit in expressive language
paraspinal neurofibromas
decreased size of all teeth
bracket shaped end part of the outermost pinky finger bone
rapidly progressive
osteochondritis dissecans
reduced sagittal diameter of vertebrae
muscle pain with exercise
crystalline corneal dystrophy
fine motor skill dysfunction
atrioventricular nodal disease
autosomal dominant contiguous gene syndrome
bronchial neoplasm
partial duplication of the outermost bone of the 2nd toe
posterolateral diaphragmatic hernia
bracket epiphysis of the proximal phalanx of the 5th toe
wide femoral neck
ivory epiphyses of the thumb
small cervical vertebral bodies
perilobar nephroblastomatosis
abnormally small eyeball on both sides
absent/small ring finger bone
abnormal erythrocyte enzyme activity
elevated aldolase level
curved distal phalanx of the thumb
lack of cupid's bow
extra little finger
perinephritis
abnormality of the proximal femoral epiphysis
delayed developmental milestones
subhyaloid hemorrhage
hyaline bodies
absent 1st metatarsal
ulnar deviation of middle fingers
triangular epiphysis of the 1st metatarsal
abnormality of pyruvate family amino acid metabolism
sacrococcygeal pilonidal abnormality
hyperplasia of frontal sinus
osteolytic defects of the phalanges of the 2nd finger
irregular end part of the little finger bones
underdevelopment of condylar head of mandible
hypomagnesiuria
decreased size of facial muscles
hypercalcinuria
macular pucker
scleritis
deviation of the 4th toe
small thumbnail
flattened radial epiphyses
hemangioblastoma
laterally sloping metaphysis of long bone of upper arm
reduced igg2 levels
constricted radial neck
menorrhagia
cerebral germinoma
severe mental retardation
webbed index, middle and little finger
valgus position of the calcaneus
peripheral visual field constriction with <10 degrees central field preserved
folliculitis
pituitary gonadotropinoma
vaginal varicocele
high blood albumin levels
increased cerebral lipofuscin
cone-shaped epiphyses of the 5th toe
smooth lingual surface
uterine cervicitis
duplication of the outermost pinky finger bone
acute megakaryocytic leukemia
abnormality of adrenal morphology
humeral diaphyseal lysis
abnormality of carpal bone ossification
cellulitis due to immunodeficiency
duplication of phalanx of thumb
stippling of the epiphysis of the distal phalanx of the hallux
hypoplasic terminal phalanges
failure of development of permanent maxillary lateral incisor
stridor
onset in first year of life
absent tear gland
triangular shaped tip of nose
impaired vibration sensation at ankles
fragmentation of the end part of the pinkie finger bones
anal canal squamous carcinoma
nonsyndromal hydrocephalus
joint contractures, progressive
oral mucosa melanin pigmentation
full thickness defect of the eyelid
triangular epiphysis of the distal phalanx of the 4th toe
testicular azoospermia
abnormality of bone mineralization of calvarium
expressionless face
hyporeflective spaces on macular oct
premature tooth loss
triangular end part of the outermost bone of pinky finger
chondroblastoma
psychomotor regression, progressive
unequal nostril size
anomaly of the malar bones
increased bone density in the outermost bone of the middle finger
hypotrophic internal carotid artery
columella, broad
iris hypoplasia
aplasia/hypoplasia of the triceps
hypertrophy of paranasal tissue
cellulitis of eyelids
abnormal shape of end part of limb bones
ivory epiphyses of the toes
medulloepithelioma
partial duplication of the distal phalanx of the 4th toe
absent deferent duct
triangular shaped innermost finger bone
broad palm
abnormality of the nasal ridge
cone-shaped end part of the outermost bone of the 3rd toe
supernormal dark-adapted bright flash electroretinogram b-wave
onychauxis
abnormal amplitude of light-adapted single flash electroretinogram
periauricular pits
increased bone density of end part of the long bone of hands
hereditary elliptocytosis
osteolytic defects of the middle phalanx of the 4th finger
depletion of large myelinated fibers
small epiphyses of the hallux
progressive peripheral neuropathy
normal pressure hydrocephalus
thoracolumbar kyphoscoliosis
bull's eye maculopathy
extrahepatic portal hypertension
advanced tooth eruption
fusion involving digits
skin erosion
motor retardation
quadriceps aplasia
decreased tooth mass
transverse palmar crease
craniosyostosis
enlargement of facial skeleton
cortical thickening of humeral diaphysis
spontaneous, recurrent nosebleed
aplasia of the proximal phalanx of the thumb
short middle and distal phalanges of digits ii through v
decreased length of anterior nasal spine
bone fusion involving the shinbone
absence of the sacrum
increased bone density of end part of the outermost bone of the 3rd toe
acrocyanosis
absent foreskin
peripheral visual field constriction with 10-20 degrees central field preserved
very frequent
hand muscle atrophy
abnormality of hypothalamus morphology
atrial septal defect, primum type
unchanging facial expression
increased megakaryocyte count
delayed maturation fo pubic bone
eeg with temporal focal spikes
macronodular adrenal hyperplasia
anomaly of the mandible
glossal abnormality
prominent central ridge on roof of the mouth
abnormal pyramidal signs
fusion of joints
round humeral epiphyses
cheekbone rash
fasting hyperinsulinemia
broad radial diaphysis
uneven ears
auditory hallucinations
basal cell nevus
pericardial constriction
medial deviation of toes
partial duplication of the middle bone of the little toe
persistence of deciduous teeth
failure of development of lower eyelashes
large cafe-au-lait macules with irregular margins
low plasma renin activity
cortical irregularity
underdeveloped lung
cone-shaped end part of the outermost bone of the 4th toe
chorioretinal dystrophy
abnormal big toe bones
broad wide portion of shankbone
respiratory depression
conjunctival injection
motor neuron atrophy
abnormality of shaft of long bone of the upper limbs
abnormality of the epiphysis of the distal phalanx of the 3rd toe
irregular end plates
unopened tricuspid valve
scapula alata
low blood uric acid levels
isometric tremor
abnormal circulating oestrogen level
little lower jaw
small oral aperture
hyperplastic tragus
abnormality of greater palatine artery
thin scalp hair
transient unilateral blurring of vision
upper limb pain
lack of motivation
broad middle phalanges of finger
abnormal pigmentation of the oral mucosa
congenital hip dislocations
abnormality of the inner ear
shortening in proximal phalanges
absent/underdeveloped cerebral white matter
dacryocystocele
postaxial oligodactyly
multifactorial inheritance
supernumerary finger
abnormal thyroid function
enlarged polycystic kidneys
factor xii deficiency
partial absence of finger
spinal cord lesion
bullet-shaped outermost little finger bone
broad phalanges of the thumb
increased pulmonary capillary wedge pressure
high blood beta-alanine levels
inlet ventricular septal defect
absent kneecap
abnormality of the second metatarsal bone
pseudoepiphyses of the 3rd toe
increased tyrosine in blood
renal steatosis
sternal protrusion
neoplasm of the tongue
long second metacarpal
mirror hand movements
bullet-shaped middle finger bones
macrocephaly, relative
aplasia/hypoplasia of the phalanges of the 3rd toe
abnormality of the end part of the middle bone of the pinky toe
combined hyperlipidemia
prominent navel
commissural pit
abnormal lymphocyte counts
weak jaw
recurrent cutaneous pyogenic infections
deformity of radial heads
abdominal colic
corneolenticular adhesion
notched first long bone of hand
tapered fingers
dyslexia
partial duplication of the phalanges of the hallux
aplasia of the premaxilla
broad innermost bone of the little toe
congenital finger contractures
posterior helix pit
absent epiphysis of the middle phalanx of the 4th finger
bowing of the humerus
intercrural pterygium
small shallow orbits
thick vermilion border of upper lip
spontaneous fracture
abnormality of cranium
abnormality of circulating beta2 microglobulin level
abnormality of the costochondral junction
bifid humerus
palatal myoclonus
radial aplasia
gi hemorrhage
eventration of the diaphragm
clinodactyly of hallux
recurrent infantile hypoglycemia
chronic recurrent multifocal osteomyelitis
cervical ectopia cordis
progressive clavicular acroosteolysis
bullet-shaped middle phalanx of the 5th finger
secondary hypercorticolism
abnormality of metabolism/homeostasis
limited elbow flexion/extension
extensor plantar responses
complete duplication of the phalanges of the 5th finger
abnormal philtrum
pitting of tooth enamel
hypoplasia of the femoral head
obsolete advanced maturation/advanced ossification of terminal thumb phalanx epiphysis
villous hypertrophy of choroid plexus
absent/small pinkie finger
hypoceruloplasminemia
thick red part of the lower lip
enlargement of the ankles
abnormal elasticity of skin
nocturia
abnormal serum immunoglobulin levels
abnormality of vomer
liver inflammation
impacted teeth
bullet-shaped 1st metatarsal
high-tone sensorineural hearing impairment
cockleshell ear
edema
abnormality of the end part of the middle bone of the 3rd toe
proximal tibial hypopolasia
abnormal urine color
parathyroid hyperplasia
incomplete penetrance
voracious appetite
antiphospholipid antibody
increased bone density in innermost pinkie finger bone
bullet-shaped little finger bones
paroxysmal choreoathetosis
lower limb hypertonia
muscle cramps on exercise
heart tumor
abnormal cutaneous elastic fiber morphology
narrow external auditory canals
abnormal muscle tone
carpal bone aplasia
tight lingual frenulum
hyperextensibility of the finger joints
contracture of the distal interphalangeal joint of the 4th finger
preaxial polydactyly of foot
triangular shaped little toe bone
struvite kidney stones
absent distal phalanx of the 2nd toe
small end part of the innermost bone of the 3rd toe
slurred speech
stippling of the epiphyses of the 4th toe
diminished diaphragmatic motion
outward turned lower lip
mobitz ii atrioventricular block
increased bone density of end part of the outermost bone of the pinkie toe
hypochromic microcytic anemia
pelvic girdle muscle atrophy
lateral facial cleft
folate-responsive megaloblastic anemia
hepatitis
decreased elbow mobility
short-trunk dwarfism identifiable at birth
thyroid adenoma
abnormal shape of small intestinal villus
abnormality of sulfur-containing amino acids
abnormality of lateral crico-arytenoid
gait apraxia
increased aldosterone production
aneurysmal dilatation
flat, nasal bridge
central
lambdoidal craniosynostosis
abnormal erythrocyte sedimentation rate
absent thighbone
muscle weakness
absent/small toe
patchy palmoplantar keratoderma
limb dystonia
absent fovea
radial aplasia/hypoplasia
agenesis of cupid's bow
slow pupillary light response
overactive lower leg reflex
hyperglycemia
hypergranulosis
increased width of dorsum of nose
early tooth loss
muscle cramps with exertion
talipes
metaphyseal cupping
recurrent interdigital mycosis
breast cancer
permanent junctional reciprocating tachycardia
venous thrombosis
increased variability in muscle fiber diameter
venous malformations
abnormal belly button
aplasia of the eccrine sweat glands
limb abnormality
ivory epiphysis of the proximal phalanx of the 3rd toe
syndactyly toes 2-4
agenesis of maxillary incisor
tongue sticking out of mouth
failure to lose baby teeth
sialorrhea
nonprogressive restrictive external ophthalmoplegia
sparse/absent eyebrows
tip-toe gait
deep nasolabial crease
total colonic aganglionosis
bracket shaped end part of the outermost bone of the ring finger
premature graying
failure of development of maxillary bicuspid
abnormal glucose tolerance
maternal fever in pregnancy
eeg with series of focal spikes
lytic defects of carpal bones
optic disc pallor
quadriceps muscle atrophy
triangular shaped distal phalanx of the 2nd toe
abnormality of the capitate bone
amimia
short distal phalanges
elevated alkaline phosphatase, liver/bone/kidney
anterior open bite
abnormal morphology of the face
abnormality of tooth root
nevocellular nevi
underdeveloped stem of antihelix
asymmetry of lower jaw
weight loss
head circumference large for gestational age
triangular cranium shape
abnormal shape of posterior skull
cardiac murmurs
nevus of ota
increased ossification of the internal surface of the cranial bones
abnormal isoelectric focusing of serum transferring
decreased weight
low 5-minute apgar score
enlarged thumb epiphysis
enlarged epiphyses of the 2nd finger
hemisacrum
macular degeneration
abnormality of the shape of cranium
clinodactyly
abnormal fingerprints
increased creatine phosphokinase after exercise
retained deciduous teeth
sclerosis of 4th finger phalanx
patchy sclerosis of middle toe phalanx
aplasia of the ovaries
abnormal development of end part of bone
incomplete congenital stationary night blindness
reduced natural killer cell activity
prominent swayback
pseudoarthroses
muscle pain, exercise-induced
abnormality of the cerebral subcortex
abnormality of the countenance
reduced red cell pyruvate kinase activity
umbilical hernias
allergic rhinitis
obsolete abnormal form of the 5th finger
ivory epiphysis of the distal phalanx of the 3rd finger
abnormal finger flexion creases
throwing up
fishnet retinal pigmentation
atretic lacrimal punctum
elevated plasma aldosterone
arthrogryposis, congenital
hyporeflexia, lower limbs
congenital mesoblastic nephroma
abnormally small skull
polydactyly affecting the thumb
phalangeal sclerosis
dental enamel pits
dribbling
aplastic/hypoplastic middle phalanges
abnormality of the end part of the 1st long bone of hand
partial/complete duplication of the middle phalanx of the 3rd finger
digital flexor tenosynovitis
high intestinal obstruction
increased width of philtrum
abnormality of ocular abduction
abnormality of the bregma sutures
craniosynostosis, sagittal suture
focal t2 hyperintense brainstem lesion
excessive daytime sleepiness
abnormality of occipitofrontalis muscle
absent/small ear
spinal canal stenosis
metacarpal hypoplasia
hypoplasia of the femora
fused 4th-5th metacarpals
small male external genitalia
foot ectrodactyly
periauricular earpits
circulating immune complexes
irregular bone maturation of the wide portion of the long bone in upper arm
synostosis involving the carpal bones
lymphatic vessel tumor
green teeth
irregular vertebral endplates
hemiparesis
lingual atrophy
pseudoepiphysis of the proximal phalanx of the 2nd toe
crooked nasal ridge
carpal bone hypoplasia
kidney calcium wasting
shoulder muscle degeneration
reduced tensile strength of hair
wide digital bones
glial remnants posterior to lens
triangular end part of the innermost hand bones
hyperchloriduria
ectopic atrial tachycardia
abnormal electrocardiogram
liver agenesis
expanded terminal portion of crus of helix
type i cryptotia
abnormality of the hip bone
ovarian epithelial cancer
atria septal defect
proximal phalangeal periosteal thickening
malformation of the nasal tip
absence of second permanent molar
symphalangism of the distal and proximal phalanges of the thumb
relative short stature
underdeveloped vagina
sclerosis of toe phalanx
non-obstructive azoospermia
behavioral symptoms
abnormal ciliary motility
obsolete involuntary jerking movements
internal carotid artery hypoplasia
hypoplasia of condylar neck of mandible
hyperpigmentation of eyelids
axonal degeneration/regeneration
failure of eruption of multiple teeth
3-5 finger syndactyly
duplication of the middle phalanx of the fifth toe
hordeolum internum
long tract signs
enlarged epiphyses of the thumb
single ventricle
partial duplication of the middle bone of 3rd toe
tumor of fatty tissue
atrial septal defect, ostium secundum type
short ulna
atrophy of lingual surface
permanent atrial fibrillation
vertical vaginal septum
palate, high-arched
renal malrotation
missing permanent upper front tooth
hyperplasia of cheekbone
lack of facial fat below the skin
palmoplantar keratoses
osteochondrosis dissecans
corticotropin-releasing hormone receptor (crhr) resistance
acute pancreatic inflammation
enlarged fetal cisterna magna
large tragus
progressive polyneuropathy
choroid plexus calcification
abnormality of the pinky toe
involuntary muscle contractions
absence of permanent maxillary lateral incisor
prolactin-secreting pituitary adenoma
poor visual acuity
posterior fusion of lumbosacral vertebrae
hypotrophic paranasal sinus
synostosis involving bones of the upper limbs
phosphohexose isomerase deficiency
albinism
recurrent major bacterial infections
abnormality of toe
eeg with temporal focal spike waves
moderate hearing impairment
abnormality of musculus uvulae
myeloid/lymphoid leukemia
blood clot in cerebral vein
gingival abnormality
abnormal shape of metacarpal bones
sinus tach
absent/small cerebrum
genu varum
myelin outfoldings
reduced factor x activity
reduced brain creatine level by mrs
difficulty in lingual movements
abnormality of the proximal phalanges of the toes
head abnormality
asd
atrophy of alveolar margins
cerebral degeneration
mesiodentes
decreased length of face
hypopigmented skin patches on arms
chondritis of pinna
atrophic scars
severe visual impairment
abnormality of the radioulnar joints
head circumference small for gestational age
abnormal maturation of ankle bones
chronic pancreatitis
abnormal metatarsal ossification
clonus
multiple intestinal polyps
agenesis of the mandible
aseptic bone necrosis
aberrant melanosome maturation
ulnar hypoplasia
penoscrotal transposition
neck webbing
radial dysplasia
spinal cord compression
very rare (<4-1%)
nephrocalcinosis
short penis
crooked lower jaw
sinus bradycardia
meconium staining of amniotic fluid
abnormal urinary copper concentration
palate fistula
psychomotor delay
abnormality of corpus cavernosum
malformation of the columella
bullet-shaped 1st metacarpal
abnormal distribution of hair
molar shape of bicuspid
axonal loss
polyorchidism
angioid streaks, retina
abnormality of the floor of mouth
persistence of fingerpads
corticospinal tract hypoplasia
medium chain dicarboxylic aciduria
small capital femoral epiphyses
aplasia/hypoplasia involving the shoulder musculature
elevated dermal desmosine content
neurohypophyseal diabetes insipidus
membranoproliferative glomerulonephritis type ii
partial or complete agenesis of corpus callosum
delayed gross motor development
cone-shaped end part of the middle bone of the 2nd toe
partial knee cap dislocation
cutaneous amyloidosis
microretrognathia
aortic coarctation
deep white matter hyperintensities
abnormalities of the metaphyses of the hand
small cell lung carcinoma
factor xiii subunit a deficiency
decreased spontaneous movement
neonatal hypotonia
pointed frontal hairline
malformed lacrimal ducts
thoracolumbar scoliosis
abnormal spleen location
ciliary trichomegaly of upper eyelashes
respiratory complex iv deficiency
underdeveloped lung artery
eeg: localised slow activity
deglutition disorder
zonular cataract
underdevelopment of tooth germ
microcephaly, acquired
spasticity of facial muscles
wide toe bones
mitochondrial swelling
elevated palate
ichthyosiform abnormality of the skin
dextroposition of aorta
abnormality of unsaturated fatty acid metabolism
deficiency of lingual frenulum
triplomyelia
membranous glomerulonephritis
ear tumor
increased bone density in 1st long bone of hand
preaxial hallucal polydactyly
gonadotropin excess
absent epiphysis of the distal phalanx of the 2nd finger
liver arteriovenous malformation
periungual fibroma
lewy body disease
increased urinary taurine
increased size of parotid gland
impaired neutrophil killing of staphylococci
hammock mitral valve
telangiectases of soles
mizuo-nakamura phenomenon
abnormal color of the oral mucosa
premature tooth eruption
chromosomal breakage induced by diepoxybutane
decreased visual acuity
paracentral scotoma
cupped metaphyses of the upper limbs
scant eyelashes
abnormality of the shoulder blade
small and flat posterior skull bones
graves dermopathy
absence of deciduous mandibular central incisor
eeg with focal epileptiform discharges
abnormality of the calvaria
flattening of skull
absent epiphysis of the proximal phalanx of the hallux
hypohidrosis
preauricular pit
increased carotid artery intimal medial thickness
multiple intestinal neurofibromatosis
grand mal seizures
abnormality of depressor labii inferioris
craniosynostosis of coronal suture
increased urinary sialyloligosaccharides
bilateral radial aplasia
aplasia/hypoplasia of the 4th metacarpal
primary gastric lymphoma
absent/underdeveloped middle bone of little finger
extra scrotum
widened posterior fossa
stomach tumor
symphalangism affecting the phalanges of the hand
respiratory complex deficiency, atpase deficiency
stiff joints
hypoinsulinemia
distal upper limb amyotrophy
absent stensen duct
clavicular hypoplasia
chronic kidney disease
abnormal immunoglobulin concentration
aplasia/hypoplasia of fingers
restricted chest movement
hyperplasia of the femoral trochanters
sclerosis of 3rd toe phalanx
retinal detachment
absent middle bone of 4th toe
poorly defined conchae
abnormality of cranial ganglion
telangiectasia of nasal mucous membrane
camptodactyly of proximal interphalangeal joint
kidney damage
absence of lower premolar
hepatic periportal necrosis
abnormality of the outermost bone of the 3rd toe
torus palatinus
small opening between the eyelids
abnormal amplitude of light-adapted flicker electroretinogram
xanthoma of periocular region
hypoplastic lobules
focal autonomic seizures
absent/small outermost bone of little finger
tics
elevated luteinizing hormone
curved distal phalanges of the toes
ectodermal dysplasia
temporomandibular joint fusion
ulnar deviation of wrists
hemifacial seizures
ulnar deviation of the 5th finger
elevated plasma follicle stimulating hormone
coombs-positive hemolytic anemia
cutaneous leiomyomas
anomaly of the upper lip vermillion
illusory auras
obsolete pericentral pigmentary retinopathy
abdominal wall defect
absent hand
no fourth finger distal interphalangeal crease
tapered fingertips
absent end part of little finger bone
abnormality of the mesencephalon
bulbar weakness
adenoids large
prominent eyelashes
sclerosis of the phalanges of the 5th finger
epiblepharon of upper lid
incorrect alignment of wrist bone
prominent veins on trunk
glabellar hemangioma
vaginal atresia
wide bone of big toe
flared humeral metaphysis
decreased size of facial skeleton
sensory hallucination
abnormal ossification of the pubic bone
intermediate atrioventricular canal defect
asymmetry of the posterior skull
cranial nerve paresis
hypoplastic feet
4-hydroxyphenylpyruvic aciduria
stenosis of the medullary cavity of the long bones
absence of delayed hypersensitivity skin test
bracket shaped end part of the innermost bone of the pinkie finger
abnormal muscle fiber protein expression
urethrovaginal fistula
decreased urine output
focal t2 hypointense brainstem lesion
deformity of the temporomandibular joint
prolonged pr interval
large thyroid
germinoma
prelingual sensorineural hearing impairment
muscle hypertonia
thalamic dysgenesis
bifid terminal phalanx of toe
macrocephaly at birth
cerebral ventricular adhesions
partial/complete duplication of the middle phalanges of the hand
abnormality of hair texture
antepartum hemorrhage
cone-shaped epiphysis of the distal phalanx of the little finger
eyelid adhesion to globe of eye
mental impairment
costal cartilage calcification
increased genital pigmentation
abnormally small frontal sinus
abnormal tongue physiology
pointed mention region
ear hair
deep white matter hypodensities
sperm mid-piece anomaly
pulmonary artery vasoconstriction
absent ossification of thoracic vertebral bodies
absence of adult molar
abnormality of masseter muscle
ameliorated by
ulnar deviation of the wrist
mitochondrial respiratory chain defects
j-shaped pituitary fossa
corneal guttata
furrowed palms and soles
orthokeratosis
bilateral facial weakness
dislocated lens
gut duplication
head jerking
hypoplastic to aplastic thumbs
branchial sinus
generalized brain atrophy
triggered by period
unilateral ulnar hypoplasia
limb girdle weakness
bursitis
pavor nocturnus
depigmented fundus
partial/complete duplication of the proximal phalanx of the 5th finger
episodic vomiting
partial duplication of the middle bone of the index finger
concave bridge of nose
furrowed tongue
abnormal size of the clitoris
oral white plaque
heterogeneous
red cell stomatocytosis
adenocarcinoma of the small intestine
bullet-shaped bones of middle finger
distal lower limb muscle weakness
increased bone density in shaft of long bone in upper arm
gothic palate
muscle fiber hypertrophy
hypoplasia of deltoid muscle
abnormality of the anterior segment of the eyeball
aplasia/hypoplasia of the thymus
defective production of nfkb1-dependent cytokines
focal motor seizures
best corrected visual acuity 0.7 logmar
abnormal shape of brainstem
difficulty in tongue movements
short mandibular ramus
fluctuating hepatomegaly
absent humerus
bullet-shaped middle bones of the toes
type ii lissencephaly
nasal tip, wide
decreased distal sensory nerve action potential
mesangiolysis
ivory epiphysis of the middle phalanx of the 2nd finger
pointed primary incisor
axonal neuropathy
skin-picking
aplasia/hypoplasia of the 2nd metacarpal
antihelix, inferior crus, broad
fused pinkie finger bones
cystic lesions in the basal ganglia
short p-r interval
subsarcolemmal accumulations of abnormally shaped mitochondria
protruding upper lip
short halluces
small thumb epiphysis
abnormal csf dopamine level
short stature, disproportionate short limb
deviation of mandible
lentigo maligna melanoma
dilatation of the ascending aorta
uneven increase in bone density in middle bone of the 4th toe
2-4 toe cutaneous syndactyly
triangular end part of the 1st long bone of hand
fragmentation of the end part of the outermost bone of the pinkie toe
hypoplastic/small 3rd finger
abnormality of urine calcium concentration
abnormality of musculature of facial expression
flat dorsum of nose
underdeveloped chest on one side
upper limb amyotrophy
hip girdle muscle weakness
enhanced neurotoxicity of vincristine
absent/small 1st long bone of hand
fine hair shaft
underdeveloped superior helices
increased distance between medial canthi
polydactyly of the foot
curved middle phalanx of the 3rd toe
premature eruption of permanent teeth
inspiratory stridor
complete duplication of the proximal phalanx of the 5th toe
periauricular skin pits
laryngeal anomalies
bracket shaped end part of the outermost hand bones
advanced maturation of the humeral epiphyses
short lower eyelashes
gallbladder inflammation
hypotrophic midface
decreased urine citrate concentration
preeclampsia
connective tissue nevi
oncological abnormality
abnormal urinary electrolyte concentration
snowflake vitreoretinal degeneration
aplasia/hypoplasia involving the skeleton
partial duplication of the innermost bone of the pinky toe
talipes equinovarus
abnormality of pattern reversal vep
congenital localized skin absence
premature atrial contractions
testicular hydrocele
coarctation of the descending aortic arch
bullet-shaped proximal bone of the 4th toe
cardiac neoplasia
pointed proximal second through fifth metacarpals
subcapsular cataracts
eeg with central focal spikes
agenesis of uvula
prolonged qt interval
absent/underdeveloped lungs
enlarged epiphysis of the proximal phalanx of the 5th finger
absent cupid's bow
decreased body weight
thimble-shaped middle phalanges of hand
arnold-chiari type i malformation
duplication of the proximal phalanx of the 5th finger
abnormality of extrinsic lingual muscle
sunken eye
yellowing of the skin
short phalanx of the 5th toe
heffner tumor
absent/underdeveloped middle bone of pinky toe
hypothalamic gliosis
small vessel vasculitis
abnormality of the temporal bone
germ cell neoplasia
tremors in hands
abnormality of the hamate bone
auditory canal abnormality
abnormality of the proximal tibial epiphysis
increased post-void residual urine volume
single nare
cervical aplasia
lack of development of the nasal bone
hypoplastic alar cartilage
vertebral body compression
hyperbeta-alaninemia
progressive pes cavus
increased size of head
congenital cervical hypertrichosis
apneic episodes
reduced quantity of von willebrand factor
wet lung
shoulder girdle weakness
increased joint mobility
fragmentation of the epiphysis of the proximal phalanx of the 2nd toe
preaxial foot polydactyly
anterior cerebral artery stenosis
anal margin neoplasm
testicular abscess
branchial cyst
failure of tooth eruption due to mucopolysaccharidoses
esophageal neoplasm
decreased size of alveolar ridge
abnormal epiphyseal ossification
symphalangism affecting the proximal phalanx of the hallux
gray tooth shade
thin nasal septum
round, full face
abnormal hands
aplasia/hypoplasia of the proximal phalanx of the 4th toe
patellar subluxation
triangular epiphyses
neoplasm of the breast
decreased volume of upper lip vermilion
aplasia of the testes
self-injurious behavior
porphyrinuria
webbed 2nd-5th toes
intracranial epidermoid cyst
stippling of the epiphyses of the proximal phalanges of the hand
excessive focal folding of myelin sheaths
galactose intolerance
obsolete rudimentary to absent fibulae
extreme generalized edema
slow-growing nails
patchy sclerosis of the proximal phalanges of the hand
mody
abdominal obesity
enlarged end part of innermost long bone of the middle finger
gluten sensitivity
increased bmi
irregular end part of the innermost little finger bone
absent end part of pinky finger bone
right ventricular cardiomyopathy
subacute progressive viral hepatitis
intermittent yellow skin
curvature of digit
centrocecal scotoma
decreased glucagon level
grey eyebrow
serositis
club-shaped distal femora
abnormal timing of light-adapted single flash electroretinogram
vascular ring
abnormality of dental eruption
carpal bone osteolysis
patchy sclerosis of distal phalanx of finger
maxillary prominence
radial head subluxation
clinodactyly of feet
irregular epiphyses of the 3rd finger
chronic gastritis
tooth cavities
generalized dystonia
narrow retinal arterioles
sebaceous gland carcinoma
accessory mamillas
large head
abnormality of the metacarpal bones
missing permanent mandibular central incisor
greatly elevated alkaline phosphatase
distortion of the nasal skeleton
mastoiditis
insulin resistant diabetes
pre-b-cell acute lymphoblastic leukemia
thyroglossal duct cyst
failure of development of incisor
triggered by sudden movement
cochlear degeneration
squamous cell carcinoma of the vulva
single nostril
spongiform cardiomyopathy
anterior bowing of long bones
actinic keratosis
absent/small cerebellum
facial midline hemangioma
congenital heart defect
gap between 1st and 2nd toes
afferent ataxia
short middle bone of middle finger
ceruminous adenoma
stippling of the epiphysis of the proximal phalanx of the 2nd toe
abnormal csf amyloid level
alar clefts
pulmonary arteriovenous malformation
triangular end part of finger bones
lumbar kyphosis in infancy
abnormality of exocrine pancreas physiology
small fingernail
lower leg amyotrophy
decreased depth of orbits
abnormal curve of the spine
accelerated ankle bone maturation
chordee
abdominal situs inversus
muscle tissue disease
elevated urinary aminoisobutyric acid
recurrent candida infections
absent/underdeveloped middle bone of the middle finger
lymphoid germinal center defect
new blood vessel formation in cornea
increased hemoglobin oxygen affinity
nail disease
late closure of fontanelle
hypoplastic radius
low blood neutrophil level since birth
unequal sides of face
hypoplastic proximal phalanx of the hallux
atrioventricular canal type ventricular septal defect
abnormality of blood volume homeostasis
cholecystitis
decreased size of mandible
abnormal size the dental root
duplication of the distal phalanx of the 5th toe
absent/small innermost bone of middle finger
abnormality of color of lateral incisor
schwannoma
truncal obesity
camptodactyly of index finger
abnormality of urine glucose concentration
small end part of innermost shankbone
patchy sclerosis of the middle phalanx of the 2nd toe
flattened or absent electroretinogram
abnormality of the nasal alae
abnormality of the end part of the hand bone
underdevelopment of the premaxilla
reduced erythrocyte pyruvate kinase activity
fair skin
decreased gamma-globin expression
complement component 4b deficiency
bowing of the vocal cords
rectal atresia
aplasia/hypoplasia involving the vertebral column
subepithelial corneal opacities
pheochromocytoma
aplasia/hypoplasia of the 2nd finger
laryngeal stridor
curved phalanges of the 2nd finger
bracket epiphyses of the 5th finger
contracture of the proximal interphalangeal joint of the 3rd finger
tremor at rest
disproportionately short middle phalanges
agenesis of permanent maxillary central incisor
extra teeth
teratoma of the mediastinum
degeneration of the striatum
abnormality of dentoalveolar ridges
wide foramen magnum
large permanent upper central incisor
short middle bone of the pinky finger
chorioretinitis
jaw joint noise
decreased class-switched memory b cell count
aplasia of facial skeleton
hypoplasia of labia majora
microtia, third degree
lethal short-trunk short stature
absent first metatarsal
megaloblastic anemia
shoulder girdle atrophy
abnormality of the visage
malformation of craniofacial shape
polyostotic fibrous dysplasia
webbed fingers or toes
abnormality of middle finger phalanges
mild neurosensory hearing impairment
early closure of the fontanelles
tongue-like lumbar vertebral deformities
redundant skin in infancy
absent axillary hair
abnormal tooth enamel
cystic medial necrosis
retinal arteriolar constriction
cervical vertebral fusion
absent epiphysis of the proximal phalanx of the 3rd finger
torsion of the penis
clubbed fingers
knee pain
irregular finger bones
abnormality of skeletal maturation
earlobe, absent
aggravated by
increased cup-to-disc ratio
duplication of hand bones
triangular shaped proximal phalanx of the thumb
fused wrist bones and long bones of hand
nocturnal hypoventilation
dysmorphic midface
colonic stenosis
repeated pneumothoraces
aplasia of the distal interphalangeal creases
abnormal curve of the backbone
myopathic face
lymph nodes lack germinal center
brisk reflexes
epiretinal membrane
delivery by odon device
oedema of the basal ganglia
coalescence of tarsal bones
frosted cataract
abnormal size of the opening between the eyelids
cleft primary palate
convex nasal dorsum
spider veins of the mouth
adrenocortical abnormality
congenital diaphragmatic hernia
abnormality of the middle finger bones of the hand
hypothyroidism, congenital
short index finger phalanges
neurodegeneration
failure of development of eyebrows
athetosis
abnormal dental eruption
absent/small pinky toe bones
congenital absence of the vagina
triangular end part of the innermost bone of the 4th toe
agenesis of parotid duct
short fourth toe proximal phalanx
tricuspid valve dysplasia
aplasia of the outermost bone of the thumb
loss of eyesight
sclerosis of the proximal phalanx of the 2nd finger
impaired platelet aggregation
choroid disease
delayed recoil upon stretching of skin {xref="pmid:23919031"}
hyperextensibility of the knee
retinal astrocytic hamartoma
protruding ears
amniotic constriction band
fragmentation of the epiphysis of the distal phalanx of the 4th finger
failure of development of upper incisor
embryonal onset
pelviureteric junction obstruction
follicular hyperkeratosis
recurrent low blood sugar levels
moderate intrauterine growth retardation
abnormality of salivation
spotty increased pigmentation
2-5 finger syndactyly
posterior polydactyly of foot
thumb hypoplasia
abnormality of the joint spaces of the elbow
abnormality of the arachnoidea
arterial intimal fibrosis
broad cranium shape
abnormality of end part of the innermost bone of the pinkie finger
butterfly facial telangiectasia
ectopic kidneys
generalized arterial calcification
aplasia of the distal phalanx of the 2nd finger
hypoplasia of the premaxilla
nonverbal
abnormal iris pigmentation
spastic paraparesis
saying wrong words
short proximal phalanx of the third finger
abnormality of the cochlear nerve
curved ring finger bone
broad middle phalanx of the 3rd finger
athetoid movements
curved proximal phalanx of the 4th finger
hypoplasia of the lower limbs
speckled calcifications in end part of pinky finger bone
hyperpigmented scrotum
hypotrophic mandible
transient nephrotic syndrome
high serum testosterone level
wide gum ridges
abnormality of the phalanges of the 3rd toe
simple febrile seizures
chronic candidiasis of mucosa, skin and nails
muscle rigidity
recessed dorsum of nose
elevated imprint of posterior skull bones over the transverse sinuses
sclerosis of the middle phalanx of the 2nd toe
emg abnormalities
abnormal internal genitalia
enchondroma
increased anterioposterior diameter of chest
helix, crus, connected to antihelix
cutaneous cyst
excessive salivation
reduced proximal interphalangeal joint space
elbow flexion deformity
abnormality of the nasal cartilage
childhood attention deficit/hyperactivity disorder
short middle phalanx of the 3rd finger
supernumary teeth
myelodysplastic syndrome
upper limb phocomelia
short middle phalanx of the 4th toe
bilateral camptodactyly
no speech development
carpal osteolysis
fused innermost bone of index finger
bilateral ptosis
concave nasal dorsum
serum antimitochrondrial antibodies
laterally deficient tibial plateaux
relative macrocephaly
maternal first trimester fever
osteolytic defects of the proximal phalanx of the 5th finger
jerk-locked premyoclonus spikes
cryptophthalmos
neoplasia
primary undifferentiated carcinoma of the skin
dislocations of the knees
absent/underdeveloped inner ear
mandibular osteomyelitis
patchy sclerosis of thumb phalanx
absent proximal radial epiphyses
inflammation of the outer white part of the eye
fragmentation of the epiphyses of the 2nd toe
abnormal capillary morphology
agenesis of maxillary central incisor
dysfunctional alternative complement pathway
increased corneal thickness
anteverted nostrils
limb fasciculations
corneal vascularization
atresia of the eustachian tube
absent nails
osteolytic defects of the middle phalanx of the 5th toe
patchy sclerosis of the phalanges of the 3rd finger
high blood ammonia levels
anterior wedging of the 11th thoracic vertebra
anomaly of the ethmoid bone
muscular abnormality
enlarged end part of the outermost bone of little finger
symphalangism of the middle and proximal phalanges of the 3rd toe
elevated calcitonin
prolonged activated partial thromboplastin time
cerebral thrombosis
lateral displacement of the femoral head
sex-limited autosomal dominant
lower motor neuron manifestations
irregular vertebral plates
nasal ridge, wide
foot dorsiflexor weakness
diminished or absent deep tendon reflexes
absent end part of the outermost hand bones
nail-biting
spastic quadriplegia
broad bones of the little toe
splenic rupture
biliary tract obstruction
bracket epiphyses of the phalanges of the hand
complete duplication of the distal phalanx of the 3rd finger
large tailbone
decreased size of maxilla
abnormality of the phalanges of the toes
abnormal glomerular capillary morphology
narrowing of peripheral lung artery
midline skin dimples over anterior/posterior fontanelles
postnatal failure to thrive
abnormality of the calf
radiohumeral dislocation
pinhole visual acuity 0.4 logmar
anarthria
small maxilla
increased ossification of calvarial bones
elliptocytosis
appendicular hypotonia
axonal peripheral neuropathy
reduced factor viii activity
posterior urethral valves
aplasia involving bones of the upper limbs
increased diameter of nares
micrognathia
congenital dermal melanocytosis
neoplasia of the breast
abnormal compact bone morphology
malformation of the malar arch
cementoma
vein of galen malformation
inner retinal layer loss on macular oct
narrow greater sacrosciatic notches
duplication of the innermost bones of hand
valvular aortic stenosis
crumpled humerus
short chordae tendineae of the tricuspid valve
keratitis
camptodactyly of the 3rd finger
curved outermost bone of the 3rd finger
elfin facies
abnormality of the hindbrain
aplasia/hypoplasia of the proximal phalanx of the thumb
two carpal ossification centers present at birth
membranous ventricular septal defect
elevated jugular venous pressure
partial/complete duplication of the middle phalanx of the 4th toe
chronic tubulointerstitial nephritis
agenesis of canine
small testis
hypoglycaemia, recurrent
puffy cheeks
small epiphysis of the distal phalanx of the 4th finger
obsolete abnormal cardiological findings
decreased patellar reflexes
large fontanelles
dysseborrheic dermatitis
thin metacarpal cortices
decreased lymphocyte apoptosis
skeletal myopathy
deep episcleral hyperemia
inflammation of the large intestine
eeg with spike-wave complexes (2.5-3.5 hz)
decreased carpal joint angles
deformity of the columella
abnormal pancreas location
prominent xiphisternum
high nonceruloplasmin-bound serum copper
broad nasal root
flattening of facial skeleton
increased bone density of end part of the outermost bone of the 4th toe
excessive cerumen
dull pain
congenital, upward displacement of the scapula
deviation of the ring finger
alar cartilage hypoplasia
autism spectrum disorders
broad tibial metaphyses
bruising susceptibility
abnormality of natural killer cell number
absent end part of the middle bone of the 4th toe
small end part of the 1st long bone of foot
external auditory meatus atresia
low to undetectable plasma cortisol
partial duplication of the outermost bone of big toe
activating thyroid-stimulating hormone receptor defect
enlarged great longitudinal fissure
beta-galactosidase deficiency in fibroblasts and white blood cells
abnormality of the 4th toe
oligodactyly of feet
drowsiness
adrenocortical adenoma
absent/underdeveloped triceps
disrupted ocular pursuit movements
triangular end part of the innermost bone of the little toe
irregular end part of the outermost bone of the 3rd toe
cylindrical shaped long bones of hand
clitoral enlargement
abnormality of mentalis muscle
pontine hypoplasia
nasal congestion
muscle fiber necrosis
triangular shaped middle phalanges of the toes
duplication of phalanx of 4th finger
bowed shankbone
generalized tonic-clonic seizures on awakening
loss of subcutaneous adipose tissue from face, progressive
absent cone and rod functions by electroretinogram
increased bone density of end part of the 2nd toe
hypoplastic pulmonary veins
genital tumor
positive romberg sign
poor appetite
retinal cavernous haemangioma
emg abnormality
prominent fingertip pads
inadequate sweating
abnormal cervical curvature
abnormality of the cortex of hand bones
pointed front baby tooth
fewer baby teeth than normal
unusual facies
limited jaw mobility
increased bone density in the middle bone of the pinky toe
choroid hemorrhage
digital clubbing
developmental delay, gross motor
abnormality of the tracheobronchial system
bilateral coxa valga
non-acidotic proximal tubulopathy
milk intolerance
distortion of the nasal tip
prominent prostate median bar
elevated csf neopterin level
pyuria
large carpal bones
deciduous teeth retention
abnormality of intestinal smooth muscle morphology
galactorrhoea
oral white patch
abnormal serum estradiol
functional respiratory abnormality
axillary and groin hyperpigmentation and hypopigmentation
elevated serum potassium levels
abnormal innermost bone of ring finger
abnormal liver function tests during pregnancy
autoimmune hypoparathyroidism
posterior pituitary dysgenesis
underdeveloped twelfth rib
restricted hip extension
transverse facial cleft
abnormal urinary color
retinal capillary hemangioma
low five-minute apgar score
global developmental delay
adermatoglyphia
short neck of thighbone
familial predisposition
abnormal morphology of erythroid progenitor cell
retinal nonattachment
hypertrophic helix crus
advanced bone age
posterior fossa anomaly
abnormality of the end part of the innermost long bone in upper arm
pulmonary granulomatosis
obsolete short phalanges of the ring finger
marked metaphyseal flaring of long bones
full upper lip
malformation of the temporomandibular joint
ureteral atresia
osteosclerosis of ribs
abnormality of the skull cap
neoplasm of fatty tissue
small lens
aplasia of the distal phalanx of the 2nd toe
supernumerary naris
rockerbottom feet
dilation of foramen magnum
blisters of mouth
pelvic kidney
high urine glycopeptide levels
hair follicle neoplasm
muscle weakness, distal
jejunal adenocarcinoma
bipartite patella
premature closure of the bregma sutures
acne
proximal phalanges osteolysis
bruise easily
anodontia
intrahepatic cholestasis
chronic sinopulmonary infection
abnormality of colour vision
abnormal amsler grid test
retarded motor development
morgagni hernia
absent/small brainstem
progressively abnormally small skull
left ventricular noncompaction
unifocal splenic abscess
arrhythmias, supraventricular
decreased number of cd4+ t cells
serum alpha-fetoprotein increased
long feet
narrow lower jaw
broad cranial sutures
question mark ear
juvenile cortical cataract
hyperelastic skin
hypoplasia of the distal phalanges of the hand
short thorax
encephalopathy
coloboma
fragmentation of end part of the index finger
variability of spacing between teeth
irregular metaphyses of elbow
cleft of lower alveolar process
tongue protrusion
middle ear infection
short stature, disproportionate
erythrocyte macrocytosis
complete duplication of the proximal phalanx of the fifth toe
periapical lesion
retroperitoneal chemodectomas
hypodontia
renal failure
ureteral dilatation
epididymal cysts
flexion deformities of thumbs
abnormality of the physiognomy
partial/complete duplication of the proximal phalanx of the 3rd toe
abnormality of lower eyelashes
pulmonary lymphoma
abnormality of carbohydrate metabolism/homeostasis
maturity-onset diabetes of the young
nephroblastomatosis
partial autonomic seizures with altered responsiveness
myocardial steatosis
renal aplasia
stippling of the epiphyses of the 3rd finger
low intestinal alkaline phosphatase
hypoalphalipoproteinemia
absence of permanent lower central incisor
blonde eyebrow
reduced muscle fiber delta sarcoglycan
extraadrenal pheochromocytoma
acute episodes of neuropathic symptoms
prenatal onset
wide/broad middle finger phalanges
premaxillary excess
high blood magnesium levels
vascular remnant arising from the disc
post-partum haemorrhage
urgency frequency syndrome
irregular myelin loops
shortening of the achilles tendon
mandibulofacial dysostosis
intermittant
curved innermost finger bones of the hand
recurrent interdigital tinea
infra-orbital fold
early closure of the bregma sutures
abnormal liver iron concentration
triangular epiphyses of the middle phalanges of the hand
increased bone density in the middle bone of the 4th toe
notched front baby tooth
patchy sclerosis of the middle phalanx of the 5th finger
abnormality of facial adipose tissue
accessory lunate
oculomotor apraxia
hurthle cell thyroid adenoma
increased bone density of end part of the outermost little finger bone
tubular basement membrane disintegration
abnormality of lysine metabolism
agenesis of mandibular lateral incisor
sinusitis
forme fruste unilateral cleft lip
complete duplication of the proximal phalanx of the 3rd toe
duplication of the middle phalanx of the 2nd finger
spinal hemangioblastoma
decreased activity of mitochondrial atp synthase complex
grammar-specific speech disorder
vitreoretinal abnormality
abnormal humphrey sita 30-2 perimetry test
increased frequency of infection
late onset
retrobulbar neuritis
patchy sclerosis of the middle phalanges of the toes
onychomycosis
missing parotid duct
subcutaneous calcification
bitemporal hemianopia
short outermost bone of the little toe
spontaneous rupture of the globe
cutis verticis gyrata
pvwmh
spider hemangioma
elevated systolic blood pressure
aplasia/hypoplasia of the 3rd toe
patchy sclerosis of the distal phalanx of the hallux
deep-set nails
trigemino-oculomotor synkinesis
malformation of the forehead
aplasia/hypoplasia of the middle phalanges of the hand
osborne waves
vertebral clefting
polycystic liver disease
cystic adenomatoid lung disease
epileptic encephalopathy
absent end part of the outermost bone of the middle finger
absent patellar reflexes
hepatic fibrosis
triggered by tobacco use
unilateral lambdoid craniosynostosis
split foot
left ventricular hypertrophy
absent middle toe bones
cystic retinal degeneration
streaky metaphyseal sclerosis
distal upper limb muscle hypertrophy
protruding occiput
hyperoxaluria
abnormality of the cerebellar vermis
cupped ribs
juvenile rheumatoid arthritis
low back pain
abnormality of the curvature of the vertebral column
frontal release reflexes
ivory epiphysis of the distal phalanx of the little finger
displaced index finger
pseudohypertrophy of the calves
pancreatic cyst
triangular epiphysis of the proximal phalanx of the 5th toe
liver cancer
proximal femoral metaphyseal abnormality
abnormality of cardiovascular system physiology
corner fracture of metaphysis
increased class-switched memory b cell count
abnormality of the distal humeral epiphysis
xanthine dehydrogenase deficiency
crowded carpal bones
koilonychia
hair loss on scalp from scarring condition
symphalangism affecting the phalanges of the toes
aplasia/hypoplasia of the phalanges of the 2nd finger
muscle cramps following exercise
marcus gunn jaw-winking syndrome
macular microaneurysm/hemorrhage
hypotonia
translucent skin
bracket epiphyses of proximal index finger phalanx
abnormal location of ears
reduced erythrocyte 2,3-diphosphoglycerate concentration
abnormality of thumb phalanges
angiosarcoma
hypoplastic distal humeri
mastoid processes poorly pneumatized
elbow clonus
spasticity, progressive
functional abnormality of the inner ear
short middle phalanx of the 5th toe
cholangitis
ovarian serous cystadenoma
hyperpigmented/hypopigmented macules
stippling of the epiphysis of the proximal phalanx of the hallux
hardened artery wall
enlarged epiphysis of the proximal phalanx of the hallux
short fourth toe
long slender fingers
venous malformation
lack of speech
stomach inflammation
accessory fontanelle
helix, darwin tubercle
dysmorphic inferior cerebellar vermis
patchy sclerosis of radial diaphysis
webbed index through ring fingers
extracranial internal carotid artery dissection
abnormality of the periosteum
mental retardation, moderate
abnormal bone maturation
localized periodontal disease
complete duplication of the distal phalanges of the hand
absent/small calf bone
blushing
widely spaced deciduous teeth
elongated superior cerebellar peduncle
triangular epiphyses of the 2nd finger
abnormal cns myelination
abnormality of the wide portion of the hand bone
increased amount of facial fat
kayser-fleischer ring
increased hba2 hemoglobin
congenital posterior occipital alopecia
protrusio acetabuli
cold-sensitive myotonia
acral ulceration leading to autoamputation of digits
abnormality of shape of primary molar
sclerosis of the middle phalanx of the 4th toe
foveal atrophy
paradoxical myotonia
muscularis propria malformation
premature epimetaphyseal fusion in radius
abnormal eye physiology
haemobilia
absent fingers or toes
darkening around the eyes
absent/underdeveloped outermost finger bone of the hand
small facial skeleton
retinal folds
broad distal phalanx of the toes
increased bone density of end part of the ring finger bone
abnormality of the humeral epiphysis
absent spinal cord
central polydactyly of feet
thin lower eyelashes
dermatan sulfate excretion in urine
limitation of knee mobility
aprosencephaly
aplasia of the primary palate bone
long collarbone
reduced size of pulp chamber of tooth
generalized amyotrophy
unilateral breast hypoplasia
absent ossification of the trapezium
pulsatile tinnitus
plaque-like facial hemangioma
restrictive ophthalmoplegia
abnormality of brain morphology
abnormality of the penis
recessed nasal dorsum
triangular shaped middle bones of toes
tertiary hypothyroidism
asphyxia neonatorum
firm muscles
jaw pain
upswept frontal hair
abnormal atrioventricular connection
rhomboid shaped cranium
chiari malformation
triangular epiphyses of the thumb
absence of the premaxilla
periostosis
vertical deficiency of upper lip
tachycardia
absent middle bones of hand
amniotic constriction ring
immunological abnormality
sclerosis of the proximal phalanx of the hallux
macromandible
triangular end part of the innermost bone of the big toe
cardiac neoplasm
increased projection of maxilla
duodenal villous atrophy
talipes equinovalgus
vertical overgrowth of face
vvor impairment
uneven increase in bone density in the middle bone of the index finger
elevated total cholesterol
transverse excess of face
abnormality of thyroid physiology
cone-shaped epiphysis of the distal phalanx of the 5th finger
abnormality of hair pigmentation
tibial deviation of the 4th toe
neoplasm of the ceruminal gland
atrophy/degeneration of the corpus callosum
multiple fractures
marked delay in eruption of permanent teeth
cheyne-stokes respiration
cone-shaped end part of the middle bone of the pinkie toe
large ankle bones
cone shaped tooth
abnormality of the anterior horn cells
tongue telangiectasia
underdeveloped brainstem
shallow acetabular fossae
fistula in ano
atrioventricular re-entry tachycardia
underdeveloped tricuspid valve
tracheal tug on inspiration
proximal spinal muscular atrophy
scotoma
abnormality of the mitochondrion
duplication of the outermost little finger bone
retrocollis
increased bone density in the outermost little finger bone
preauricular skin tag
reduced phenylalanine hydroxylase activity
foveal subretinal hyporeflective spaces on macular oct
broad hamate bone
abnormality of the spinocerebellar tracts
narrowing of the rear opening of the nasal cavity
dark choroid
flared, irregular rib ends
delayed closure of the anterior fontanelle
renal corticomedullary cysts
congenital sensorineural hearing loss
broad outermost pinkie finger bone
dysgenesis of corpus callosum
increased bone density of end part of the innermost bone of little finger
salaam seizures
contractures of the hands
bracket shaped end part of the outermost little finger bone
failure of development of mandibular premolar
chorioretinal hyperpigmentation
double tooth
irregular end part of the innermost bone of the 3rd toe
hyperbetalipoproteinemia
abnormal csf biopterin level
stereotyped behaviors
complete achromatopsia
crowded teeth
late onset atopic dermatitis
weight less than 3rd percentile
dislocated lenses
abnormality of the phalanges of the 5th toe
short opening between the eyelids
triangular shaped innermost 2nd toe bone
carotid artery dissection
enlarged end part of the outermost bone of the 3rd finger
bullet-shaped of bone of ring finger
irregular end part of innermost thighbone
forward directed upper incisors
patchy sclerosis of middle finger phalanges
intermittent thrombocytopenia
facial verruca
swelling of lower eyelid
difficulty adjusting from dark to light
modic type i vertebral endplate changes
orbital cyst
vesicovaginal fistula
fibular deviation of the 2nd toe
small femoral capital epiphyses
pseudoepiphysis of the proximal phalanx of the thumb
broad humeral epiphyses
neoplasm of the nose
recurrent sinopulmonary infections
inflammatory cap polyp
abnormality of spacing of incisors
malar anomaly
dextrocardia
laryngeal cancer
premature fusion of phalangeal epiphyses
cone-shaped epiphyses of the toes
malformation of cranial vault shape
microphallus
autonomic visceral myopathy
dry hair
absent/underdeveloped 1st long bone of foot
jaw pain while chewing
pyropoikilocytosis
bicuspid aortic valve
squamous cell carcinoma of the skin
emg: spontaneous, repetitive electrical activity
abnormal amplitude of dark-adapted bright flash electroretinogram
abnormality of the velum
xanthelasma of periocular region
amyotrophy involving the upper limbs
thyroid hemiagenesis
thin tip of nose
beaking of vertebral bodies t12-l3
congenital malformation of the right heart
increased width of face
aplasia/hypoplasia affecting the anterior segment of the eye
uncoordinated limb movement
fused innermost bone of little finger
corneal erosions, recurrent
spider veins
bullet-shaped 2nd toe phalanx
abnormality of skin morphology
anterior dislocation of radial head
colonic atresia
pain
neoplasm of the scrotum
macroscopic hematuria
ventricular hypertrophy
drooping of both upper eyelids
hardening of ankle bones
contracture of elbow joint
parkinsonism
sclerosis of 4th toe phalanx
silent pituitary adenoma
pseudoepiphysis of the middle phalanx of the 5th finger
absent/small outermost 3rd toe bone
retinoschisis
grasp reflex
puffy eyelids
abnormal prominence of the crus of the ear
fragmentation of end part of innermost long bone of the middle finger
polydactyly of the hand
patchy sclerosis of the distal phalanges of the hand
hand muscle wasting
abdominal muscular hypoplasia
exercise-induced myoglobinuria
corticospinal tract dysfunction
primary t-lymphocyte immune abnormalities
bullet-shaped outermost pinkie finger bone
sebaceous mole
thin long bones
muscle weakness, distal, progressive
hemophagocytosis
peripheral corneal opacity
abnormal upper to lower segment ratio
bilateral ulnar hypoplasia
fulminant hepatitis
paralysis of both sides of the face
decreased length of septum of nose
amyotrophy
fused inner lips
abnormal form of the vertebral bodies
lethargy
profound hearing impairment
elevated urinary carboxylic acid
wrist stiffness
anomaly of the maxilla
tricuspid atresia
superficial episcleral hypaeremia
non-occlusive coronary artery disease
decreased size of midface
ependymoma
type e brachydactyly
progressive hyperpigmentation
absent end part of the outermost bone of the little toe
freckles in groin region
small humeral epiphyses
increased red cell sickling tendency
pseudoepiphyses of the 5th finger
cone-shaped epiphyses of the 5th finger
macrothrombocytopenia
blepharospasm
aplasia/hypoplasia of the middle ear
large eyeballs
cone-shaped end part of the innermost hand bones
cancer
abnormal plantar dermatoglyphics
macroglossia
thin metatarsal cortices
hypoplasia of teeth
anomaly of the basal ganglia
echologia
laterally curved eyebrow
uneven increase in bone density in ring finger bone
tumour
laterally sloping humeral metaphysis
costochondral thickening
total anophthalmia
abnormality of platysma
progressive central vision loss
shoulder pain
abnormality of the end part of the outermost bone of finger
ureter duplex
agranulocytosis
dysgenesis of the cerebellar vermis
rectal polyposis
absent 5th long bone of hand
elevated creatinine
exostoses of hand bones
muscular subaortic stenosis
hyperphosphaturia
hypouricemia
abnormality of the middle phalanx of the ring finger
increased urinary chloride
curved proximal phalanx of the thumb
symphalangism affecting the proximal phalanges of the hand
asymmetric limb hypertrophy
uneven increase in bone density in the innermost bone of the 3rd toe
pretibial blistering
triangular shaped phalanges of the toes
olfactory lobe absence
delayed maturation of the scaphoid
skin tumors
yellow skin
distal shortening of limbs
type 2 transferrin isoform profile
abnormality of the antitragus
speckled calcifications in end part of the outermost long bone of the middle finger
cone-shaped epiphysis of the proximal phalanx of the 2nd toe
microcephaly, progressive
losing words
cerebral white matter agenesis
absent outermost pinky finger bone
steep mandibular plane angle
dermatoglyphic ridges abnormal
fused end and middle bones of pinky finger
hypoplastic pancreas
increased height of upper lip
increased intracranial pressure
failure of development of a tooth
ectopic anterior pituitary gland
lower limb muscle weakness
abnormal blistering of the skin
craniofacial asymmetry
fused outermost bone of 3rd toe
speckled calcifications in end part of little finger bone
stippling of the epiphysis of the distal phalanx of the 2nd finger
asthma
absent/small pinky toe
mandibular excess
contracture of the tarsometatarsal joint of the hallux
absent 2nd long bone of hand
progressive mental deterioration
oral hemorrhage
elevated sedimentation rate
comma-shaped wrist bones
reduced euglobulin clot lysis time
abnormal shape of the back of the skull
ebstein's malformation
angiofibromas
beaked vertebral bodies
vitreoretinal degeneration
spotty decreased pigmentation
bidirectional shunt
ivory epiphyses of the proximal phalanges of the hand
head tremor
broad proximal phalanx of the 2nd finger
increased nasal width
hypertyrosinemia
skeletal anomalies
amblyopia
acute otitis media
chin spasms
clinodactyly of the 2nd toe
osteolytic defects of the proximal phalanx of the hallux
spasms on one side of the face
wide outermost bone of the 3rd toe
nystagmus, congenital horizontal
high myopia
progressive pulmonary function impairment
big skull
abnormal apolipoprotein level
osteolytic defects of the distal phalanx of the 5th finger
abnormality of the proximal phalanx of the hallux
disorder of dental eruption
collateral biliary circulation
simplified gyral pattern
hypoplastic labia minora
enlarged cornea
cleft lower lip
abnormality of cheek mucosa
anomalous trichromacy
cervical polyp
joint laxity
dystonic disease
midshaft hypospadias
displaced pinkie finger
eeg with focal spike waves
small facial bones
absence of adult teeth
wide middle phalanx of the 5th finger
enlarged end part of the pinkie toe bone
narrow internal auditory canal
atrial situs ambiguus
misalignment of upper and lower dental arches
absence of mandibular premolar
webbed 1st-2nd toes
erythrocytosis
absent end part of the innermost bone of pinky finger
hearing loss, sensorineural, progressive
bracket epiphysis of the middle phalanx of the 3rd toe
spina bifida
varying degree of multiple fractures
growth deficiency
acute promyelocytic leukemia
adrenocortical adenomas
post-angioplasty coronary artery restenosis
transverse metaphyseal bands
osteolytic defect of the distal phalanx of the thumb
short palm
dystopic os odontoideum
receding lower jaw
deep tendon reflexes absent
fused innermost and middle bone of index finger
small baby teeth
prominence of the premaxilla
severe sensorineural hearing loss
decreased purine levels
enlarged epiphysis of the middle phalanx of the 2nd finger
dilated vestibular aqueduct
abnormal platelet aggregation
psychomotor development failure
thyroid gland inflammation
enlarged epiphyses of the 3rd toe
nevus flammeus of the forehead
abnormality of the clivus
palmoplantar keratoderma
photosensitive skin rashes
triggered by fever
partial duplication of the proximal phalanx of the 2nd finger
aplasia/hypoplasia of the testes
increased deep tendon reflexes in the lower limbs
hypoplasia of cerebellum
abnormality of brainstem morphology
webbed 1st-3rd finger
decreased size of paranasal sinus
ornithinuria
coloboma of the iris
cervical elongation
disharmonious wrist bone
pigmentation anomalies of sun-exposed skin
premature eruption of adult teeth
retinal arterial occlusion
flattening of alveolar processes of jaw
neuro-degenerative disease
constitutional symptom
broad phalanges of the 4th toe
primarily generalized tonic-clonic seizures
amyloidosis
budd-chiari syndrome
congenital non-bullous ichthyosis
deep cerebral white matter hyperdensities
absent innermost bones
short mandibular condyles
abnormality of dental shade
hypoplasia of the maxilla
mittendorf dot
premature exfoliation of primary teeth
extracapillary hypercellularity
short long bone of hand with rounded innermost ends
wedge shaped skull
recurrent gram-negative bacterial infections
optic nerve dysplasia
interdigital loops
numerous multiple fractures present at birth
fever induced seizures
whistling appearance
hyperpigmentation of the skin
heterogeneity
anaplastic thyroid carcinoma
emg: axonal abnormality
abnormality of the epiphysis of the proximal phalanx of the 2nd toe
curved middle ring finger bone
hydronephrosis
enlarged end part of the innermost bone of the 2nd toe
lupus anticoagulant
delayed maturation of the trapezoid bone
wide-cupped costochondral junctions
congenital bone fractures
increased glomerular filtration rate
malformation of nasal base
total alopecia
irregular tarsal ossification
oligogenic inheritance
abnormality of blood vessel of neck
abnormality of procerus muscle
heavy brow of the face
immune thrombocytopenia
abnormal eye
paroxysmal lethargy
increased size of eyes
aplasia/hypoplasia of the distal phalanx of the 3rd toe
congenital scars
keratoglobus
radial head dislocation/subluxation
abnormality of immune serum protein physiology
dermoid cyst
stippling of the epiphysis of the middle phalanx of the 2nd finger
coloboma of iris and retina
flattened and twisted hair
large, protruding ears
patchy sclerosis of the middle phalanx of the 3rd finger
broad ischia
big cranium
cardiovascular calcification
iris atrophy
deformity of the nasal ridge
beta-eeg
cerebellar tremor
umbilical hernia
webbed thumb and index finger
pulmonary atelectasis
absent lacrimal openings
defect in the atrial septum
irregular endplates
sparse facial hair
speckled calcifications in end part of finger bones
shallow nasolabial fold
cleft of the lower lip
abnormality of the ciliary body
tumor of the skin
coarse face
atherosclerotic cardiovascular disease
ivory epiphysis of the proximal phalanx of the 2nd toe
high blood leucine concentration
short metatarsal bone
newborn respiratory distress
abnormality of the biliary system
prolonged qrs complex on ekg
symphalangism affecting the proximal phalanx of the 5th toe
symphalangism of middle phalanx of 2nd finger
enlargement of the labia
abnormality of the posterior fossa
curved innermost bone of pinky finger
beta wave electroencephalography
proximal/middle symphalangism of 5th toe
posterior flattening of the skull
peripheral pulmonary vessel aplasia
tendency to chromosomal breakage
increased urinary disaccharide excretion
absent epiphysis of the proximal phalanx of the 5th toe
pancreatic fistula
muscle fiber splitting
short distal phalanx of the 2nd toe
alopecia areata
broad humerus
head titubation
recurrent encephalopathy
central vertebral hypoplasia
webbed 1st-4th finger
curved distal phalanx of the 4th toe
early loss of adult teeth
early ossification of capital femoral epiphyses
mood alterations
enlargement of the wrists
absent/small index finger
synostosis of thumb phalanx
duplication of phalanx of the 4th toe
polydactyly affecting the 3rd toe
notched thumb bone
narrow thoracolumbar interpediculate distance
cleft secondary palate
neoplasm of the mouth
palmar hyperkeratosis
lateral deviation of halluces
enlarged humeral metaphyses
visual hallucinations
autosomal dominant germline de novo mutation
abnormal automated kinetic perimetry test
urinary tract infection
cardiovascular shock
absent abdominal musculature
bilateral conductive hearing loss
atelectasis
obstructive lung disease
somatic mosaicism
absent/underdeveloped 2nd toe
prominent nasal tip
fused innermost bones of 4th toe
renal cysts
acroosteolysis of feet
abnormality of the end part of the ring finger
retinal arteritis
gastric varix
uneven increase in bone density in 3rd toe bone
activating tshr defect
tsh deficient hypothyroidism
bronchial cartilage hypoplasia
obsolete wide/broad phalanges of the ring finger
lower thoracic interpediculate narrowness
intracranial internal carotid artery dissection
high blood lysine levels
gamma-a globulin deficiency
reduced consciousness/confusion
congenital malformation of the left heart
rigid spine
lipoma
achromasia
nasolabial crease, underdeveloped
colonic varices
tsh excess
x-linked recessive
arterial calcification
fewer deciduous teeth than normal
eversion of lateral third of lower eyelids
hypoplasia of dental enamel
triangular shaped bone of ring finger
hyperuricosuria
acute onset
self-mutilation of tongue and lips due to involuntary movements
progressive conductive hearing impairment
high blood sugar
absent quads
sudden death
triangular face
irregular epiphyses of the toes
shortening of all finger bones
erratic myoclonus
complete duplication of the bones of the index finger
pointed ulna
nasal bone hypoplasia
aplasia/hypoplasia of the lens
small basal ganglia
carotid paraganglioma
congenital cataract
abnormality of the glabella
aplasia cutis congenita over the scalp vertex
deep philtrum
irregular ossification of humeral metaphyses
limited mandibular opening
failure of development of twelve year molar
tooth abscess
reduced head circumference
hyperintensity of mri t2 signal of the spinal cord
fragmentation of the end part of the innermost bone of the 4th toe
xerophthalmia
malignant gastrointestinal tract tumors
abnormality of the end part of the innermost bone of the pinky toe
hyperplastic antitragus
anejaculation
pseudoepiphyses of the phalanges of the hand
high maternal serum alpha-fetoprotein
mesomelic/rhizomelic limb shortening
uncontrolled eye movements
purpura rheumatica
hematochezia
posterior embryotoxon
bracket shaped end part of little finger bone
markedly retarded bone age
attention deficit hyperactivity disorder
shoulder dystocia
flat nasal dorsum
angioblastoma
enlargement of the diameter (cross-section) of a coronary artery.
onset
abnormal shape of cartilage
wide-spaced nipples
decreased mobility of joints
hypoplastic labia
increased plasma vldl cholesterol
abnormal circulating aldosterone
decreased breadth of upper jaw bones
saccular descending thoracic aortic aneurysm
primary gonadal insufficiency
elevated creatine kinase after exercise
dumbbell-shaped humerus
recurrent corneal erosions
abnormal inner ear epithelium morphology
short outermost bone of the 2nd toe
mild short stature
fatigable weakness of distal limb muscles
abnormality of the cervical vasculature
fragmentation of the end part of the 3rd toe bone
menigioma
macular hypopigmented whorls, streaks, and patches
patchy sclerosis of the 1st metacarpal
stool holding
reduced circulating t-helper cells
shallow palm line
induced vaginal delivery
short clavicles
absent end part of the pinky toe bone
enlarged epiphyses of the toes
direct coombs positive
hypoplastic spleen
left-sided heart failure
abnormality of ophthalmic artery
molar tooth sign
cortical pulverulent cataract
viral infection-induced rhabdomyolysis
wide radial diaphysis
reduced sperm motility
rectal prolapse
reduced brain choline level by magnetic resonance spectroscopy
absent end part of the middle bone of the pinky finger
short middle phalanx of the 2nd finger
bracket shaped end part of the middle bone of the 2nd toe
nasal abnormality
parietal encephalocele
vulvar adenocarcinoma
bullet-shaped bones of the pinkie toe
small end part of long bone in upper arm
prolonged bleeding after dental extraction
anterior diastema of teeth
decreased/absent ankle reflexes
femoral bowing present at birth, straightening with time
antineutrophil antibodies
fatty acids abnormal
gait abnormalities
increased bone density in the outermost bone of the pinky toe
abnormality of the proximal 2nd finger phalanx
low sperm count
meconium stained amniotic fluid
abnormality of cerebral veins
decreased projection of lower jaw
flared elbow metaphyses
decreased hip abduction
underdevelopment of midface
hypoplastic tongue
intrahepatic biliary atresia
intervertebral disk calcification
tarsal delayed ossification
bullet-shaped pinkie finger bones
barrett esophagus
abnormal numbers of lymphocytes
abnormal morphology of myocardial trabeculae
complete duplication of the middle phalanges of the hand
reduced muscle fiber emerin
abnormal platelet morphology
contractures of elbows
cardiomyopathy, dilated
absent/small radius
primary pulmonary hypertension
riboflavin deficiency
abnormality of the incisor
ophthalmic artery anomaly
neoplasm of the ear
abnormality of the carotid arteries
vertical gaze palsy
presbycusis
abnormal indocyanine green angiography
incomplete cleft of the upper lip
photoreceptor outer segment loss on macular oct
multiple vertebral anomalies
increased breadth of bridge of nose
supernumerary carpal bones
overgrowth of alveolar ridge
duplication of middle bone of 2nd toe
small end part of the 1st long bone of hand
bullet-shaped outermost bone of the 4th toe
staphyloma
abnormality of the 5th long bone of hand
abnormal serum cobalamin level
dermatopathy
cloverleaf skull shape
abnormality of the vasculature of the conjunctiva
absent/small thighbone
antegonial notching of mandible
curved pinky finger bone
schistocytosis
stomach pain
osteosclerosis, diffuse symmetrical
cerebral folate deficiency
microphthalmos
severe short-limb dwarfism
iris hypopigmentation
premaxillary bone excess
autonomic dysfunction
curved middle bone of pinkie finger
proximal humeral metaphyseal irregularity
acrochorda
loss of peripheral vision
scarring alopecia of scalp
abnormal serum testosterone level
adrenal abnormalities
flat facial profile
enuresis
short lower third of face
tooth size discrepancy
enlarged epiphysis of the distal phalanx of the 5th toe
telangiectasia, facial
triangular shaped middle pinkie finger bone
abnormality of mandibular symphysis
angiokeratomas
microface
fusion of the innermost big toe bone with the 1st long bone of foot
absent outermost hand bone
von willebrand disease type ii normandy
sixth nerve palsy
left ventricular failure
malformation of mandibular premolar
acute renal failure
loss of visual acuity
limited elbow extension and supination
cone-shaped end part of innermost long bone of index finger
long-tract signs
small end part of the outermost bone of the ring finger
malabsorption of vitamin b12
hypoglycorrhachia
pancreatic islet-cell hyperplasia
abnormal facial expression
absent foveal reflex
jaw joint grating sound
progressive extrapyramidal rigidity
heliotrope rash of eyelid
infection of the lacrimal sac
absent/small little finger
deficiency or absence of cytochrome b(-245)
abnormality of the pinkie toe
progressive macrocephaly
retrusive midface
incipient distal thumb phalanx duplication
central diabetes insipidus
abnormality of the sacroiliac notch
low frontal hairline
aplastic patellae
complete duplication of the middle bone of the index finger
aplasia of lymphatic vessels
cutaneous syndactyly between fingers 2 and 5
myoclonus
adipocyte hypertrophy
inferior mesenteric artery aneurysm
occipital plagiocephaly
seesaw nystagmus
fused end and middle bones of pinkie finger
spinal cord anterior horn cell degeneration
irregular end part of the 4th toe bone
elbow contractures
abnormality of dental morphology
triceps aplasia
excess nuchal skin
celosomia
coxa valga deformity
lipodystrophy, generalized
silver-gray hair
narrow facies
short stature, mild
facial fat hypertrophy
advanced ossification of the hand bones
hutchinson's teeth
aplasia/hypoplasia of the cochlea
abnormality of the epiphysis of the distal phalanx of the 2nd toe
hypoplastic heart
risus sardonicus
duplication of thumb phalanx
sensory neuropathy
absent/underdeveloped pubic bones
depressed nasal ridge
absent innermost bone of the pinky toe
osteosclerosis of the ulna
stippling of the epiphysis of the proximal phalanx of the 3rd finger
slender long bones
absent femoral head
congenital ichthyosiform erythroderma
fetal pinky finger curvature
increased peripheral myelination
congenital hip dislocation
premature epimetaphyseal fusion in hand
scimitar syndrome
frayed, irregular metaphyses
hypoplastic palate
non-small cell lung cancer
decreased number of vertebrae
dysplastic acetabulae
portal hypertension
haemorrhage of the eye
tubular phosphate reabsorption low
dilated semicircular canal
chin with h-shaped crease
narrow bridge of nose
autosomal recessive form
hepatic agenesis
punctate calcifications of carpals
cleft tip of nose
labial angioectasias
slender outermost bone of finger
aplasia of the 3rd finger
atrial septal aneurysm
neuronal lipopigments
aplasia of the phalanges of the thumb
triggered by sodium ingestion
duplication of the bones of the pinky toe
wide symphysis of pubis
bullet-shaped hand bones
fetal choroid plexus cysts
bracket shaped end part of the innermost bone of 3rd toe
bracket shaped end part of finger bones
abnormal pigmentation
cancer of the pancreas
upper respiratory tract infections, recurrent
unerupted dentition due to mucopolysaccharidoses
duplication of the distal phalanx of the hallux
dysdiadochokinesia
increased red cell hemolysis by shear stress
focal myoclonic seizures
dysdiadochokinesis
epidural arachnoid cysts of the spinal canal
heterotropia
elevated plasma branched chain amino acids
fused middle bones of 5th toe
abnormal morphology of bones of the lower limbs
abnormality of the 5th finger
static congenital hemeralopia
deformity of facial adipose tissue
visually enhanced vestibulo-ocular reflex impairment
teeth present at birth
absence of memory b cells
obsolete progressive central visual loss
broad inferior crus of antihelix
titubation
chondritis
hemolytic uremic syndrome
synostosis involving the 5th metacarpal
localized epidermolytic hyperkeratosis
recurrent episodes of infectious dermatitis
decreased body height
increased cervical length
enlarged end part of the pinkie finger bones
small end part of the innermost bone of the pinkie toe
cone-shaped end part of the big toe bone
hypoplastic/aplastic middle phalanx
cranial nerve compression
cholesterol gallstones
abnormality of the fingernails
abnormal muscle fiber myotilin
absence of primary maxillary lateral incisor
abdominal swelling
abnormality of foveal pigmentation
abnormally shaped muscle
aplasia/hypoplasia of the proximal phalanx of the 2nd toe
twisted cerebral arteries
preauricular skin groove
islands of bone within cranial sutures
psychomotor regression
small shoulder blade
choroid plexus cyst
prostatitis
narrowing of a cerebral artery
cutaneous syndactyly of digits
paroxysmal nocturnal haemoglobinuria
atrophy/degeneration involving the spinal cord
diastasis of the teeth
fibular bowing
single flexion crease
elevated blood parathyroid hormone level
podagra
cerebral gliosis
defective erythropoiesis
recurrent singultus
fatty infiltration of liver
hypothalamic dysgenesis
oral leukokeratosis
wide space between first and second toes
amyotrophy of distal limb muscles
persistent deciduous dentition
abnormality of chemokine secretion
facial spasms
hypoplasia of first ribs
hemoglobin barts
small epiphysis of the distal phalanx of the hallux
muscle fibre splitting
azotaemia
failure of development of eyelashes
gastrointestinal angiodysplasia
synostosis involving metacarpal bones
fetal fifth finger clinodactyly
chronic respiratory acidosis
malformed external ears
corneal inflammation
primary ovarian insufficiency
gastrointestinal hamartomatous polyps
pineal parenchymal cell neoplasm
elevated amniotic fluid alpha-fetoglobulin
sparse anterior scalp hair
narrow penis
inadequate arch length for tooth size
ophthalmoparesis
failure of development of some primary teeth
broad distal phalanges of the hand
functional abnormality of the gastrointestinal tract
lobar holoprosencephaly
central nervous system cyst
abnormality of facial skeleton
disc-like vertebral bodies
small milk teeth
bilateral facial paralysis
aplasia of tooth root
abnormality of the vocal cords
missing between one and six teeth
aplasia of the tibia
reticulocytosis
bullet-shaped proximal phalanx of the 4th toe
partial duplication of hallux
broad eyebrow
unilateral oligodactyly
rhomboid or triangular shaped little finger bone
gonadal hypoplasia
lamellar pulverulent cataract
hypoplasia of the iris
ankylosis of feet small joints
dyskinetic cerebral palsy
migrational brain disorder
hypertrophic tragus
protruding supraorbital ridge
bow-leggedness
protein c deficiency
broad tip of nose
prominent supraorbital ridges
enlarged penis
paravenous chorioretinal atrophy
fused innermost and middle bones of pinky finger
speckled calcifications in the end part of the 3rd toe bone
absent distal phalanx of the second toe
absence seizures
duodenal ulcer
bullet-shaped innermost little finger bone
uneven increase in bone density in the middle finger bones of the hand
abnormal stomach location
restrictive respiratory syndrome
triangular shaped distal phalanx of the hallux
gastric malposition
radial dislocation
bleeding with minor or no trauma
spoken word recognition deficit
failure of development of the nasal bone
pituitary somatotropinoma
small septum of nose
bowing of long bones
hypermagnesemia
absent/underdeveloped 4th toe
shortened short tubular bones of the hand
arthrogryposis
prominent ear helix
abnormality of aspartate family amino acid metabolism
one sided cleft upper lip
myoclonus seizures
xanthelasma palpebrarum
cystic angiomatosis of bone
small sacroiliac notch
underdeveloped biceps
endocardial fibrosis
decreased size of nasal alae
absent epiphyses of the phalanges of the hand
increased testosterone
absent/small pelvis muscles
abnormality of nasal musculature
nonbullous congenital ichthyosiform erythroderma
increased bone density in hand bone
hypoplastic philtrum
histiocytoma
secondary growth hormone deficiency
ophthalmoplegia
temporomandibular joint sounds
nasogastric tube feeding in infancy
partial duplication of the innermost bone of 4th toe
dilatation of the abdominal aorta
delayed oxidation of acetaldehyde
intrauterine growth restriction
senile macular degeneration
thyrotoxicosis from ectopic thyroid tissue
visual loss
abnormality of the abdomen
aortic valve regurgitation
fusion involving the 3rd long bone of hand
formation of fibrous tissue in the renal glomerulus.
angle class 2 malocclusion
recurrent hemorrhagic stroke
flat facies
thromboembolism
hypertrophy of frontal sinus
muscle weakness, progressive, distal
cervical spine segmentation defect
spontaneous neonatal pneumothorax
peripapillary chorioretinal atrophy
broad middle bone of middle finger
abnormality of lens shape
short phalanx of finger
bullet-shaped proximal phalanges of the hand
short pinky finger
chronic bronchitis
amyoplasia
decreased width of pharynx
duplication of the proximal phalanx of the hallux
fused nails
upturned corners of mouth
decreased urinary catecholamine concentration
microalbuminuria
basal encephalocele
anomaly of the hypophysial fossa
partial duplication of the outermost bone of the middle finger
missing primary mandibular central incisor
abnormal qrs voltage
narrow foramen obturatorium
triggered by cold
thickened palms and soles
webbed 1st-3rd toes
multiple pulmonary infections
chronic sinus disease
nappy hair texture
braindruse
snail ear
respiratory failure
simple, cup-shaped ears
broad little toe
wide septum of nose
arterial tortuosity
patchy sclerosis of the middle phalanx of the 4th finger
abdominal distention
curved phalanges of the 4th finger
reticular pigmentary degeneration
absent innermost bone of the 4th toe
hypercalcaemia
hypercalcification of skull base
hypoceruloplasminaemia
fragmentation of the epiphysis of the proximal phalanx of the 2nd finger
triangular end part of the middle hand bones
nyctalopia
underdeveloped spinal processes
abnormal timing of pattern reversal visual evoked potentials
duplication of bones of the toes
absent/underdeveloped ankle bone
double thumb distal phalanges
down slanting palpebral fissures
proximal tubulopathy
deuteranopia
epidural hemorrhage
broad philtrum
tremor of limbs
triangular epiphysis of the proximal phalanx of the hallux
obsolete short proximal phalanx of the ring finger
fused innermost bone of pinkie toe
fullness of lower eyelid
early onset of puberty in males
abnormality of the choroid
prominent nipples
yellow subcutaneous tissue covered by thin, scaly skin
increased c peptide level
increased size of nasopharyngeal adenoids
supernumerary tooth
single interphalangeal crease of fifth finger
hypotrophic upper eyelid
reduced intraabdominal adipose tissue
osteolytic defects of the phalanges of the hallux
short proximal phalanx of the fifth finger
abnormality of iris blood vessels
abnormality of mandible symphysis
maternal hypertension
abnormal location of hair swirl
optic nerve compression
infections, recurrent
obsolete concentric narrowing of visual field
enlarged epiphyses of the 4th toe
elbow contracture
dysmyelination of the brain
short corpus callosum
bullet-shaped phalanges of the 3rd finger
posterior fossa cyst at the fourth ventricle
finger agnosia
heberden's node
underdevelopment of lower eyelid
increased connective tissue
poliosis
shortening of all distal phalanges of the fingers
aplasia/hypoplasia of the phalanges of the thumb
granulovacuolar degeneration
slender radius
hypertrophied alveolar ridge
facial agnosia
triangular end part of the outermost bone of pinkie finger
late eruption of milk teeth
recurrent mycobacterium avium complex infections
restrictive partial external ophthalmoplegia
abnormal shape of brain
abnormality of buccal mucosa
decerebrate rigidity
muscle atrophy, lower limb, distal
hypoplastic/small proximal phalanx of the 4th finger
hypertrophy of calvarial bones
obsolete laterally deviated terminal thumb phalanx
hypoglossia
droopy eyelid skin
medial thinning of eyebrow
infantile glaucoma
cavernous hemangioma of the face
frontoparietal polymicrogyria
mitochondrial lysine transport defect
absence of molar
episodic fatigue
myopathic facial appearance
aplasia of the distal phalanx of the thumb
respiratory muscle weakness
schizencephaly
patchy sclerosis of the proximal phalanx of the 2nd toe
factor x activation deficiency
camptodactyly of the 5th toe
abnormal number of b cells
autoamputation of foot
persistent hyperplasia of primary vitreous
pseudoexfoliation
hypermethioninemia
skull defect
myxomatous mitral valve degeneration
apodia
perioral dermatitis
ageneis of nasal septal cartilage
hypercoagulability
abnormality of end part of the innermost bone of the little finger
abnormality of the 2nd finger
small heart
abnormal protein glycosylation
absent trapezium bone
pseudoepiphysis of the distal phalanx of the 3rd toe
open cranial sutures
spurred ulnar metaphysis
decreased ncv
neurosarcoma
unilateral pulmonary agenesis" exact [] {comment="utoronto:chum
short shaft of long bone
telangiectases of the cheeks
short palatine uvula
subdural hemorrhage
mesomelic limb shortening
notched long bone in upper arm
areflexia of lower limbs
hyperplasia of labia majora
abnormality of abdominal situs
enamel abnormality
localised
abnormality of the distal phalanx of the thumb
short middle bone of pinkie toe
complete duplication of the distal phalanx of the 4th toe
testicular mesothelioma
swelling of proximal interphalangeal joints
absent innermost 2nd toe bone
muscular hypertrophy of the calf muscles
absent innermost ring finger bone
blockage of nose
decreased erg amplitude
sudden loss of muscle tone
lesser trochanter hypoplasia
5-minute apgar score of 5
anomaly of nasal base
absent end part of thumb outermost long bone
sleep apnea
irregular end part of the middle bone of the pinkie finger
mineralocorticoid insufficiency
biliary dyskinesia
dysharmonic delayed bone age
cerebral white matter abnormalities
abnormality of the upper jaw bones
extra bones within cranial sutures
irregularly spaced teeth
rhizomelic short stature
multifocal atrial tachycardia
glucocortocoid-insensitive primary hyperaldosteronism
abnormality of eosinophils
patchy sclerosis of 5th toe phalanx
absent/underdeveloped 5th long bone of foot
mitral atresia
erectile dysfunction
aplasia cutis congenita on trunk or limbs
osteoarthritis of the first carpometacarpal joint
hematuria
skin photosensitivity
anal canal adenocarcinoma
duplication of phalanx of 2nd finger
absent tonsils
bleeding from the eye
missing first permanent molar
absence of acoustic middle ear muscle reflexes
unequal skull shape
abnormal cartilage collagen
abnormality of the epiphyses of the thumb
abnormal kidney artery
antenatal onset
cone-shaped epiphysis of the proximal phalanx of the 4th finger
floppy neck
bracket shaped end part of the middle bone of the pinky toe
small odontoid process
cardiac hemangioma
devil ear
increase in size of half of face
fine hair
decreased mean platelet volume
emg: impaired neuromuscular transmission
facial hemiatrophy
abnormal pns synaptic transmission
retinal artery occlusion
speed of onset
finger clubbing
psychomotor degeneration
hiatal hernia
cholestatic liver disease
tetraplegia
fragile hair
ambiguous external genitalia at birth
absent ankle bone
agenesis of ethmoid sinuses
cervical kyphosis
prominence of the primary palate bone
decreased serum insulin-like growth factor 1
mandibular hyperplasia
long distal phalanx of finger
aplasia/hypoplasia of the clavicles
absent epiphyses of the fingers
thoracic scoliosis
marginal corneal dystrophy
abnormality of the choroid plexus
prune belly
amyotrophy involving the thigh
urogenital abnormalities
metatarsal osteolysis
somnolent facial expression
abnormality of zygapophyseal joint
conjunctival vascular congestion
abnormal morphology of the limbic system
plantar hyperkeratoses
preauricular fibroepithelial polyp
kalnienk vision
reduced bone mineral density
toxemia of pregnancy
white pupillary reflex
lack of skin elasticity
abnormality of cartilage of external ear
partial duplication of the 1st metatarsal
tapered toe
aplasia of the vagina
increased thickness of cranial vault
myocardial calcification
liver dysfunction, mild
prominent area between the eyebrows
reduced muscle carnitine level
short toe
tracheobronchmegaly
tonsillitis
thin clavicles
obsolete radially pointed middle finger phalanges
anti-glutamic acid decarboxylase antibody positivity
decreased size of bone of forehead
pilonidal fistula
cystoid macular edema
conductive hearing loss, moderate
increased respiratory rate or depth of breathing
extra rows of eyelashes
prominent median palatal raphe
hypertrophy of the lower limb
hyperpigmented nevi and streak
kernicterus
widened vesitbular aqueduct
three rows of eyelashes
mottled skin coloring
abnormal serum iron
reduced aldolase level
abnormality of circulating fibrinogen
abnormality of alveolar margin
abnormality of end part of the middle bone of the middle finger
malaligned philtral columns
commissural labial pits
increased bone density of end part of the pinky finger
hyperplasia of cheeks
absent eyelashes
limited interphalangeal movement
hypoplastic/small fingers
sleep dysfunction
aplasia of the musculature
lung fibroma
periorbital wrinkling
abnormal sex determination
bracket epiphyses of the thumb
everted lips
patent tuba eustachii
difficulty walking up stairs
cyst of the central nervous system
absent/small outermost index finger bone
abnormality of pineal morphology
hypotonia, severe
rhegmatogenous retinal detachment
flat distal femoral epiphysis
high blood insulin levels while fasting
short iliac bones
thick anterior alveolar process of jaw
macular hypopigmentation
bullet-shaped middle phalanx of the 4th toe
left ventricular impairment
large kidney
curvature of outermost bone of pinky finger
'onion bulb' formations
low hdl-cholesterol
increased bone density in the outermost bone of the thumb
absent/small vetebrae
episodic dystonia
total absence of all teeth
honeycomb retinal degeneration
autosomal recessive
agenesis of maxillary premolar
abnormality of head blood vessel
bullet-shaped middle bone of index finger
bilateral clubfeet
short lower limbs
increased bone density of end part of the innermost ring finger bone
long uvula
frequent upper respiratory infections
triggered by monthly period
absent leukocyte alkaline phosphatase
vertical elongation of face
glyoxalase deficiency
reduced corneal reflex
rhizomelic arm shortening
bifid ureter
episodic supraventricular tachycardia
absent epiphyses
transposition of the great arteries with intact ventricular septum
impaired thermal sensitivity
absent/underdeveloped collarbone
short first metatarsal
cirrhosis
abnormality of the common carotid artery
exanthem
aplasia/hypoplasia of the musculature of the pelvis
igg deficiency
angioectasia of nasal mucous membrane
chromosome breakage
hypoplasia of the 3rd metatarsal bone
abnormality of skeletal muscle fiber size
tumor of oral cavity
abnormality of the epiphysis of the proximal phalanx of the 4th finger
asymmetry of face
macrothrombozytopenia
glandular hypospadias
hyperlordosis
pelvic girdle muscle weakness
generalized cerebral atrophy/hypoplasia
decreased length of columella
decreased subcutaneous adipose tissue
asymmetry of the mouth
peptic ulcer
giant cell tumor of bone
hashimoto's thyroiditis
narrow interpediculate distances
digital fibrous tumor of reye
hyperphalangy of index finger
anuria
mild fetal ventriculomegaly
reduced antithrombin iii activity
low placental alkaline phosphatase
abnormality of the end part of the outermost bone of the pinkie toe
dural ectasia
lack of fatty tissue below the skin
unerupted permanent dentition
abnormal visual electrophysiology
dilatation of the aortic arch
wide pubic symphysis
curved proximal phalanx of the 4th toe
decreased muscle tone in infant
abnormality of the epiphysis of the 2nd metacarpal
bitemporal forceps marks
abnormality of the dental root
mesenteric cyst
eyelids stay open due to scarring
retinoblastoma
bullet-shaped middle little finger bone
abnormal multifocal electroretinogram
diffuse muscle atrophy
hypoplastic/small proximal phalanx of the 5th finger
carcinoma
vaginal hematocele
renal calcium wasting
acute necrotizing encephalopathy
triangular head shape
focal clonic seizures
moderate postnatal growth retardation
thin proximal phalanges with broad epiphyses of the hand
small palpebral fissures
obsolete involuntary writhing movements
complete duplication of the middle phalanx of the 2nd toe
restless legs syndrome
abnormality of lateral pterygoid muscle
recurrent bronchiolitis
1-4 toe syndactyly
biliary hyperplasia
optic-nerve degeneration
fragile skin
fused innermost bone of the 4th toe with 4th long bone of foot
absence of globes of eyes
failure of development of mandible
fractured radius
bone infection due to immunodeficiency
decreased mobility 3rd-5th fingers
persistent cavum septum pellucidum
limited mandibular mobility
bullet-shaped innermost finger bones of the hand
diffuse leukoencephalopathy
increased serum zinc
fusion involving 1st long bone of hand
long outermost bone of finger
fallopian tube duplication
end stage renal disease
irregular epiphysis of the distal phalanx of the 2nd finger
decreased von willebrand factor
microangiopathic hemolytic anemia
absent ray
fibrous hamartoma
episodic infantile hypoglycemia
ichthyotic skin
irregular wide portion of long bone in upper arm
post-transfusion thrombocytopenia
enlarged foramen magnum
cystic macular degeneration
paragangliomas, head and neck
confusion
lower limb pain
puffiness of lower eyelid
hypopigmented streaks
enlarged internal auditory canal
chronic ear infection
fractured hair
hypoplastic phalanges of the little finger
preterm intraventricular hemorrhage
deformity of the skull
webbed penis
benign gastrointestinal tract tumors
abnormality of circulating enzyme level
underdeveloped cerebrum
flattened head of long bone of foot
absent end part of the 3rd toe
h-type rectovestibular fistula
irregular epiphysis of the middle phalanx of the 3rd toe
elongation of face
hematoperitoneum
abnormal respiratory system morphology
abnormality of folate in blood
malformation of the nasal ala
emg: neurogenic abnormalities
fullness of columella
preauricular tags
herniation of intervertebral nuclei
extra cranial suture
rocker-bottom feet
pinhole visual acuity 2.0 logmar
retinal fold
reduced collagen 6 in muscle
terminal symphalangism
elevated tissue non-specific alkaline phosphatase
underdeveloped parathyroid glands
red-weak
diffuse nuclear cataract
distal arthrogryposis
delayed menarche
coralliform cataract
palate telangiectasia
severe delay of eruption of adult teeth
ventricular flutter
multiple rib fractures
seizures, generalized, associated with fever
absent end part of the little toe bone
chevron-shaped/cone-shaped radial epiphyses
leg paralysis
impaired galactose metabolism
choroidal vessel sclerosis
fibular metaphyseal irregularity
s-shaped calf bone
muteness
macular cotton wool spots
palatal hole
corneal clouding
complete duplication of the middle little finger bone
abnormality of polymorphonuclear neutrophils
blood clot in artery
abnormality of the intervertebral disk
codfish vertebrae
underdevelopment of facial skeleton
chronic active hepatitis
aplasia/hypoplasia of the vagina
abnormality of joint mobility
lethal in infancy
high-frequency hearing impairment
modic type 1 vertebral endplate changes
aplasia of the labyrinth
bilateral sensorineural hearing loss
gingival synechia
transverse hypoplasia of maxilla
hereditary nonpolyposis colorectal carcinoma
curved distal phalanx of the hallux
decreased nasal width
underdevelopment of primary teeth
congenital adrenal hypoplasia
hemiglossal hypertrophy
perifollicular inflammation
junctional split
hand polydactyly
small epiphyses of the metacarpals
partial duplication of the little finger bone
high white blood count
cerebral calcification, nonarteriosclerotic
contractures
pseudoepiphysis of the proximal phalanx of the 4th toe
hypointensity of cerebral white matter on mri
decreased size of nasal bone
increased serum insulin-like growth factor 1 {comment="hpo:probinson"}
neurologic deterioration
low frustration tolerance
long q-t syndrome
abnormal nucleoside levels
vitreous inflammatory cells
speckled calcifications in end part of the outermost bone of little finger
adrenal gland dysplasia
adenocarcinoma of the large intestine
absent ossification/absent epiphysis of terminal index finger phalanx
absent/small eye
absent end part of the innermost bone of the pinky toe
onycholysis of fingernails
underdevelopment of tooth bud
bilateral lung agenesis
submucous labial cleft
progressive loss of anterior horn cells
atrial premature complex
stereotypy
impaired smooth pursuit ocular movements
unilateral chest hypoplasia
narrow chest
lower eyelid coloboma
myotonia of the upper limb
cone dysfunction syndrome
small wings of the pelvic girdle
recurrent rectal bleeding
failure of development of nose
obsolete mildly reduced visual acuity
patchy sclerosis of the distal phalanx of the 4th finger
hemarthrosis
shallow acetabula
reticular hyperpigmentation
renal aplasia/hypoplasia
enlarged epiphysis of the proximal phalanx of the 5th toe
cone-shaped epiphysis of the distal phalanx of the 2nd toe
dysharmonic accelerated bone age
eeg with spike-wave complexes
unilateral conductive hearing impairment
kinked brain stem
abnormality of the systemic arterial tree
cutis marmorata
increased bone density in the innermost bone of the little toe
secondary adrenal insufficiency
increased muscle lipid content
platelet antibody
abnormality of cells of the megakaryocyte lineage
irregular visual pursuit movements
abnormality of gum ridge
deficiency of lower jaw
irregular wrist bones
acromegaly
hypokalemic alkalosis
chess-pawn distal phalanges
kaposi's sarcoma
uneven increase in bone density in the innermost bone of the ring finger
pituitary disease
partial duplication of the distal phalanx of the fifth toe
hypoplasia of the semicircular canal
decreased vertical dimension of philtrum
heat intolerance
urinary tract infections, recurrent
abnormality of radial diaphysis
abnormality of polysaccharide metabolism
flexion contractures of hips
failure of development of the primary palate bone
thyrotoxicosis with toxic single thyroid nodule
partial-total agenesis of corpus callosum
abnormality of the lumbar spine
nail bed telangiectasia
premature atherosclerosis
muscular subvalvular aortic stenosis
epithelial corneal erosions
cone-shaped end part of the outermost bone of the middle finger
abnormality of the ribs
limb-girdle muscle atrophy
global proximal tubulopathy
philtrum, midline raphe
hypercitraturia
valgus foot deformity
elevated apolipoprotein a-iv level
hypopnea
high plasma sarcosine levels
hypoplastic nipples
scrotum tumor
abnormality of the inner vaginal lips
embryonal neoplasm
partial/complete duplication of the phalanges of the hallux
ground glass opacity of humeral diaphysis
curved phalanges of the hand
short distal phalanx of the 2nd finger
hypoplastic lacrimal puncta
polysyndactyly of big toe
adenocarcinoma of the colon
eeg: focal slow activity
oxalate nephrolithiasis
progressive hearing loss
flared lower limb metaphysis
abnormality of the fibula
early bone maturation
chronic pain
torn retina
abnormality of the microglia
underdeveloped optic tract
triangular end part of the middle bone of the ring finger
extrapyramidal dysfunction
bitemporal narrowness
uneven increase in bone density in the outermost pinkie toe bone
fallopian tube carcinoma
chin, vertical crease
aplasia/hypoplasia involving the musculature of the extremities
abnormality of the jejunum
corneal neovascularization
spinal muscle degeneration
low-output congestive heart failure
reduced lymphocyte surface expression of sialophorin
hip subluxation
abnormal number of lymphocytes
stippling of the epiphysis of the middle phalanx of the 3rd toe
cone-shaped capital femoral epiphysis
rounded columella
decreased serum alkaline phosphatase
hemimegalencephaly
increased diameter of foramen magnum
death in early adulthood
abnormality of the end part of the 4th long bone of hand
abnormal liver
limb shortening
acute sinusitis
polysplenia
extra cartilage in front of the ear
increased bone density
abnormal dark-adapted dim flash electroretinogram
macrostomia
enlarged longitudinal cerebral fissure
short nails
synostosis involving tarsal bones
abnormality of spacing of front teeth
triangular shaped innermost bone of middle finger
proximal finger joint hyperextensibility
hyperdontia
spontaneous pain sensation
hypoplastic inferior pubic rami
abnormal extraocular movements
entropion
desmoid tumors
decreased length of condylar process of mandible
attention deficit disorder
jejunal diverticula
fixed facial expression
neoplasia of the pancreas
abnormality of tooth structure
triangular end part of the outermost bone of the 2nd toe
visual agnosia
auditory auras
fibrosarcoma
absent hair
inability to close the eyelids due to scarring
palatal perforation
ear, grade ii dysplasia
pyramidal tract dysfunction
limited mobility of innermost hinge joint
hamartomatous polyposis
anterior synechiae of the anterior chamber
t2 hypointense thalamus
46,xy gonadal dysgenesis
inner ear tumor
eeg: localised low amplitude activity
hypertrophy of midface
corneal ulcer
bronchomalacia
pulmonary venolobar syndrome
white hair
stroke
flattened knee epiphyses
small end part of the middle bone of the 2nd toe
shallow philtrum
fetal megacystis
delayed ossification proximal femoral epiphyses
cerebral paralysis
sclerosis of the middle phalanx of the 5th finger
postnatal microcephaly
dysmorphic forehead
reduced muscle fiber perlecan
decreased size of lower jaw
broad innermost pinkie finger bone
cyst of eye socket
lower-limb metaphyseal irregularity
fragmentation of the end part of the little finger bones
congenital peripheral neuropathy
aplasia involving bones of the extremities
accessory nipple
diffusely thickened skin
fibrofolliculoma
slow rate of hair growth
malformation of the nasal bones
radiohumeral synostosis of elbow
contracture of the outermost hinge joint of the 5th toe
aplastic/hypoplastic tarsals
agenesis of primary mandibular central incisor
glucagonoma
decreased plasma free carnitine
cerebral vascular events
tethered cord
shell teeth
partial unilateral facial paresis
childhood onset short-limb short stature
glial remnants anterior to the optic disc
spoon shaped thumbs
bullet-shaped distal phalanx of the 4th finger
shortening of upper lip
osteosclerosis of bones
umbilical vein varix
iris neovascularization
eeg with photoparoxysmal response grade i
thimble-shaped middle bones of hand
complete duplication of the middle bone of the middle finger
underdeveloped optic nerves
imperforate hymen
dappled metaphyseal sclerosis
difficulty walking
high maternal serum hcg
paroxysmal dyskinesia
decreased level of plasminogen
hypoplastic/small distal phalanx of the 4th finger
prolonged bleeding after minor trauma
hairy elbow syndrome
interstitial pulmonary disease
orbital cysts
detachment of outermost fingernails
hyperaesthesia
gastrointestinal tract neoplasm
absence of maxillary central incisor
early loss of secondary dentition
micromandible
inward turned thumb
hypoplastic distal radial epiphyses
molarization of bicuspid
absent palatine uvula
intrauterine fetal demise of one twin after midgestation
distal sensory loss to all modalities
complete duplication of the innermost bone of the pinkie toe
pseudoepiphyses of middle phalanx of middle-finger
abnormality of nasal mucous membrane
curved outermost bone of the 3rd toe
premature epimetaphyseal fusion in ulna
sinus of valsalva aneurysm
fused middle bones of pinky finger
ski jump nose
abnormality of corneal stroma
stiff knee
uric acid urolithiasis
triangular shaped distal phalanx of the 4th finger
progressive loss of vision
lack of eyebrow curvature
myalgia
cystic artery pseudoaneurysm
webbed third, fourth and fifth toes
aplasia of upper eyelashes
abnormal liver enzymes
urinary tract neoplasm
abnormality of the end part of the outermost bone of the 3rd toe
hyperostosis of craniofacial bones
short metacarpals
partial/complete duplication of the phalanges of the 2nd toe
vertebral fusion
osteolytic defects of the distal phalanx of the 3rd toe
abnormal cone-mediated electroretinogram
wide end part of innermost thighbone
immunoglobulin abnormality
abdominal distension
brown eyelids
anti-mnd antibodies
cri de chat-associated cry
dense metaphyseal lines
frequent infections
autonomic erectile dysfunction
cone-shaped epiphyses of middle phalanges
falls
cloverleaf cranium shape
abnormal distribution of retinal arterioles and venules
decreased size of the clitoris
prone to bacterial infection
infra-aortic superior vena cava
palatal torus
increased creatine kinase
abnormality of bone calcification of cranium
behavioral/psychiatric abnormalities
posterior radial head dislocation
anomaly of the pulmonary valve
periorbital melanosis
deviated nasal septum
muscle hypertrophy
urachal cyst
onycholysis of toenails
abnormal sensory nerve conduction velocity
partial agenesis of the corpus callosum
congenital melanosis bulbi
abnormality of metatarsal epiphysis
increased width of nose
median prosencephalic arteriovenous fistula
increased bone density of end part of the outermost ring finger bone
prostate neoplasm
wasting of thigh muscle
peripheral visual field constriction with >50 degrees central field preserved
cavernous hemangioma
small radial head
angulated long bone in upper arm
agenesis of a tooth
infective endocarditis
absent/underdeveloped central nervous system tissue
discolored front teeth
anomaly of dental eruption
single coronary artery origin
small epiphysis of the distal phalanx of the 3rd finger
late onset baby eczema
clinodactyly of the 3rd toe
rimmed vacuoles
coarse facies
delta-shaped epiphyses of the 3rd finger
congenital macrocephaly
frontotemporal dementia
thick tissue around the nose
short outermost bone of toe
abnormality of the arachnoid mater
antenatal intracerebral hemorrhage
sclerosis of hand bone
anomalous coronary artery course
abnormal plasma aldosterone
left ventricular wall hypertrophy
small zygomatic bone
narrowing of windpipe
neoplasm by histology
abnormality of internal jugular vein
herpetiform
progressive ptosis
anterior segment dysgenesis
aplastic/hypoplastic phalanges
mandibular retrusion
coagulation abnormality
agenesis of adult mandibular central incisor
inflammatory arteriopathy
cns infection
ventilator dependence with inability to wean
philtrum, midline sinus
very rare (&lt;4-1%)
hypofibrinogenemia
neoplasm of the thyroid gland
triangular shaped 3rd toe bones
modic type 3 vertebral endplate changes
hypoplasia of mandibular condyle
intellectual disability
aplasia of the left hemidiaphragm
abnormality of the cerebral medulla
absent/small ribs
enlargement of the proximal femoral epiphysis
thin, sparse eyebrows
complete duplication of the pinky finger bone
poor bladder function
abnormality of the epiphysis of the distal phalanx of the 2nd finger
triangular shaped outermost pinky finger bone
sloping forehead
dislocated radioulnar joints
unaided visual acuity 2.0 logmar
flattening of alveolar margin
broad fingers
low serum 25-hydroxycholecalciferol
mixed hypo- and hyperpigmentation of the skin
abnormality of the pinky toe bones
abnormal cellular phenotype
pheochromocytoma, extraadrenal
tapered phalanx of finger
malrotation of the small intestine
abnormality of the thumb bones
high urinary gonadotropin level
abnormal hand bone ossification
motor conduction block
branchial abnormality
mini stroke
naso-frontal encephalocele
hemiglossal hyperplasia
increased size of alveolar ridge
abnormal brain fdg positron emission tomography
episodic paralysis
increased plasma acth
absent scaphoid
partial/complete duplication of little finger bone
exstrophy
calvarial skull defect
hypoplasia of forehead
increased serum testosterone levels
sclerosis of the distal phalanx of the 2nd toe
congenital giant melanocytic nevus
macroclitoris
small epiphyses of the 2nd finger
spinal tumor
hutchinson's incisor
dental diastasis
x-linked inheritance
optic nerve hypoplasia
abnormality involving the epiphyses of the lower limbs
hypophosphatemic rickets
duplication of the distal phalanx of the fourth toe
urethral diverticulum
rhonchi
postnatal growth failure
deformity of cartilage of nose
absent/small sternum
short little finger
lip lentigo
carnitine levels abnormal
sparse lateral eyebrows
sun sensitivity
underdeveloped muscle
abnormality of the cervical blood vessels
rod monochromatism
lumbosacral hirsutism
unaided visual acuity 0.9 logmar
pituitary adenoma
hodgkin disease
reduced ejection fraction
absent ocular muscles
upturned mouth
dysmorphic facies
pain in the ear
cachexia
congenital cerebellar hypoplasia
abnormality of the trigeminal nerve
abnormal level of paf
delayed closure anterior fontanel
orange discoloured tonsils
impaired touch localization
patchy reduction of bone mineral density
priapism
absent/small uterus
unfavorable response of muscle weakness to acetylcholine esterase inhibitors
increased serum iduronate sulfatase
abnormal respiratory motile cilium physiology
hypoplastic radii
broad middle phalanges of the hand
full lower lip vermilion
taste hallucinations
platyspondyly, extreme
paralysis
bronchitis
contractures of the metacarpophalangeal joint of the thumb
oat cell carcinoma of lung
fusion involving the 5th long bone of hand
diaphyseal dysplasia
bracket shaped end part of the middle hand bones
cleft nasal bridge
preaxial hand polydactyly
curved middle bones of the toes
generalized increase in muscle cell size
osteochondroma
early loss of primary teeth
diaphyseal thickening
secretory diarrhea
mouth tumor
cone-shaped end part of the innermost bone of the 4th toe
poor toenail formation
stiff finger
abnormality of vitamin b12 metabolism
abnormality of ocular smooth pursuit
small wrist bones
prominent cupid-bow of upper lip
cone-shaped end part of the innermost bone of the middle finger
irregular hyperpigmentation
absent muscle fiber delta sarcoglycan
impairment of galactose metabolism
eeg with periodic complexes
spontaneous fractures
malar prominence
increased pigmentation around the mouth
decorticate rigidity
early fusion of cranial sutures
broad proximal phalanx of toe
fibular deviation of the 3rd toe
absent/small hand bones
diarrhea
anterior horn cell disease
short first metacarpal
enlarged pituitary gland
syndactyly 2nd-3rd fingers
contracture of the metacarpophalangeal joint of the 3rd finger
long bones slender
nerve tumor
cerebral artery stenosis
extra tooth in the midline
neoplasm of the parathyroid gland
hyperinsulinemia
bilateral
fused innermost bones of third toe with 3rd long bone of foot
absence of palatine bone mineralization
abnormal optical coherence tomography
malformation of the lower jaw bone
brachydactyly of third toes
malrotation of small bowel
aplasia of the proximal phalanx of the 5th finger
regional abnormality of skin
digitalization of thumb
atrial ectopic beats
small lower jaw
abnormality of serine family amino acid metabolism
recurrent pulmonary hemorrhage
abnormal light- and dark-adapted electroretinogram
freckling
convex dorsum of nose
nipple hypoplasia
prolonged prothrombin time
middle ear tumor
moderately increased serum creatine kinase
absent/underdeveloped middle bone of pinky finger
intraretinal hyporeflective spaces on macular oct
equinovarus
missing maxillary premolar
proliferation of bile canaliculi
prominent upper jaw
increased size of frontal region of face
brain inflammation
hypoplastic myelodysplasia
nephrosclerosis
commissural cheilitis
primary atrial arrhythmia
malformation of the neck
delayed bone age
attached earlobe
excess periorbital skin wrinkling
aneurysmal disease
overgrowth and curving of toenails
symmetrical, proximal limb muscle atrophy
pleuritis
recurrent chest infections
elevated circulating parathyroid hormone level
decrease in jaw mobility
emg: neurogenic findings
skin fragility with non-scarring blistering
autoimmune condition
nervous system cancer
color vision defect
dicarboxylic acidemia
myalgias
bifid epiglottis
delayed bone maturation of the knee cap
obsolete cataracts develop in second or third decade
fragmentation of end part of middle finger bone
abnormal motility of the globe of the eye
decreased thalamic volume
irregular end part of the innermost bone of the 2nd toe
global glomerulosclerosis
mental retardation
calcification of the soft-tissue around the shoulders
hypotrophy of the small hand muscles
mild and nonprogressive mental retardation
posterior pituitary agenesis
unilateral facial palsy
equinus calcaneus
keratoconus
asymmetric pelvis
blue cone monochromatism
partial duplication of the outermost bone of the fifth toe
renal hypophosphatemia
alpha-eeg
missing big toe
wilm's tumor
narrow mouth
amyotrophy involving the shoulder musculature
fusion of the long bones of the feet
pyramidal cataract
absent/underdeveloped ring finger bones
rod-cone dystrophy
absence of parotid duct
thin collarbone
unilateral paralysis of the vocal cord
increased bun
everted prominent upper lip
polydactyly affecting the 5th toe
pubertal delay
failure of development of all teeth
periosteal new bone of humerus
complete duplication of the outermost pinkie finger bone
short tibia
moderate low vision
complete anodontia
notched outermost bone of the thumb
complete duplication of the 2nd toe bones
quadriplegia, episodic
dilatation of the superficial abdominal veins
myerson's sign
oculosympathetic palsy
hypopigmentation of the fundus
aplasia of the inner ear
brittle nails
plump lower lip
curved 1st long bone of foot
broad cortex of long bones
complete duplication of the middle bones of the hand
large anterior fontanels
decreased size of nasal tip
islets of langerhans hypertrophy
hypopigmentation
1-5 finger complete cutaneous syndactyly
depressed tip of nose
speech impediment
abnormality of end part of the innermost bone of little finger
distal peripheral sensory neuropathy
acro-osteolysis of distal phalanges
osteoporosis of vertebrae
wrinkled skin of hands and feet
duplication of middle finger bone
bilateral coronal suture craniosynostosis
short 2nd metacarpal
acute lymphatic leukemia
pointed tooth
cartilaginous nasal ossification
mild conductive hearing impairment
renal tubular cell atrophy
angioid streaks of the retina
dislocation of hip
hemolytic anemia, chronic
renal failure, endstage
abnormality of the outermost pinkie finger bone
intermittent episodes of respiratory insufficiency due to muscle weakness
fragmented sleep
abnormality of shape of bicuspid
wide wrist bones
absent/small end part of innermost thighbone
labial telangiectasia
reduced visual accommodation
sclerotic humeral metaphysis with longitudinal striations
calcium oxalate urolithiasis
impaired right ventricular function
decreased size of facial bones
proximal placement of hallux
curved outermost bone of the toe
triangular epiphysis of the proximal phalanx of the 4th toe
excessive femoral anteversion
congenital craniofacial dysostosis
absent end part of the middle bone of the little finger
abnormality of the coronary arteries
absent/underdeveloped middle ring finger bone
absent right sided atrioventricular connection
abnormality of the hair
intolerance to protein
impairment of the the acoustic reflex
hemiatrophy of lower limb
elevated serum parathyroid hormone
neoplasm of the peripheral nervous system
flat eyebrow
abnormal levels of creatine kinase in blood
abnormal amplitude of pattern electroretinogram
altman type ii sacrococcygeal teratoma
rheumatoid factor positive
fatigable weakness of bulbar muscles
ectopic liver
patchy sclerosis of the middle phalanx of the 4th toe
decreased joint mobility
hyperprolinemia
dental enamel pitting
bracket shaped end part of the outermost bone of the index finger
hypoplasia of the frontal lobes
sleep walking
right aortic arch with aberrant left subclavian artery
absent middle phalanx of 2nd finger
decrease in mandibular opening
increased lumbar lordosis
eyelid fasciculation
triggered by sleep deprivation
increased tendency to fractures
hemiatrophy of the body
delayed closure of the soft spot on the skull
decreased smell sensation
absent urinary urothione
increased prevalence of valvular disease
renal cortical atrophy
duplication of phalanx of big toe
spinal fluid protein elevated
cat eye
nycturia
progressive conductive deafness
adhesion of upper and lower lips
short 4th metacarpal
restrictive respiratory insufficiency'
stork bite
spindle cell carcinoma of the tongue
abnormality of vertebral epiphysis morphology
hallucal duplication
enlarged liver and spleen
absent/small upper arm muscles
increased reflexes
stippling of the epiphyses of the 3rd toe
ocular proptosis
abnormal motor neuron morphology
mitral insufficiency
broad outermost bone of ring finger
narrow nose
abnormality of oral mucous membrane
mesenteric artery aneurysm
proximal lower limb amyotrophy
triangular shaped innermost bone of the ring finger
biliary tract disease
elevated alpha-fetoprotein
absent epiphysis of the middle phalanx of the 5th finger
akinesia
costiveness
asymmetric ventricles
paralysis of extraocular eye movement
narrow head shape
hand monodactyly
optic disk pallor
sclerosis of finger phalanx
abnormal metaphyseal trabeculation
large joint contractures
gastric diverticulum
speckled calcifications in the end part of the innermost bone of the little toe
thin calvarium
decreased light- and dark-adapted electroretinogram amplitude
ear, posterior angulation, increased
sclerosis of the middle phalanx of the 5th toe
bracket shaped end part of the outermost bone of the pinkie toe
chewing difficulties
chronic lymphocytic leukemia
enlarged epiphysis of the distal phalanx of the 3rd finger
decreased enamel mineralisation
capillary fragility
abnormal pec muscles
dizziness
irregular end part of the 1st long bone of foot
cloacal abnormality
sclerosis of the skull base
electrocardiographic short pr interval
increased bone density of end part of the middle ring finger bone
abnormal hair whorls
papules
delayed cns myelination
cone-shaped epiphyses
severe limb shortening
inflammation of iris
peripheral nerve damage
short middle bone of the little finger
thrombocytopenia
bone fusion involving the calf bones
absent/underdeveloped tear glands
cone-shaped end part of the 2nd toe bone
rhizomelic leg shortening
pineoblastoma
inner ear abnormality
stippling of the epiphysis of the distal phalanx of the 4th finger
ringing in the ears
central nervous system degeneration
bone marrow hypocellularity
respiratory arrest
tented upper lip
decreased palatal width
facial hemihypertophy
intervertebral disc degeneration
increased spinal bone density
abnormality of the elbows
penile melanosis
asymmetric, linear skin defects
sclerotic foci within carpal bones
abnormality of the globe
abnormality of calcium-phosphate metabolism
sepsis
triangular epiphysis of the middle phalanx of the 2nd toe
prominent mandible
double outlet right ventricle with non-committed ventricular septal defect without pulmonary stenosis
reticular pigmentation pattern
bladder diverticula
arcuate scotoma
anomaly of the nasal ridge
increased breadth of nasal bridge
lingual hypoplasia
iris degeneration
abnormality of the humeral heads
impaired gait
homocystinemia
abnormal feet morphology
dislocation of radial head
poorly formed palmar creases
single median incisor
isothenuria
abnormality of fatty acid anion
basal ganglia gliosis
partial duplication of the innermost bone of the pinkie toe
congenital atrioventricular dissociation
peg laterals
complete atrioventricular canal defect
shortening of the shankbone
prominent belly button
anomaly of the periauricular region
irregular metaphyses of the upper limbs
decreased size of cranium
sprengel deformity
rarefaction of the metaphyses
liver copper accumulation
hyperoralia
abnormality of the epiphysis of the proximal phalanx of the 2nd finger
abnormally small eyeball on one side
expanded metatarsals with widened medullary cavities
synovial sarcoma
abnormality of the humeroradial joint
premature delivery because of cervical insufficiency or membrane fragility
cupping of wide portion of long bone of hand
low muscle tone, in neonatal onset
distal foot symphalangism
hypercortisolism
abnormality of tear production
elevated red cell adenosine deaminase activity
left aortic arch with right descending aorta and right ductus arteriosus
accessory nipples
short third metacarpals
cardiac conduction defects
sawtoothed acanthosis
thickening of the calvaria
impairment of fructose metabolism
triggered by excitement
severe farsightedness
multiple palm lines
osteolytic defects of the 1st metatarsal
green-blind
thickening of connective tissue of innermost finger bone
red-green dyschromatopsia
long-chain dicarboxylic aciduria
red face
premature occlusive vascular disease
leukonychia
megalocornea
dysplastic nevus
subchorionic thrombohematoma
tetany
multiple diastemata
smooth dorsum of tongue
conical microdontia
pruritis
curved proximal phalanx of the 5th finger
abnormality of limb bone morphology
absent vestibular function
osteolytic defects of the middle phalanx of the 2nd finger
decreased scrotal rugation
night blindness, congenital stationary
woolly scalp hair
increased basal angle of skull base
distal tibial bowing
increased heart rate
hepatocellular adenoma
uninodular goiter
aciduria
elevated serum ferritin
genital ulcers
abnormality of end part of the innermost bone of pinkie finger
heteronymous hemianopsia
impairment of the reflex of the tensor tympanii muscle
bilateral lambdoid suture synostosis
pulp canal obliteration
abnormal serum immunoglobulin concentration
failure of development of maxillary incisor
triangular end part of bone
short middle 2nd toe bone
aplasia/hypoplasia involving the musculature of the upper limbs
intestinal hypoplasia
pancreatic lymphangiectasis
slit-like opening of the exterior auditory meatus
thin glomerular basement membrane
y-shaped long bone of foot
xerosis
epidermal nevi
abnormal adrenal gland position
plump upper lip
foveal hyperpigmentation
deafness
curved innermost bone of middle finger
freckled genitalia
patchy sclerosis of the phalanges of the 3rd toe
lateral hypoplasia of eyebrows
large tip of nose
multiple exostoses of long tubular bones
crh deficient adrenal insufficiency
short columella
multidrug-resistant nephrotic syndrome
short long bone of foot
eyelid folded in
abnormality of glutes
elevated urinary delta-aminolevulinic acid
downbeat nystagmus
abnormality of levator veli palatini muscle
orthostatic hypotension
diffuse telangiectasia
esophageal varices
areflexia of the lower limbs
congenital alopecia totalis
extra hair swirls
abnormal facility in opposing the shoulders
polymicrogyria
eyelash abnormality
cone-shaped end part of the innermost bone of pinkie finger
small bregma sutures
wide bridge of nose
premature epimetaphyseal fusion in foot
atrioventricular block
abnormal pupil shape
partial duplication of the innermost bones of the hand
wide fibula
cuboid-shaped thoracolumbar vertebral bodies
altman type iii sacrococcygeal teratoma
atrial fibrillation
patchy sclerosis of the distal phalanx of the 5th toe
reduced upper to lower segment ratio
congestion of nose
palate exostoses
absent bones of the 4th toe
absence of lateral incisor
distal urethral duplication
partial duplication of the proximal phalanges of the hand
abnormality of the nephron
glomus tympanicum paraganglioma
renal cortical cysts
wide neck of thigh bone
syringomyelia
positive gower sign
progressive foveal dystrophy
high vaulted palate
decreased length of lower eyelashes
emg: myopathic changes
eyelid turned in
radial club hand
anterior flat head syndrome
cone-shaped end part of the innermost bone of the 2nd toe
narrowing of the esophagus
lower limb asymmetry
pointed wide portion of long bone of upper arm
disproportionately large hands
renal sodium wasting
underdevelopment of facial bones
greyish enamel
language delayed
abnormality of the palpebral fissures
temporomandibular joint noise
inguinal freckling
submucous clefting
conal ventricular septal defect
congenital partial leucoderma
upper respiratory tract infections
vertebral collapse
absent epiphyses of the 2nd toe
duplication of finger bones
paleness
hypoplasia of the middle phalanges of the hand
perioral eczema
notched outermost bone of big toe
macrodontia
anisocoria
iron accumulation in brain
decreased miniature endplate potentials
increased serum estriol
sweating profusely
short outermost bone of the 3rd toe
subungual hyperkeratosis
abnormality of the middle phalanx of the 3rd finger
intrauterine growth failure
duodenal aganglionosis
slender shaft of long bone in upper arm
bowing of the distal tibia
molluscoid pseudotumors
abnormality of the breast
deformity of the nasal alar cartilage
enlarged end part of the 2nd toe bone
decreased size of pharynx
basal ganglia disease
obsolete facial diplegic appearance
triggered by sodium intake
type 3 lissencephaly
seizures, tonic-clonic, photosensitive
uncombable hair
hypoglycemia, hypoketotic
nonprogressive course
extrapyramidal signs
restrictive behavior, interests, and activities
imbalanced hemoglobin synthesis
abnormality of pharyngeal musculature
thoracic hypertrichosis
keratin cyst
abnormality of the calf musculature
oculomotor abnormalities
hyperemesis gravidarum
gerd
bracket shaped end part of middle finger bone
horizontal supranuclear gaze palsy
abnormality of the end part of the outermost bone of the ring finger
bullet-shaped proximal phalanx of the thumb
corpus cavernosum sclerosis
psoriasis
breus' mole
aplasia/hypoplasia of the tongue
fleischer's ring
missing one kidney
sacral hypertrichosis
abnormality of the pulmonary vasculature
large basal ganglia
delayed eruption of primary teeth
cerebellar hemangioblastoma
halitosis
missing canine
abnormal movement of the globe of the eye
cupped metaphyses of hand bones
short index finger
abnormality of the protein c anticoagulant pathway
abnormal innermost big toe bone
absent outermost bone of the pinkie toe
maxillary macrognathia
dumbbell shaped metaphyses
decreased corneal diameter
bronchial atresia
fragmentation of the epiphysis of the proximal phalanx of the 3rd toe
unilateral aplasia of pectoralis major muscle
tufted hemangioma
impaired breathing in newborn
skin pit
neoplasm of the nail
high arched palate
obsolete choroidal sclerosis
cone-shaped epiphysis of the proximal phalanx of the 3rd finger
turricephaly
broad nasal dorsum
osteolytic defects of the outermost bone of the 5th toe
sebaceous cyst
neoplasm of the paranasal sinuses
obsolete abnormal dermatological laboratory findings
abnormality of the tonsils
fused outermost bones of toes
conjunctival hyperemia
failure of development of condylar neck of mandible
corpus callosum agenesis, partial
wide dorsum of nose
decreased amount of facial adipose tissue
progressive flexion contractures
abnormality of the phalanges of the hallux
cicatricial lagophthalmos
nasal underdevelopment
ovarian disease
wasting of limb-girdle muscle
abnormality of the fetal circulation system
patellar hypoplasia
short lower eyelid
abnormal tongue morphology
amyotrophy involving the musculature of the hand
poor head control
abnormality of the optic nerve
lingual aplasia/hypoplasia
profound
ischemic stroke
vertical facial excess
absent crus of helix
'curvilinear profiles' ultrastructurally in cells
chylopericardium
everted lower lip vermilion
xanthoma of eyelid
abnormality of mouth shape
obsolete diaphoresis (with pheochromocytoma)
wilms tumor
abnormal liver lobulation
low-grade fever
abnormal muscle fiber gamma sarcoglycan
delayed skeletal maturation
prolonged g2 phase of cell cycle
weakness of facial musculature
sudomotor sympathetic dysfunction
dental overcrowding
hematemesis
interstitial lung disease
fusion of long bones of hand/long bones of foot
acetylcholine receptor antibody positivity
overlapping fingers
neuronal migration disorder
unequal size of opening between the eyelids
abnormal urinary sulfate concentration
hypoplasia of the toe
omega shaped pituitary fossa
abnormality of the lymphatic vessels
enlarged proximal interphalangeal joints
lamellar cataract
geophagy
abnormal spatial orientation of the cardiac segments
flattened, squared-off epiphyses of tubular bones
absent/small gallbladder
giant conjunctival papillae
hypotriglyceridemia
hypoplastic thumbs
steep acetabular roof
silver-gray hair color
complete duplication of the little finger bone
polygonal-shaped calices
decreased plasma total carnitine
peripheral sensory neuropathy, distal
glomus vagale tumor
congenital horizontal nystagmus
dislocated radial head
decreased size of nerve terminals
cone-shaped end part of the outermost bone of the index finger
secretory iga deficiency
overhanging nasal tip
postaxial polysyndactyly of foot
reduced factor ii activity
tender
mediastinal lymphadenopathy
broad hand
ekg abnormality
endocrine neoplasia
severe hydrops
involuntary movements
lipomas of upper lids
hyperthermia, episodic
10 pairs of ribs
undulate clavicles
abnormal shape of the occiput
poor coordination
shortened inner dynein arms
hypoplasia of pituitary fossa
increased bone density in the middle bone of the pinky finger
increased urinary thiosulfate
fibular aplasia
facial hypertrichosis
missing middle phalanges
abnormality of end part of long bone of foot
absent middle phalanx of index finger
abnormal biliary tract morphology
abnormality of cranial nerve xii
partial dislocation of small joints of hand
neovascularization of peripheral and posterior retina
aplasia of the middle phalanx of the 5th finger
chalazion
broad nose
progressive brachydactyly of middle and distal phalanges
polydactyly, postaxial
brushfield spots
cupid-bow shaped upper lip
generalized microdontia
abnormality of the distal phalanx of the 2nd finger
premature coronary artery disease
abnormal metaphyseal vascular invasion
high blood carbon dioxide level
uneven increase in bone density in the outermost bone of pinky finger
hodgkin's lymphoma
webbed elbow
pituitary hypothyroidism
tetraplegia/tetraparesis
prolonged brainstem auditory evoked potentials
cone shaped lower front tooth
abnormality of the 2nd toe bone
meligioma
limited extraocular movement
iris melanoma
congenitally corrected transposition of the great arteries with ventricular septal defect
factor v deficiency
lobulated tongue
highly variable phenotype
broad phalanges of the 5th finger
failure of development of deciduous mandibular lateral incisor
weight gain
fused innermost bone of pinky finger with 5th long bone of hand
best corrected visual acuity 1.1 logmar
asymmetry of right and left side of the maxilla
symphalangism affecting the proximal phalanx of the 2nd finger
absent toes
red head (hair color)
anterior position of the primary palate bone
square metaphysis of long bone of upper arm
ciliary madarosis
reduced ratio of renal calcium clearance to creatinine clearance
uraciluria
recurrent haemophilus influenzae infections
contracture of the distal interphalangeal joint of the 2nd toe
vasa previa
stretchable chest skin
axillary epidermoid cyst
increased wrinkles of palms and soles
ivory epiphyses of the 3rd toe
anteriorly displaced genitalia
amyolid cardiomyopathy
degeneration of intervertebral disks
smooth tongue
pit in front of the ear
vaginal pyocele
accelerated carpal bone maturation
enlarged epiphysis of the middle phalanx of the 3rd finger
increased projection of lower jaw
deep median tongue groove
muscle fibre hypertrophy
elevated intestinal alkaline phosphatase
pattern dystrophy of the retina
lens luxation
sclerosis of skull
absent middle ear ossicles
peripheral arterial disease
pituitary spindle cell oncocytoma
exercise-induced muscle stiffness
central polydactyly
seizures, febrile, in early childhood
abnormality of the proximal fibular epiphysis
short innermost 2nd toe bone
narrow upper jaw bones
d-2-hydroxyglutaric aciduria
abnormality of zinc homeostasis
canted lower jaw
satyr ear
abnormality of craniofacial shape
mirror image foot polydactyly
large knee
absent/small vertebral column
polygenic inheritance
asymmetric lower limb shortening
enlarged semicircular canal
reduced c peptide level
peripheral kidney degeneration
uneven increase in bone density in the middle bone of the ring finger
obsolete endometriosis
membranoproliferative glomerulonephritis
bracket epiphysis of the distal phalanx of the 4th toe
absent or hypoplastic metatarsal
increased thickness of skull base
camptodactyly of feet
mesomelia of the lower limbs
abnormality of ossification of calvarium
nephrotic range proteinuria
broad middle bone of the pinky toe
abnormality of the region around the eyes
stippled pigmentation
absent end part of the toe bones
shagreen patch
abnormal extraocular movement
white mater abnormalities in the posterior periventricular region
hypnic headache
abnormal blood clot
relative mandibular prognathism
ivory epiphysis of the middle phalanx of the 2nd toe
enlarged ventricles
anteverted nares
distinctive facies
overgrowth of gum ridge
abnormality of the epiphysis of the middle phalanx of the 4th finger
abnormality of the mouth
triangular end part of the middle bone of the little toe
tetralogy of fallot with absent pulmonary valve
psychomotor retardation, moderate
abnormality of the labia
misshapened teeth
nodular inflammatory vasculitis
complete duplication of the phalanges of the 4th finger
areas of dysmyelination on mri
abnormality of the wrist
small epiphyses of the thumb
helix, crus, expanded terminal portion
partial/complete duplication of the middle phalanges of the toes
fused ribs
cross-fusion of the forearm bones
conical deciduous incisor
3-4 finger syndactyly
underdeveloped lung veins
abnormality of rpe
short terminal index finger phalanx
decreased methionine synthase activity
triangular end part of the outermost bone of the pinky toe
duplication involving bones of the feet
absence of septum pellucidum
abnormality of the hard palate
noncirrhotic nodulation
grayish enamel
progressive ophthalmoplegia
one sided cleft palate
morphological abnormality of the pyramidal tract
midthoracic hemivertebrae
ulnar deviation of the 4th finger
emotional blunting
lesion of the eyelid
widening of phalanges of the hand
abnormality of the musculature of the hand
bullet-shaped distal phalanx of the thumb
speckled calcifications in end part of thumb bone
lunatomalacia
peg shaped front tooth
abnormality of gi blood vessels
abnormal tarsals
persistent cloaca
bone pain
abnormality of lung veins
cleft of mandibular alveolar process
accesory tragus
low insertion of columella
frequent respiratory infections
absent/underdeveloped radius
hallucal symphalangism
nevus roseus
lens opacities
thickened calcaria
small sacrum
abnormal head of long bone in upper arm
delayed ankle bone maturation
pulmonary aspiration
abnormality of circulating beta-2-microglobulin level
rickets
frequent opportunistic infections
hyperplasia of half of the tongue
upturned nose
e coli infections, recurrent
abnormal protein o-linked glycosylation
olivopontocerebellar hypoplasia
fat malabsorption
speckled calcifications in end part of bone
cfeom
double row of eyelashes
abnormality of the outermost bone of the big toe
visual impairment
periapical tooth abscess
vitamin d deficiency
athetoid cerebral palsy
marfanoid habitus
decreased carpal angles of wrist
experiential auras
failure of development of maxillary lateral incisor
inferior lens subluxation
abnormality of the neck
shallow palmar creases
sensorineural deafness, late-onset
fused bones of 3rd toe
aggression
night blindness, congenital
dental abscess
epispadias
decreased glucosephosphate isomerase activity
microcolon
fragmentary myoclonus
increased total cholesterol
hyperferritinemia
multiple small bowel atresias
abnormality of circulating corticosterone level
obtundation status
hypoplastic fibula
distal sensory loss of proprioception
deformed external ear on one side
branchial fistula
e coli infections
decreased electroretinogram response
eeg with diffuse acceleration
muscle fiber tubular inclusions
absent/small middle bone of 2nd toe
intraretinal exudate
abnormality of the extraocular muscles
abnormal transferrin saturation
spastic/hyperactive bladder
inverted eyelid
beaten-bronze macular sheen
abnormal hardy-rand-rittler plate test
bronchogenic cyst
hyperhidrosis of palms and soles
atretic transverse aortic arch
hutchinson-boeck teeth
claw hands
hypotrophic upper jaw bones
deep median lingual furrow
radial metaphyseal irregularity
underdeveloped spleen
duplication of the bones of the little toe
negative nbt reduction test
prominent floating ribs
stippling of the epiphyses of the phalanges of the hand
small platelets size
tremor, postural
aplasia/hypoplasia of the middle phalanx of the 4th finger
abnormality of palatopharyngeus muscle
increased tear production
deformity of the chin
highly variable phenotype and severity
abnormality of the immune system
abnormality of reticulocytes
small nail
absent/small 5th long bone of hand
middle ear abnormality
aca positivity
increased bone density of end part of the middle bone of the 3rd toe
megalencephaly
chaddock reflex
metaphyseal flaring of long bones
protracted bleeding after surgery
abnormality of upper lip
abnormality of the malar arch
pineal parenchymal tumor
reduced thyroxin-binding globulin
lymphatic disease
arterial fibromuscular dysplasia
speckled calcifications in the end part of the outermost bone of the 2nd toe
aplasia cutis congenita of vertex
absent epiphysis of the distal phalanx of the 4th finger
absent sternal ossification
duplication of the proximal phalanx of the 4th finger
duplication of phalanx of toe
absent/small 2nd toe
nausea and vomiting
agenesis of upper eyelashes
exudative pleural effusion
congenital stapes ankylosis
duplication of the proximal phalanx of the fifth toe
bracket shaped end part of long bone
absent atrioventricular node
exercise-induced u wave inversion
multiple fractures present at birth
pancreatic hyperplasia
pretibial epidermolysis bullosa
abnormality of the feet
clubbing
increased plasma vitamin k epoxide after vitamin k supplementation
subarachnoid hemorrhage
complete duplication of the phalanges of the thumb
elevated urinary hydroxyproline
knee flexion contractures
microcephaly, postnatal, progressive
small head present at birth
thinning and bulging of occipital bone over the transverse sinuses
hypoglycaemia
aggravated by exercise
poor sucking
eburnation of spinal bone
absent/underdeveloped innermost pinky finger bone
non-functional pituitary adenoma
recurrent pyogenic skin infections
aplasia of the inferior half of the cerebellar vermis
deformity of face
abnormality of the epiphysis of the middle phalanx of the 3rd toe
myotonia of the lower limb
pinhole visual acuity 0.9 logmar
reduced intrathoracic adipose tissue
nail dystrophy
abnormality of the gingiva
low blood sugar
acute colitis
atrophy/degeneration affecting the brainstem
deafness in one ear
basal cell carcinoma
absent cervix
supernumerary testes
l-2-hydroxyglutaric aciduria
increased bone density in the middle bone of the pinkie toe
symphalangism of the proximal phalanx of the 3rd finger with the 3rd metatcarpal
aplasia cutis congenita of scalp
abnormality of the menton
obstructive deficit on pulmonary function testing
triggered by heat
undetectable pattern electroretinogram
single naris
absent/small ring finger bones
increased circulating very-low-density lipoprotein cholesterol
mimic spasms
abnormality of the ovaries
aplasia of the hallux
cns hypomyelination
generalized lymphadenopathy
abnormality of cognition
superior pectus carinatum
pulmonic infiltration
aplasia/hypoplasia of the fallopian tube
choreoathetosis
absent/underdeveloped middle bone of 2nd toe
generalized hypotrichosis
red blood cell keratocytosis
symphalangism of the proximal phalanx of the 2nd finger with the 2nd metatcarpal
extra bone on end of second long bone of hand
visual acuity no light perception
lipoma of the tongue
nephroptosis
swallowing difficulty
idiopathic thrombocytopenic purpura
chronic lymphatic leukemia
patchy sclerosis of 2nd finger phalanx
pilonidal sinus
limb hypertonia
deficiency of alveolar ridge
lower lid coloboma
external auditory canal exostoses
absent fifth fingernail
chin with horizontal furrow
occipital meningocele
gluten intolerance
increased height of menton region
limited hip abduction
absent ossification of femoral capital epiphyses
triangular epiphyses of the 3rd finger
speckled calcifications in end part of the long bone of hand
atrophic and degenerative changes in the spinal cord
decerebrate posturing
dislocated elbows on both sides
deviated middle finger
platelet antibody positive
vitamin b3 deficiency
gastrointestinal tract defects
insulin-dependent diabetes mellitus
angular stomatitis
blind spot located at fixation point
premaxillary bone deficiency
transient hypogammaglobulinemia of infancy
chess-pawn shaped outermost bone
abnormality of cranial vault
distal limb muscle atrophy
scrotal tongue
absent scapula
increased upper to lower segment ratio
hyperplasia of nose
abnormality of the end part of the little toe bone
blood clot in splanchnic vein
prominent stem of antihelix
depressed supraorbital margins
decreased mean corpuscular volume
focal hyperextensible skin
short outermost little finger bone
puberty and gonadal disorders
expanded metacarpals with widened medullary cavities
fetal polyuria
anomaly of the sella turcica
low alkaline phosphatase
palmoplantar keratosis with erythema and scale
misshapen teeth
overgrowth of one leg
urethral valve
increased width of nares
absent renal corticomedullary differentiation
abnormality of the red part of the upper lip
fused carpal bones
aortic stenosis
hand anomalies
abnormal motor nerve conduction velocity
verrucous cell carcinoma of the tongue
fused middle bones of little finger
recurrent upper respiratory infection
body temperature instability
flared metaphysis of thigh bone
morning myoclonic jerks
malformation of the nasal ridge
everted eyelid
cystathioninemia
increased skin pigmentation
lingual fibrillations
benign genitourinary tract tumor
broad radius
small intestinal polyposis
increased c-peptide level
impaired renal creatinine clearance
abnormality of metacarpophalangeal joint
aplasia of the ulna
short collarbone
mobitz type 2 atrioventricular block
absent ossification/absent terminal thumb phalanx
curved spine
reduced natural killer cell number
bullet-shaped thumb bone
premature greying
absent left hemidiaphragm
abnormality of the intrahepatic bile duct
mental deterioration in childhood
hemangioma, facial, plaque-like
cervical instability
contracture of the metacarpophalangeal joint of the 2nd finger
peripheral
abnormality of fluid regulation
sclerosis of humerus
tga vsd
attention deficit
small neck muscle
macrocornea
epiphyseal stippling
rhomboid or triangular shaped innermost bone of pinky finger
fusion of thamali
undetectable vep
short proximal phalanx of the 5th finger
sagittal craniosynostosis
premature fusion of the radial epiphyseal plates
triangular shaped bone of the middle finger
onion bulb formations
short phalanx of the second toe
absent innermost bone of the pinkie toe
increased bone density of end part of the middle finger bone
preductal coarctation of the aorta
failure of development of nasal cartilage
solitary renal cyst
clubbing of fingers
constrictive pericarditis
pace of progression
acute demyelinating polyneuropathy
increased body height
hepatic failure
skin pustules
aortic regurgitation
atrophy of the rectus femoris muscles
absence of intrinsic factor
abnormal gastrointestinal transit time
abnormal tarsal bone mineral density
willis-ekbom disease
fragmentation of the end part of the innermost bone of the 3rd toe
phenylpyruvic acidemia
cranial hyperostosis
absence of permanent maxillary central incisor
dysfibrinogenaemia
gastrointestinal bleeding
thyroid carcinoma
abnormality of the end part of the innermost bone of the 4th toe
absent end part of the innermost bone of the little toe
short 2nd toe bone
contracture of the innermost hinge joint of the 4th toe
angioectasia of mucous membrane of nose
absent trapezoid bone
absent eccrine sweat glands
flattened humeral heads
abnormality of the sense of smell
scapular exostoses
alopecia of scalp
recurrent staphylococcal infections
abnormality of dicarboxylic acid metabolism
deformity of the midface
limb pain
fragmentation of the epiphysis of the 1st metatarsal
cervical platyspondyly
pulverulent cataract
nonbullous congenital ichthyosis
severity
sloping humeral metaphysis
edema of the dorsum of feet
neuropathic arthropathy
synotia
endometrial carcinoma
decreased size of skull
absent/small pinky finger
impaired social interaction
enlarged end part of the outermost hand bones
congenital conductive hearing loss
sternocleidomastoid amyotrophy
bracket epiphysis of the middle phalanx of the 2nd finger
macular drusen
abnormality of lower limb bone
lenticonus
loss of ability to walk
tortuous carotid arteries
multiple colonic adenomatous polyps
short-limb dwarfism identifiable during childhood
thin nasal ridge
tumor of the paranasal sinuses
hypoplastic female external genitalia
urinary incontinence
methemoglobinemia
transitional palmar crease
sleepy
abnormality of muscle physiology
shortened limbs
openings in parietal bones
sclerotic vertebral endplates
insertional polydactyly
triggered by ethanol ingestion
interstitial pulmonary abnormality
abnormality of the trapezium
sparse body hair
telangiectasia of the skin
abnormal reproductive system morphology
absent middle phalanx of 5th finger
extra eyelid
palatal telangiectasia
abnormal tailbone
absence of a tooth
loss of expressive speech
brain oedema
nasal tip, pinched
stomach churning
increased width of permanent maxillary central incisor
breathing difficulty
hypoglycinemia
diplopia
teleangiectases of palms
broad proximal phalanx of the 5th toe
neonatal unconjugated hyperbilirubinemia
third crus
wide phalanges
lower jaw retrognathia
periapical radiolucency
anomaly of the nasal bones
paresthesia
duplication of the phalanges of the 5th toe
hypotrophic superior crus of antihelix
atrophy/degeneration affecting the central nervous system
trapezoidal shaped vertebral bodies
gaped jawed appearance
cone-shaped epiphyses of phalanges
thick corpus callosum
hypoplastic/small proximal phalanx of the 3rd finger
dorsal column degeneration
abnormality of the epiphysis of the proximal phalanx of the thumb
colpocephaly
abnormality of complement system
fused innermost bone of the 2nd toe
mixed hearing loss
small sella turcica
malformation of the midface
punched out areas of chorioretinal hypopigmentation
patchy sclerosis of 3rd finger phalanx
elevated serum creatine phosphokinase
absence of tooth root
broad fingertip
vaginal lymphocele
reversible kidney failure
foot drop
cpeo
abnormal shape of pituitary fossa
crooked nasal dorsum
arthritis of the big toe
abnormal skeletal muscle fiber morphology
lingual twitching
delayed patellar ossification
white eyelashes
generalized nonspecific aminoaciduria
impaired delayed hypersensitivity
long maxillary central incisors
shrinking of one side of the face
large pituitary fossa
joint laxity, generalized
genital hernia
absent/small bladder
expressive aphasia
obsolete prenatal short stature
hypertrophy of nose
increased bone density of end part of the index finger bone
partial/complete duplication of the proximal phalanx of the 4th toe
enlarged end part of the middle bone of the little finger
bracket shaped end part of 4th toe bone
t lymphocytopenia
top1 antibody positivity
abnormality of temporalis muscle
dropsy
frontoethmoid meningocele
enanthema
small premaxilla
'curvilinear profiles' ultrastructurally
thickened cortex of long bones
graves disease
absent optic tract
absent muscle fiber laminin alpha 2
wide-spaced teeth
lytic defects of radial metaphysis
abnormal pineal volume
synostosis involving the metacarpal bones
neuroepithelial neoplasm
hypersarcosinuria
reduced hair growth in temporal region
pointed chin
carpal calcifications
fragmentation of the epiphysis of the middle phalanx of the 2nd finger
hypertrophy of the pulmonary artery wall
index finger dermatoglyphic radial loop
abnormality of the 3rd toe
large halluces
limited movement of hinge joints
intratesticular abscess
bullet-shaped phalanges of the hallux
cone-shaped epiphysis of the middle phalanx of the 3rd toe
recurrent bacterial infections
intraaxonal accumulation of curvilinear autofluorescent lipopigment storage material
absent/small innermost finger bones of the hand
intellectual disability, moderate
loose anagen hair
increased width of base of nose
aplasia of the tarsal bones
missing a tooth
edema of dorsum of feet
abnormality of von willebrand factor
patchy sclerosis of the phalanges of the 4th finger
trichotillomania
pancreatic hypoplasia
anti-smooth muscle antibody positivity
atrophy/degeneration involving the corticospinal tracts
maxillary excess
fair hair color
white matter neuronal heterotopia
iron deficiency anemia
absent or minimally ossified vertebral bodies
distal upper limb muscle weakness
abnormality of the leg
rhabdomyosarcoma
facial hypoplasia
aplasia of the proximal phalanges of the hand
abnormality of forearm bone
abetalipoproteinemia
smooth swollen tongue
small end part of the outermost bone of the index finger
partial/complete duplication of the middle phalanx of the 2nd finger
low gonadotropins (secondary hypogonadism)
genitourinary disease
bochdalek hernia
widened cranial sutures
retinal hole
duplicated nail
aortic root dilatation
eosinophilia
partially duplicated kidney
multiple respiratory infections
retinal vaculitis
restrictive deficit on pulmonary function testing
broad outermost pinky finger bone
electroencephalogram abnormal
increased heart size
malignant mesothelioma
facial fat atrophy
psychomotor retardation, profound
wide fingers
flexural lichenification
aplasia/hypoplasia involving the musculature of the upper arm
abnormal earlobe
abnormality of upper limb bone
decreased volume of lower lip vermilion
absent rod-and cone-mediated responses on erg
abnormal enchondral ossification
cystic lesions of the pinnae
short-trunk dwarfism, identifiable in infancy
abnormality of the odontoid process
atrial septal defect
absent/small palm crease
hypertrophic pancreatic islets
triggered by heavy meal
cone-shaped end part of the innermost bone of the pinky toe
abnormality of circulating cortisol level
steatosis
u-shaped upper lip vermilion
abnormality of branchial apparatus
gastrointestinal atony
increased bone density of end part of the outermost pinky finger bone
double eyelid
short distal phalanx of the 5th toe
mandibular aplasia
progressive systemic scleroderma
abnormal platelet membrane protein expression
posterior subcapsular cataract
2-3 toe syndactyly
low blood albumin
abnormal shape of posterior cranium
long face
persistent patent ductus venosus
paramembranous ventricular septal defect
flared iliac wing
central retinitis pigmentosa
sphincter disturbance
mental retardation, borderline
partial cellular immunodeficiency
periapical granuloma
deformity of nasal cartilage
failure of development of permanent maxillary central incisor
atlantoaxial abnormality
abnormal timing of flash visual evoked potentials
abnormality of head size
missing maxillary central incisor
proximal limb weakness
fullness of eyelids
dysharmonic maturation of the hand bones
right aortic arch with retroesophageal left subclavian artery
right ventricular failure
hepatojugular reflux
diffuse mesangial sclerosis
partial duplication of the distal phalanx of the fourth toe
hypoplasia of the ventral pons
delayed puberty
hypotrichosis of the scalp
loss of words
duplication of the middle bone of the pinky toe
hypoplastic nasal alae
laryngeal obstruction
abnormality of the thymus
vesicoureteric reflux
progressive truncal ataxia
absent epiphysis of the proximal phalanx of the 5th finger
anal incontinence
impaired distal proprioception
indented helix
tenesmus
osteolytic defects of the distal phalanx of the hallux
fused innermost hinge joints
ciliary zonule abnormality
fragmentation of the epiphysis of the distal phalanx of the 2nd toe
poorly formed metencephalon
uneven craniofacial structures
conical primary incisor
tented upper lip vermilion
absent big toe
leukoaraiosis
abnormal blood creatinine level
ige deficiency
hyponatriuria
pituicytoma
high tsh
positive regitine blocking test
saccadic slow pursuit
increased calcium in blood
atypical hyperphenylalaninemia
curved middle phalanx of the 4th toe
periapical radiolucencies
postural tremor of arms
new blood vessel formation in iris
everted upper lip
malocclusion of teeth
agenesis of premolar
single transverse palmar crease
sensory axonal neuropathy
enlarged liver
ocular dyssynergia
nonimmune hydrops fetalis
euthyroid multinodular goiter
duplication of the proximal phalanx of the 2nd finger
constricted helix type iv
finger overgrowth
glenoid fossa hypoplasia
abnormality of the arm
hypoplastic bridge of nose
abnormal male reproductive system physiology
unilateral cleft lip
fibular overgrowth
non-allergic food hypersensitivity
absent/underdeveloped ear lobes
fractures of the long bones
aplasia of the proximal phalanx of the 3rd finger
abnormal dense granules
abnormal peripheral nerve transmission
abnormality of the third ventricle
stomach cancer
club-shaped innermost end of thighbone
progressive vitiligo
metaphyseal sclerosis
complete duplication of the proximal bone of the ring finger
sparse and thin eyebrow
abnormal u wave
bilateral intracranial calcifications
decreased deep tendon reflexes
congenital ophthalmoplegia
hypotrophic tip of nose
upper eyelid edema
abnormal placental size
bracket shaped end part of the middle bone of 3rd toe
distal
tragus, prominent
increased bone density in the middle bone of the ring finger
renal tubular defect
cone-shaped end part of the middle bone of the pinkie finger
absent or hypoplastic patellae
short 5th toe
depressed malar region
increased width of bridge of nose
midline brain calcifications
malrotation
neoplasm of the eye
thin upper lips
follicular thyroid carcinoma
osteolytic defects of the distal phalanx of the 5th toe
aplasia of the upper vagina
small kidneys
chronic lactic acidosis
fused innermost bones of toes
agenesis of second permanent molar
weakness of the intrinsic hand muscles
prominent frontal suture
rapid breathing
abnormality involving the epiphyses of the limbs
tooth agenesis
microcephaly, postnatal
palmoplantar blistering
focal segmental glomerulosclerosis
malar hypoplasia
numerous pigmented freckles
prominent hinge joints
abnormality of globe position
inflammation of adipose tissue
duplicated clitoris {comment="pmid:23650202"}
arc-shaped blind spot
absent specific antibody response
atypical nevus
prolapse of tongue
type i lissencephaly
chin dent
progressive dementia
unilateral lung agenesis
prominent perineal raphe
hypoactive to absent deep tendon reflexes
periapical cyst
overgrowth of the inside of the frontal bone
neurilemmoma
hypoplastic distal phalanges
polycystic kidneys
abnormality of skull bone morphology
neutropenia
underdeveloped heel bone
mononeuropathy
enlarged end part of the middle hand bones
cone-shaped epiphysis of the distal phalanx of the 3rd toe
cortically dense long tubular bones
abnormality of the alveolar ridges
desquamative interstitial pneumonitis
enlarged end part of the innermost bone of the ring finger
thin nasal dorsum
abnormal electroretinogram
abnormality of forebrain morphology
abnormality of the epiphysis of the 5th metacarpal
abnormality of the end part of the 3rd long bone of hand
slitlike anterior chamber angles in children
patchy sclerosis of hand bones
generalised opacification of the cornea
thin dorsum of nose
occult macular dystrophy
chorangioma
ichthyosis, congenital, nonblistering
single umbilical artery
walking on tiptoes
displacement of the 5th toe
sclerosis with transverse striations in metaphyses of the upper limbs
bilateral conductive deafness
abnormality of the urinary system
absent/underdeveloped wrist bones
elevated amniotic fluid alpha fetal protein
stippling of the epiphysis of the distal phalanx of the 5th finger
oral idiopathic white patch
hypoplastic clitoris
thickened alveolar ridges
increased cerebrospinal fluid lactate
disc pallor
rectoperineal fistula
proximally placed lunate
non-secretory adrenocortical adenoma
absence of primary mandibular central incisor
sparse, thin scalp hair
giant cell hepatitis on biopsy
broad middle finger bones
bowing of the legs
small or absent distal phalanges
abnormality of terminal thumb phalanx
nose cancer
widened cerebellar subarachnoid space
poor exercise tolerance
absent bones of the toes
irregular respiration
alkalosis
spatulate terminal phalanges
elevated imprint of the transverse sinuses
acute bronchitis
hemivertebrae
congenital cataracts, bilateral
recurrent infections
lingual hypertrophy
wide/broad humeral metaphysis
complete duplication of the middle phalanx of the 3rd finger
increased urinary sodium
tarsal bone synostosis
decreased size of nasopharyngeal adenoids
type i muscle fiber predominance
intermittent hypothermia
hematological neoplasm
recurrent pyelonephritis
absent epiglottis
hypoplastic ribs
neoplasm of the lung
pale pigmentation
abnormality of the elbow metaphyses
small labia majora
bow legs
incomplete ossification of pubis
optic nerve coloboma
thin long bone diaphyses
generalized hypopigmentation
different colored eyes
heterotopias/abnormal migration
agenesis of deciduous maxillary central incisor
severe near sightedness
hypoglycemia, recurrent
lesion of oral cavity
presence of foam cells
absent middle bone of pinky toe
diffuse
hyperplasia of supraorbital ridge
obsolete bracket epiphyses of the 4th finger
decreased vertical dimension of face
columella, high insertion
deuteranomoly
color vision defect, severe
trigeminal neuralgia
fragmentation of the epiphysis of the middle phalanx of the 4th toe
malaligned carpal bone
aplasia of the fifth metatarsal bone
lipid accumulation in macula
pericarditis
increased gastric cancer
loss of fat tissue below the skin in limbs
agenesis of facial bones
duplication of the distal phalanx of the third toe
antimongoloid slant of palpebral fissures
coronal clefts
abnormal thalamic size
vertical supranuclear gaze palsy
generalized tonic seizures
abnormality of upper limb epiphysis morphology
short stature, proportionate
abnormality of the carpal bones
medial widening of clavicles
flat head syndrome
t cell lymphoma
unerupted teeth due to mucopolysaccharidoses
narrowing of the tear duct
tonsillar hypoplasia
abnormality of cortical bone
underdeveloped pec muscle
fused lumbar vertebrae
flattened end part of long bone in upper arm
fused sternal ossification centers
cone-shaped epiphysis
absent ethmoidal sinuses
absence of bicuspid
hypoplastic mandible condyle
end-stage renal disease
hypoplastic intestines
contracture of proximal interphalangeal joints of 2nd-5th fingers
central scotoma
thin lips
abnormality of inferior thyroid vein
abnormality of cardiac morphology
decreased size of nasal bridge
leprechaun facies
vomitting blood
small epiphysis of the proximal phalanx of the 2nd toe
lower front shark tooth
complete duplication of the distal phalanx of the 2nd finger
absence of the palmar creases
ameliorated by heat
small adrenal medulla
short diaphyses
bullet-shaped toe bone
interictal vestibular dysfunction
prominent scalp veins
aplastic humerus
acute infantile spinal muscular atrophy
supernumerary nipple
extra hair whorl
ekg: t-wave abnormalities
neoplasm of the thymus
angioectasia of mucosa of nose
enlarged thymus
absent/small skeleton
enlarged end part of the middle bone of the pinkie finger
hypoplasia of the anterior nasal spine
fusion of shoulder blade to long bone in upper arm
bronchomegaly
mottled tooth enamel
wide, carp-shaped mouth
pinhole visual acuity 0.5 logmar
abnormality of the finger bones
missing globe of eye
contractures of the achilles tendon
susceptibility to respiratory infections
paracentral
left superior vena cava draining directly to the left atrium
absent muscle fiber alpha sarcoglycan
almond-shaped palpebral fissure
malformation of base of nose
achromatopsia
decreased upper labial length
weak chin
ivory epiphysis of the distal phalanx of the 5th toe
ankyloblepharon filiforme adnatum
incomplete closure of the vertebral arch
erlenmeyer flask deformity of the femurs
small epiphyses of the middle phalanges of the hand
partial fusion of proximal row of carpal bones
yellow nails
cleft alveolar process of maxilla
enlarged longitudinal fissure
anus anteposition
pruritis on breast
atrial reentry tachycardia
broad proximal phalanx of the 4th finger
elongated sella turcica
renal fanconi syndrome
antimitochondrial antibody positivity
parathyroid adenoma
narrow tip of nose
hypoplastic/small phalanges of the 5th toe
increased renal tubular phosphate reabsorption
high urine aspartylglucosamine levels
abnormality of hair consistency
hearing impairment
femoroacetabular impingement
acetabular dysplasia
wide long bones of hand
pulmonary aterial intimal fibrosis
peripheral retinal atrophy
simple partial seizures
stippling of the epiphyses of the hallux
periorbital puffiness
broad femoral head
toe contractures
no speech or language development
flaccid neck
ingrown nail
broad uvula
wry neck
histidinemia
generalized bone demineralization
poor night vision
schmorl's node
abnormality of the right hemidiaphragm
toe stiffness
reduced beta/alpha synthesis ratio
hypertrophy of the tongue
focal and segmental glomerular sclerosis
coccygeal tail
barrel chest
hypomimia
bullet-shaped distal phalanx of the 3rd finger
mitochondrial dysfunction
slow growing hair
hypoplastic acetabulae
papilloma
pes equinovarus
absent cranial nerve viii
enlarged thorax
fused innermost bones of middle finger with middle long bone of hand
abnormal platelet granule secretion
cervicitis
hyperhidrosis
abnormality of thyroid morphology
peripheral neuritis
frontal suture depression
flat nasal root
loss of fat tissue
abnormal scrotum position
nongranulomatous uveitis
downgaze paresis
irregular end part of the innermost pinky finger bone
basilar impression
inflammatory abnormality of the skin
abnormality of the frontal hairline
hyperprolactinaemia
aplasia involving bones of the lower limbs
small fontanelle
sparse to absent eyelashes
hypotonia in infancy
big skull present at birth
facet arthritis
ulnar claw
broad outermost finger bone
zygomatic flattening
lacrimal gland hypoplasia
cognitive decline, progressive
small cerebrum
curved innermost pinky toe bone
decreased width of tooth
absent epiphysis of the distal phalanx of the 4th toe
broad proximal phalanx of the 3rd toe
congenital bilateral facial weakness
double outlet right ventricle with subpulmonary ventricular septal defect without pulmonary stenosis
chest retractions
dystrophic toenail changes
hip pain
upslanted palpebral fissures
impaired distal vibration sensation
notched outermost bone of hand
elevated blood glycine levels
hypoplastic/small phalanges of the thumb
subluxation of patella
isolated cases
short 1st metacarpal
decreased urinary sulfate
abnormality of the outermost pinky finger bone
thiamine-responsive megaloblastic anemia
generalized muscle hypertrophy
increased bone density of end part of the outermost bone of the big toe
lack of language development
aplasia/hypoplasia of the optic nerve
absent/small outermost thumb bone
duplication of the distal phalanx of the 2nd toe
high frequency hearing loss
bilateral multifocal epileptiform discharges
substantia nigra gliosis
decreased size of tooth germ
lower limb spasticity
absent/small little finger bones
achilles tendon contractures
loss of subcutaneous adipose tissue from face
decreased adenosylcobalamin
pseudoepiphysis of the distal phalanx of the 5th toe
cone-shaped end part of the innermost bone of the ring finger
hypertrophic superior crus of antihelix
short septum of nose
giant cell hepatitis
accessory ectopic thyroid tissue
underdeveloped dental roots
proximal/middle symphalangism of 3rd finger
tooth within a tooth
medially deviated index finger
congenital primary aphakia
abnormal serum ferritin
proximal/middle symphalangism of 4th toe
thymic hypoplasia or aplasia
abnormal serum interferon-gamma level
wide-set eyes
widening of cervical spinal canal
decreased calvarial ossification
primary ovarian failure
increased bone density in innermost toe bone
lens disease
partial duplication of the innermost pinky finger bone
abnormality of dentine
asymmetry of the maxilla
juxtafoveal telangiectasia
favorable response to levodopa
persistent bleeding after trauma
abnormal shape of bones of the upper limbs
frontal hirsutism
osteolytic defects of the 1st metacarpal
vestibular ataxia
pyramidal tract signs
abnormal hypothalamus morphology
enamel with tendency to chip
abnormal morphology of the frontal region
absent/underdeveloped middle ear
fleischer-struempell ring
underdeveloped fingernail of pinky finger
absent sweat glands
hyperammonemia, acute
eyelid apraxia
hypochromic anaemia
bracket epiphyses of the 3rd toe
fused innermost bone of ring finger with 4th long bone of hand
eeg with central sharp slow waves
zygomatic hypertrophy
hemoperitoneum
triangular end part of the middle bone of the little finger
reduced csf 5-methyltetrahydrofolate concentration
fragmented elastic fibers in the dermis
hamartomatous stomach polyps
epidermoid cyst
upper motor neuron dysfunction
increased bone density in end part of bone
absence of lower jaw
short thighbone
reduced brain lactate level by mrs
focal epileptiform discharges with limited propagation to contralateral hemisphere
acephalic spermatozoa
laterally displaced fifth finger
shuffled walk
absence of skin creases over distal interphalangeal joints
hyperreflexia in the lower limbs
increased bone density of end part of the innermost bone of pinky finger
calcification of the trachea
broad middle phalanx of the 5th toe
abnormality of the primary palate bone
abnormal shape of hypophysial fossa
acth deficiency
muscle stiffness
seborrheic dermatitis
broad distal phalanx of the thumb
motor delay
cone-shaped epiphysis of the thumb
disproportionate tall stature
decreased urinary potassium
meconium ileus in neonates
thoracolumbar gibbus
long ears
duplication of distal phalanx of toe
abnormality of the middle phalanges of the toes
leydig cell insensitivity to gonadotropin
nipples absent or rudimentary
conspicious happy aspect
asymmetric chest
bacteria in urine
premature osteoarthritis
abnormality of the innermost bone pinky finger
panuveitis
upper eyelid colobomas
best corrected visual acuity 0.2 logmar
bullet-shaped outermost bone of the little toe
maternal seizures
broad finger
hypoplasia of the fifth metatarsal bone
obstructive deficit on pulmonary function test
abnormality of anterior crus of antihelix
pigmentation around the eyes
ectopic neurohypophysis
broad innermost finger bones of the hand
small pointed chin
absent thumbs
advanced dental eruption
broad humeral epiphyseal plate
metatarsal periosteal thickening
hypsarrhythmia by eeg
upper-body predominance
talipes calcaneovalgus
transverse insufficiency of face
abnormality of humoral immunity
genu recurvata
increased fetal movement
hypovolemia
widely patent sagittal suture
complete duplication of the outermost bone of the pinky toe
anterior scalloping vertebral bodies
aplasia/hypoplasia involving the corticospinal tracts
local tonic seizures
hyperkeratosis of palms and soles
decreased fertility in females
absent end part of the pinkie toe bone
capillary leak
nasal tip, narrow
hypoplastic teeth
abnormality of calvarial morphology
broad wide portion of long bone
generalized
prominent glabella
j-shaped sella turcica
extra eyelid skin
cone-shaped end part of the middle bone of the little finger
hypoplastic terminal thumb phalanx
restricted behavior
abnormality of the end part of the 2nd toe bone
sweating dysfunction
partial duplication of the phalanges of the 2nd finger
chronic lymphocytic thyroiditis
minimal fat below the skin
abnormal peripheral myelination
susceptibility to herpesvirus
congenital bilateral hip dislocation
limb ataxia
fair hair
fragmentation of the epiphyses of the 5th toe
high-arched palate
hypoplasia of olfactory tract
congenital dyserythropoietic anemia
optic disc hypoplasia
pulmonary artery stenosis
non-midline cleft lip
low blood creatinine level
abnormality of urine bicarbonate concentration
high iliac wings
low-to-normal blood pressure
limited shoulder movement
recurrent diarrhea
hypotrophic upper lateral incisor
aplasia/hypoplasia of the tarsal bones
non-rapid eye movement parasomnia
corpus callosum agenesis
progressive
absence seizures with special features
megakaryocytopenia
abnormal oct-measured foveal thickness
stereotyped, repetitive behaviour
central core regions in muscle fibers
partial autonomic seizures without altered responsiveness
abnormality of the renin-aldosterone axis
hypotonic seizures
colonic inertia
curved outermost ring finger bone
quadriceps weakness
hirsute forehead
hypotrophic neck muscle
secondary hyperparathyroidism
neoplasm of the liver
psychomotor retardation, mild
perifoveal ring of hyperautofluorescence surrounded by abnormal autofluorescence
abnormal cortical bone morphology
abnormal number of front teeth
broad innermost bone of the big toe
vertical orbital dystopia
neonatal hypoglycemia
abnormality of the lumbosacral nerve plexus
accessory cranial suture
capillary malformation
flattened proximal femoral epiphyses
impaired distal tactile sensation
sandal gap
metaphyseal dappling
abnormality of male internal genitalia
abnormal hypothalamus physiology
vaginal hernia
underfolded helix
abnormal trabecular bone morphology
abnormality of the genitourinary system
wrist pain
irregular radial epiphyses
absent cerebral falx
absent upper lateral incisors
fibularis muscle weakness
thickening of kidney artiries
absent/underdeveloped vetebrae
tremor
increased hematocrit
pulmonary arterial medial hypertrophy
psychic auras
shrinking of gum ridges
rounded and heavy facial features
favorable response of weakness to acetylcholine esterase inhibitors
inflammation of the tongue
anomaly of the chin
rhizomelia
hypoplasia of the iris dilator muscle
triangular epiphyses of the distal phalanges of the hand
narrow base of nose
aminoglycoside-induced hearing loss
aplasia of eyelashes
palate teleangiectases
increased stiffness of facial muscles
abnormal hearing
polar cataract
complete duplication of outermost bone of the thumb
frontalis muscle weakness
loss of adipose tissue around the neck
hyperactivity
broad distal phalanx of the 2nd finger
abnormality of the secondary palate
lip abnormality
irregular end part of innermost long bone of the middle finger
cornela disease
missing lateral incisor
posterior y-sutural cataracts
muscle stiffness with exercise
increased dlco
anemia due to reduced life span of red cells
broad long bone diaphyses
anomaly of the retina
absent outermost pinkie finger bone
spondylolysis
emg: chronic denervation signs
renal corticomedullary cystic disease
partial duplication of the outermost bone of the 2nd finger
progressive cochlear degeneration
blue eyes
frequent falls
agenesis of nasal cartilage
poor attention span
partial absence of cerebellar vermis
abnormality of the wide portion of the long bone in upper arm
duplication of bones of the ring finger
hypoplastic corpus callosum
high urine albumin levels
hypoplastic/small distal phalanx of the hallux
impaired vibration sensation in the lower limbs
hypnopompic hallucinations
contracture
abnormality of the ischial bones
generalized tonic-clonic seizures without focal onset
colon diverticula
cryptogenic organizing pneumonia
coarctation of aorta
decreased width of palpebral fissure
abnormal t3/t4 ratio
patchy sclerosis of the proximal phalanx of the 5th toe
blue sclerae
intrahepatic atresia of biliary duct
decreased plasma renin activity
trismus
absent toenails
constant urination
talocalcaneal synostosis
infantile digital fibromatosis
abnormal timing of pattern electroretinogram
acral ulceration and osteomyelitis leading to autoamputation of digits
dull foveal reflex
absent spinous processes of lower thoracic and lumbar vertebrae
abnormality of the hypothalamus-pituitary axis
generalized cerebral degeneration/underdevelopment
hydroxyprolinuria
maternal fever during pregnancy
large pelvis
perianal rash
abnormality of the cheek
reactive hypoglycemia
aplasia/hypoplasia of the ulna
varicocele
hypoplastic ilia
profuse sweating
gastrointestinal duplication
hypoplastic antihelix
partial/complete duplication of the middle phalanx of the 3rd toe
abnormal adiponectin level
osteopathia striata
diffuse mesangial sclerosis glomerulopathy
notched lower eyelid
stiff interphalangeal joints
contracture of the proximal interphalangeal joint of the 3rd toe
tall forehead
delayed myelination
specific antibody deficiency
postductal aortic coarctation
hepatocellular carcinoma
foot pain
persistent posterior fetal fibrovascular sheath of the lens
abnormal pupillary function
alveolar hypoventilation
inactivating thyroid-stimulating hormone receptor defect
dyscognitive seizures
needle-shaped cataract
3-4 finger cutaneous syndactyly
acromelia of the upper limbs
anomalous muscle bundle of the right ventricle
hypoplastic anemia
interphalangeal joint flexion contractures
cerebral atrophy
type 1 and type 2 muscle fiber minicore regions
hyperfibrinogenemia
malformation of dental enamel
crimped helix
orotidine-5-prime-phosphate decarboxylase defect
bracket shaped end part of the toe bones
widened metatarsal shaft
small/absent pec muscle
coagulopathy
wide facies
agraphesthesia
small end part of the outermost bone of pinkie finger
fragmentation of the epiphyses of the distal phalanges of the hand
large half of tongue
bullet-shaped middle bone of the pinky toe
high urine bacteria
ossicular malformation
absent/small innermost 2nd toe bone
mengiomia
abnormal manual kinetic perimetry test
fetal overgrowth
melanocytic naevus
abnormality of cricoid cartilage
cervical spine instability
puffiness around the eyes
delayed speech development
complete duplication of the outermost little finger bone
numerous nevi
large distal femoral epiphyses
eclabion
menetrier disease
hemoglobinuria
cerebral artery atherosclerosis
valgus hand deformity
diffuse cerebellar atrophy
telangiectasia of the oral mucosa
pointed upper lateral incisors
central hypothyroidism
lingue plicata
dilation of the ascending aorta
lethal infantile mitochondrial myopathy
red-blind
uterine prolapse
curved little finger bone
broad distal phalanges of all fingers
decreased renal parenchymal thickness
triangular shaped distal phalanx of the 5th toe
metabolic ketoacidosis
abnormality of the epiphysis of the proximal phalanx of the 5th toe
frontal cowlick
calcification of falx cerebri
decreased sweating
hypoplastic deciduous teeth
myoclonus of facial muscles
abnormality of the corticospinal tract
big cheeks
preauricular tag
buck teeth
increased height of upper lip vermilion
hammer toe
variable progression rate
spastic tetraplegia
absent/underdeveloped nails
fragmented end part of upper limb bones
metacarpal osteolysis
laryngeal cyst
methionine synthetase activity decreased
overfolding of the superior helices
increased serum free triiodothyronine
colloid bodies
cutis gyrata of scalp
facial muscle weakness of muscles innervated by cn vii
curved distal phalanx of the 5th finger
eruptive vellus hair cyst
partial shoulder dislocation
hyperextensible joints
dislocated radius
abnormality of leukotriene metabolism
median arcuate ligament syndrome
overactive knee reflex
fused bones of 2nd toe
abnormal posturing
thoracic cystic lymphangioma
osteoid osteoma
alveolar soft part sarcoma
velopharyngeal insufficiency
pendular nystagmus
loss of subcutaneous adipose tissue from extremities
progressive encephalopathy
foramen magnum stenosis
dilation of lateral ventricles
edema of the dorsum of hands
phenylalanine hydroxylase deficiency
joint contracture of the 4th finger
prominent proximal interphalangeal joints
atrophy of facial musculature
irregular carpal bones
aganglionic megacolon
absent outermost bone of big toe
speckled calcifications in the end part of the outermost bone of the big toe
anomaly of the zygomatic arch
enthesitis
early and severe mental retardation
iridocele
transitional renal cell carcinoma
flat nasolabial fold
diffuse brain atrophy
intrapulmonary hemorrhage
dilated cochlear aqueduct
reduced penetrance
curved 1st long bone of hand
mild microcephaly
giant pigmented nevus
choroidal hemangioma
lingual retraction
hyperactive renin-angiotensin system
aplasia/hypoplasia of the phalanges of the hand
absent/small shoulder blade
renal agenesis
small epiphysis of the middle phalanx of the 4th toe
nocturnal under breathing
accentuated thoracic kyphosis
cutaneous t-cell lymphoma
curved middle bone of 3rd toe
birth length greater than 97th percentile
increased sensitivity to ionizing radiation
colitis ulcerosa
abnormality of calvarium
cervical vertebral agenesis
paucity of anterior horn motor neurons
abnormal mannosylation of n-linked protein glycosylation
brain edema
restrictive ventilatory defect
neoplasia of the skin
increased thickness of skin epidermis
cardiomyopathy, right ventricular
descending aortic aneurysm
mental retardation, borderline-mild
increased bone density of end part of the outermost bone of the 2nd toe
borderline
tongue fasciculations
abnormal tracheal cartilaginous ring
absent stapes
fused innermost hand bones
abnormality of vitamin e metabolism
dysaesthesia
blepharophimosis
absent/underdeveloped upper limb muscles
young adult onset
aortic dissection
decreased size of mandibular ramus
abnormality of the anterior segment of the eye
abnormality of the septum pellucidum
corneal endothelial guttata
congenital absence of skin of limbs
peg shaped upper front tooth
subaortic stenosis
conoid tooth
dislocated wrist
vestibular neurinoma
short 1st long bone of foot
adrenal gland hypoplasia
short palate
symphalangism of the proximal phalanx of the 4th toe with the 4th metatarsal
speckled calcifications in end part of thumb innermost long bone
winged scapulas
enlargement of half of face
abnormal foot muscles
abnormality of the premaxilla
partial duplication of the proximal phalanx of the 3rd finger
talipes cavus equinovarus
tapered long bone of upper arm
type i truncus arteriosus
hypotrophic lower eyelid
hypoplasia of condylar head of mandible
cleft vertebral arch
temporal hypotrichosis
hemiclonic seizures
anomalous pulmonary venous return
large ears
thin nares
curved innermost ring finger bone
abnormality of renin-angiotensin system
abnormality of pancreas physiology
triphalangeal thumbs
aplasia of the middle phalanx of the 4th toe
uneven increase in bone density in finger bone
rarefaction of retinal pigmentation
perifoveal ring of hyperautofluorescence surrounded by normal autofluorescence
hemifacial microsomia
congenital lamellar ichthyosis
bifid femur
triggered by pregnancy
broad middle bone of pinkie finger
columella, low insertion
retinal degeneration
posterior vitreous detachment
duplication of the distal phalanx of the 3rd finger
uneven increase in bone density in the innermost bone of pinkie finger
uterine leiomyosarcoma
hand clenching
abnormal joint morphology
wide/broad middle phalanx of middle-finger
exacerbated by head trauma
u wave inversion
increased urine citrate concentration
port-wine stain on eyelid
hypochromic anemia
absent/small testes
chloasma
external ear position defect
chronic lymphocytic meningitis
absent retinal pigment epithelium
thick palms and soles
intestinal pseudo-obstruction
lytic defects of hand bones
malabsorption
upgaze palsy
bowed calf bone
prominent, protruding upper incisors
uvula aplasia
overactive bladder
fragmentation of the epiphyses of the 4th toe
atrophy/hypoplasia of the cerebellum
flat capital femoral epiphysis
concave nasal bridge
acute liver inflammation
renal duplication
crumpled long bones
abnormality of end part of the middle bone of the index finger
enlarged lacrimal glands
hypoplastic metacarpals
abnormal copper levels
rotting teeth
increased endomysial connective tissue
increased size of maxilla
abnormal of nasal shape
abnormality of the eighth cranial nerve
tightly closed lips
generalized sclerosis of hand bones
hypoplasia of serratus anterior muscle
abnormality of circulating adrenocorticotropin level
very poor growth
narrow sacroiliac notch
prominent philtrum
abnormality of the distal phalanges of the hand
abnormality of saccadic eye movements
increased width of nasal base
restrictive behavior
large antegonial notch of mandible
abnormality of the somatic nervous system
peripheral pulmonary artery stenosis
red and sore corners of the mouth
intestinal edema
increased serum iduronate sulfatase activity
small tooth germ
rhomboid or triangular shaped 5th finger proximal phalanx
pigmentation of eyelids
decreased circulating androgen level
triangular shaped middle phalanx of the 3rd finger
duplication of the proximal phalanx of hand
abnormality of somatosensory evoked potentials
small end part of the middle bone of the pinky toe
intracerebral calcifications
long fingers
grooved nails
diffuse demyelination of the cerebral white matter
bullet-shaped phalanges of the thumb
meningitis
absent carpal ossification center
abnormality of female external genitalia
aplasia of the lower jaw bone
descemet membrane folds
peg-shaped maxillary lateral incisors
multifocal breast carcinoma
gonadal dysgenesis with female appearance, male
small epiphyses
atrophic skin
absent distal interphalangeal creases
underdeveloped antitragus
long coccyx
lipemia retinalis
sense of smell impaired
broad base of nose
speckled calcifications in the end part of the outermost bone of the little toe
abnormality of the end part of innermost shinbone
hallux varus
late eruption of teeth
hyperreflexia in knees
ciliary limbus
prominent central palatal ridge
tracheal diverticulum
ectopic scrotum
no permanent dentition
absent/hypoplastic thumb
carcinoid tumors
external auditory canal atresia
lymphoedema
abnormality of growth plate morphology
broad phalanx
ataxic tremor
total cataract
vertebral body sclerosis
triangular epiphysis of the outermost bone of the thumb
abnormality of the proximal phalanx of the 5th finger
abnormality of the pinkie toe bones
underdeveloped calf muscles
late-onset proximal muscle weakness
breast tumor
periosteal thickening of long tubular bones
conotruncal heart defects
absent/underdeveloped colon
failure of development of mandibular central incisor
niddm diabetes mellitus
superficial spreading melanoma
hearing defect
premature loss of teeth
portal fibrosis shown on biopsy
aplasia/hypoplasia of the mandible
decreased t cell activation
partial duplication of the middle pinky finger bone
neurogenic muscle atrophy
decreased width of the forehead
abnormality of the ulna
impaired neutrophil chemotaxis
aplasia of the distal phalanges of the hand
absence seizures with eyelid myoclonia
fullness of tissue around the nose
map-dot-fingerprint corneal dystrophy
difficulty breathing
high blood glucose
aplasia/hypoplasia of the distal phalanx of the 5th finger
failure of development of central incisor
small tragus
bipartite calcaneus
abnormality of the cortex of foot bones
anesthetic-induced rhabdomylosis
cariosity of teeth
hypocalcemic seizures
abnormal circulating renin
eyelid bump
distal sensory loss, upper and lower limbs
abnormal vascular morphology
short palms
severe floppy baby syndrome in males
spontaneous hematomas
external auditory canal stenosis
small end part of the toe bones
oral clefting
abnormality of the end part of the outermost bone of the big toe bone
absent/hypoplastic middle phalanx of 2nd finger
neoplasm of the skeletal system
centrilobular groundglass opacification
bifid sacrum
unaided visual acuity 0.1 logmar
bracket epiphysis of the middle phalanx of the 2nd toe
atrial heterotaxy
decreased volume of upper lip
prominent coccyx
periodic hypokalemic paresis
decreased size of one side of the face
hypoplastic to absent terminal phalanges
subretinal haemorrhage
deficit in nonword repetition
neonatal short-trunk short stature
long bone shortening
broad outermost bone of the 3rd toe
abnormality of skeletal morphology
partial/complete duplication of the phalanges of the 5th toe
osteoma cutis
cortical thickening of long bone diaphyses
absent/underdeveloped pelvis muscles
cerebral amyloid angiopathy
joint hemorrhage
myelin tomacula
absent pinkie finger
branchial anomalies
abnormal vestibulo-ocular reflex
fragile teeth
intervertebral space narrowing
increased circulating ldl level
abnormal dense tubular system
reactive airway disease
diaphyseal bowing
gastrointestinal tract tumor
discrete 2 to 5-mm hyper- and hypopigmented macules
partial-complete absence of 5th digital bone
speckled calcifications in the end part of the pinkie toe bone
partial duplication of the proximal bones of the index finger
absent end part of the 4th toe bone
absent lacrimal punctum
multicentric ossification of proximal humeral epiphyses
shyness
seasonal allergy
telangiectasia of the oral mucous membrane
aplasia/hypoplasia of the uterus
hyporeflexia of upper limbs
absent central microtubular pair morphology of respiratory motile cilia
heterotaxy
abnormality of the distal tibial epiphysis
congenital palmoplantar keratodermia
bowel diverticula
renal failure in adulthood
asymmetric limb muscle stiffness
deficiency of alveolar process of jaw
buried tooth
coxa magna
small iliac bones
pituitary null cell adenoma
anodontia vera
lumbar spinal stenosis
angulated antihelix
peripheral edema
toe-walking
uterine cervix inflammation
abnormality of the thighbone
neuroblastoma
t2 hypointense basal ganglia
night sweats
humeral shortening
hypoglycaemic coma
delayed maturation of the hand bones
triangular shaped outermost bone of the ring finger
oral cavity telangiectasia
neurofibromatosis
blisters
joined teeth
abnormality of the malleus
anterior and posterior rib cupping
obligate (100%)
eeg with hyperventilation-induced generalized epileptiform discharges
abnormality of globe location
absent pubic ossification in infancy
hallucinations of sound
congenital adrenal gland hypoplasia
skin plaque
secundum atrial septal defect
bilateral coronal suture synostosis
abnormal dermatoglyphics on feet
failure of development of mandibular incisor
severe, generalized osteoporosis
laterally sparse eyebrow
congenital laryngeal stridor
fractures of vertebral bodies
mesomelic leg shortening
mucinous histiocytosis
amyotrophy of the musculature of the pelvis
abnormal brain creatine level by magnetic resonance spectroscopy
sclerosis of the phalanges of the hallux
maxillary hypoplasia
elevated plasma acylcarnitine levels
impaired visually enhanced vestibulo-ocular reflex
febrile convulsions
curved innermost bone of 2nd toe
large lower jaw
cardiomyopathy, hypertrophic
abnormal shape of hand
complete duplication of the proximal phalanx of the hallux
decreased appetite
abnormality of pigmentation
flitting flies
uveal melanoma
failure of development of deciduous maxillary lateral incisor
abnormal wide portion of innermost thighbone
abnormality of pulmonary circulation
ear, posterior helical groove
lipomatous tumor
late eruption of baby teeth
recurrent subcortical infarcts
collectionism
sclerosis of skull base
eye floaters
xerostomia
ameliorated by carbohydrate ingestion
narrowing of carotid artery
no secondary dentition
generalized hypotonia
cervical spinal cord atrophy
curved middle bone of pinky toe
abnormality of eyeball location
pigmentary changes
limited eye motility from duane anomaly
absent/small innermost bone of 3rd toe
moderately short stature
'cigarette paper scarring'
asteroid hyalosis
joint contracture of the 5th finger
oral leukoplakia
abnormality of the pancreatic islet cells
partial duplication of the proximal phalanx of the 5th toe
high urine prostaglandin levels
acute kidney injury
low blood phosphate level
precocious atherosclerosis
large primary palate bone
bundle branch block
preauricular acrochordon
lytic defects of the radius
partially dislocated innermost hinge joint of pinky finger
abnormality of long bone morphology
skin cancer
bell-shaped chest
triggered by vaccination
thickened helices
nevus flammeus nuchae
progressive leukoencephalopathy
cranial nerve abnormality
fragmentation of the epiphysis of the proximal phalanx of the 3rd finger
first-degree microtia
early dental eruption
missing upper bicuspid
short humerus
fever
increased reticulocytes
decreased serum estradiol
short outermost bone of the 4th toe
deformed humeral heads
degenerative enteric neuropathy
abnormality of bicuspid
heart rhythm disorders
lower motor neuron disease
melena
frontal lobe hypoplasia
transient myeloproliferative syndrome
hypoaldosteronism
accessory tragus
ketotic hypoglycemia
abnormal circulating insulin level
restrictive cardiomyopathy
unsymmetrical face
muscular dystrophy
abnormality of skull size
progressive spinal muscle wasting
irregular end part of the innermost pinkie finger bone
hemeralopia
platyspondyly
widow's peak
abnormal dlco
long penis
absent epiphysis of the middle phalanx of the 3rd finger
abnormality of glycolysis
gastric cancer
weight faltering
genitourinary tract neoplasm
abnormality of the uterine cervix
abnormally loose or stretchable skin
small posterior fossa
low-set, posteriorly rotated ears
abnormally small cranium
short phalanx of the fifth toe
gonadal tissue inappropriate for external genitalia or chromosomal sex
obsolete retinal striation
irregular epiphysis of the middle phalanx of the 4th toe
coarse facial features
alexia
uneven increase in bone density in the outermost bone of pinkie finger
morphological abnormality of the lateral semicircular canal
double 1st long bones of hand
notched outermost bone of the middle finger
triangular end part of the innermost bone of the pinkie toe
mood changes
sublingual ptyalocele
spastic tetraparesis
long palm
aggressive behaviour
focal t2 hyperintense thalamic lesion
abnormality of b cell number
head and neck abnormality
decreased transverse dimension of philtrum
agenesis of stensen duct
testicular tumor
triangular epiphysis of the distal phalanx of the thumb
generalized hyperpigmentation
abnormal nerve conduction velocities
small end part of the innermost bone of the big toe
neoplasia of the ureters
hyperplasia of supraorbital margins
thromboembolic stroke
wide nose
abnormality of urine alpha ketoglutarate concentration
abnormality of the renal cortex
anomaly of the joints
external ear malformations
progressive congenital scoliosis
absent/small thumb
underdeveloped crus of the helix
abnormality of lingual muscle
speckled calcifications in end part of the middle bone of the middle finger
double-outlet right ventricle
agenesis of deciduous maxillary lateral incisor
brain degeneration
abnormality of the epiphysis of the proximal phalanx of the 3rd toe
primary palate bone retrusion
scheuermann kyphosis
hay fever
brain ischemia
macrocephaly
peg shaped upper lateral incisors
increased ossification of craniofacial bones
increased anterioposterior diameter of thorax
atrophy of the cerebellar vermis
bullet-shaped middle bone of 2nd toe
triangular shaped outermost bone of the pinky toe
triphalangy of thumb
hypoplastic pilosebaceous units
premature graying of hair
venous insufficiency
csf lymphocytic pleiocytosis
biconcave vertebral bodies
decreased size of upper jaw
unilateral renal atrophy
widened proximal tibial metaphyses
looser zones
abnormal respiratory patterns
epidermal acanthosis
underdeveloped ears
partial duplication of the outermost bone of the little toe
highly variable phenotype, even within families
severe muscular hypotonia
abnormal breathing
double crown (hair whorls)
umbilical cord haematoma
hypoplasia of the pons
deposits immunoreactive to beta-amyloid protein
limited knee flexion
abnormality of sight
flexion contracture of toe
square pelvis bone
thin vermilion border
partial anodontia of deciduous teeth
myasthenic weakness
short and small iliac bones
bifid proximal phalanx of the thumb
reduced number of t cells
aplasia of the ovary
triangular shaped middle phalanx of the 2nd toe
abnormal shape of forebrain
dermatitis
increasing overgrowth of gum ridge
abnormality of tip of nose
large upper jaw
triangular shaped phalanges of the 2nd finger
socially inappropriate behavior
abnormality of histiocytes
delayed speech
keratosis nigricans
mild postnatal growth retardation
absent/underdeveloped kidney
hypoxemia
cervical cord compression myelopathy
hyperpigmentation of lip vermillion
mondini malformation
partial laryngeal atresia
mesomelic shortening of limbs
hereditary gingival fibromatosis
spasms of facial muscles
caudate degeneration
chondrosarcoma
metaphyseal fraying
branchial cleft fistula
speech and language difficulties
ablepharon of eyelid
distal symphalangism of hands
decreased circulating acth level
lytic defects of humeral diaphysis
trichilemmal cyst
abnormality of the pubic hair
11 thoracic vertebrae
premature teeth loss
aplasia of the interphalangeal creases
abnormality of heart atrium
emg: continuous motor unit activity at rest
macula abnormality
nasal voice
aplasia/hypoplastia of the eccrine sweat glands
seizure
absent 2nd toe bones
short hands
spinal fusion
bracket shaped end part of the middle bone of the pinkie finger
pupillary abnormality
abnormal ossification of the scaphoid
5-minute apgar score of 3
5-minute apgar score of 2
5-minute apgar score of 1
5-minute apgar score of 0
5-minute apgar score of 6
epilepsia partialis continua
5-minute apgar score of 4
slow-growing hair
tarsometatarsal synostosis
abnormal innermost toe bone
abnormal tendency to infections of the skin
obsolete foveal dystrophy
renal failure, progressive
palpebral thickening
abnormal posterior segment imaging
neurologic deterioration, progressive
abnormality of the suspensory ligament of lens
reduced dihydropyrimidine dehydrogenase activity
oral cleft
perineal fistula
abnormality of the epiphysis of the terminal phalanx of the little finger
abnormally shaped of reproductive cell
cylindruria
telangiectasia
synostosis of carpals/tarsals
metacarpal/phalangeal joint contractures
small twelfth rib
duplication of the innermost pinky finger bone
neoplasm of the adrenal medulla
abnormal electroencephalogram
episodic
abnormality of apophyseal joint
stiffening of wide portion of long bone of upper arm
neoplasia of the nasopharynx
csf pleocytosis
increased serum 1,25-dihydroxyvitamin d3
intermittent yellowing of skin
positional frontal plagiocephaly
speckled corneal dystrophy
big calvaria
peripheral primitive neuroectodermal neoplasm
easily distracted" broad [] {comment="layperson
breast hypoplasia
chronic calcifying pancreatitis
abnormality of ciliary ganglion
absence of lower lateral incisor
violet lip discoloration
bowed thighbone
arched eyebrows
postauricular skin tag
abnormality of the labia majora
lymphoma
abnormality of dorsal nasal artery
limited hip movement
abnormal alpha granule distribution
wide fontanelles
short proximal phalanges
abnormality of zygomaticus minor muscle
antithrombin iii deficiency
downturned mouth
growth retardation
irregular epiphyses of the 3rd toe
ragged red muscle fibers
anteverted ears
supracristal ventricular septal defect
increased scrotal rugation
impaired renal uric acid clearance
hypoplasia of the zygomatic bone
sparse-absent scalp hair
neutrophillia
pseudoepiphyses of the 5th toe
fragmentation of the end part of the middle bone of the 3rd toe
protruding back of the head
extramedullary erythropoiesis
broad middle phalanx of the 4th finger
neoplasia of the skeletal system
abnormality of the end part of middle pinky finger bone
cheekbone prominence
hypertension associated with pheochromocytoma
esophageal tumor
antimongoloid slanted palpebral fissures
abnormal spinal segmentation
choroidal neovascularization of the macula
proximal limb muscle stiffness
hutchinson's sign
cognitive impairment
absent/underdeveloped retina
fused lips
third-degree microtia
forceps delivery
abnormality of the middle phalanx of the 2nd finger
cleft of lower gum ridge
fasciculiform cataract
decreased marginal zone b cell count
decreased pulmonary function
joint dislocations
demyelinating peripheral neuropathy
talon cusps
small forehead
lacrimal punctum, absence
tortuous cerebral arteries
laquer cracks of the retina
vestibular neurilemmoma
decreased facial expressions
intermittent high blood pressure
chronic renal failure
chronic rhinitis due to narrow nasal airway
cerebral white matter atrophy
quelprud nodule
congenital contracture
absent/small bones of 4th toe
infantile death
speckled calcifications in end part of the innermost bone of the pinky toe
abnormality of lining of mouth
absent/small innermost ring finger bone
abnormality of higher mental function
twisted blood vessels
atretic lacrimal puncta
cone-shaped end part of the outermost pinkie finger bone
red and swollen gums
congenital stationary night blindness with normal fundus
wide penis
disproportionate shortening of the tibia
hairy forehead
mesenteric venous thrombosis
sound sensitivity
missing upper front baby tooth
bergmeister papilla
mild global developmental delay
longitudinal vaginal septum
stereotypic behaviors
bony spikule of ulnar epiphyseal plate
reduced plasminogen activator inhibitor 1 activity
subcutaneous nodule
multiple episodes of otitis media
impaired platelet adhesion
webbed index, middle and pinkie finger
flared wide portion of elbow bone
beauty mark
cranial nerve vi palsy
multiple duodenal polyps
absent/underdeveloped sternum
sensory ataxic neuropathy
muscle fiber atrophy
decreased size of upper lateral incisor
mandibular condyle aplasia
pituitary calcification
curved proximal phalanges of the toes
frequent caries
abnormality of the heart
myopathic facies
recurrent infections in infancy and early childhood
triangular shaped phalanges of the hand
fourth cranial nerve palsy
bladder tumor
fusion of the gingiva
abnormal jugular venous pressure
triangular shaped proximal phalanges of the hand
missing front tooth
fitzgerald factor deficiency
decreased renal tubular phosphate excretion
deep central lingual furrow
renal tubular acidosis, type i
cerebellar cyst
abnormality of amino acid metabolism
rectal tumor
lentiglobus
myocardial infarction
peripheral arteriovenous fistula
missing cartilage of nose
protuberant abdomen
extra tooth
dysplastic or absent corpus callosum
hyperactive deep tendon reflexes
decreased width of baby teeth
decreased projection of upper jaw
aplasia/hypoplasia of the cerebral white matter
uplifted earlobes
cardiac failures
abnormality of cardiac atrium
midnasal stenosis
marked delay in bone age
abnormality of pain sensation
cardiac valve calcification
severe psychomotor retardation
blind spot
single central eye
syphilitic primary incisor
cataracta pulverulenta centralis
testicular regression syndrome
vitelliform-like macular lesions
retinal cavernous angioma
coloboma of the upper eyelid
pancreatic squamous cell carcinoma
cystoid macular degeneration
puffy lids
complete duplication of the middle phalanx of the 2nd finger
delayed intellectual development
tricuspid regurgitation
multiple muscular ventricular septal defects
gradual onset
widely-spaced teeth
mydriasis
anterior wedging of t11
anterior wedging of t12
absence of bactericidal oxidative 'respiratory burst' in phagocytes
abnormal toenail development
gum hypertrophy
gingival fibromatosis
abnormality of the anterior fontanelle
triangular shaped 1st long bone of foot
localized motor seizures
abnormal walk
hyperpigmented macules
progressive choreoathetosis
hypoplasia of the brainstem
abnormality of the epiphysis of the 4th metacarpal
brain tumour
pancreatic inflammation
hypoplasia of the bladder
falciform retinal fold
progressive spasticity
impaired horizontal visual pursuit
interstitial nephritis
increased susceptibility to neisseria meningitidis infections
decreased carnitine level in liver
absent/small innermost pinkie toe bone
craniofacial dystonia
lack of sternal ossification
small intestine carcinoid
large face
progressive loss of facial adipose tissue
large cavum septi pellucidi
abnormality of bone mineralisation and ossification
breathy speech
partial duplication of the proximal phalanx of the 5th finger
unaided visual acuity 3.0 logmar
abnormality of phalanx of finger
partial anodontia of primary teeth
lingual furrow
abnormality of the cervical vertebrae
congenital conductive deafness
wide skull
abnormal thymus position
dilatation of virchow-robin spaces
broad radial epiphyseal plate
notched nasal alae
high, arched palate
adenoid hypertrophy
increased mannosylation of n-linked protein glycosylation
hypertrichosis universalis
partial thromboplastin time prolonged
compensatory chin elevation
basal ganglia oedema
mesiodens
congenital haemolytic anemia
increased bone fragility
stage 5 chronic kidney disease
short outermost bone of the pinky toe
lethal micromelic dwarfism
absence of the condylar neck of mandible
monochromacy
squared off pelvis
clinodactyly of the thumb
abnormality of the kinin-kallikrein system
hydrops fetalis, non-immune
tilted upper jaw
episodic hemolysis
angulated forearm bones
renal adysplasia
impaired b-lymphocyte isotype switching
short middle bone of 4th finger
thin face
partial anomalous pulmonary venous return
osteochondrosis of the femoral head
hypertonic dehydration
finger-like thumb
right ventricular impairment
facial swelling
short radius
increased size of incisor
congenital palmoplantar keratosis
upper limb metaphyseal widening
vertical clivus
broad outermost bone of middle finger
bilateral vocal cord paresis
pigmented nevi
red/green color vision defect
shortening of all proximal phalanges of the fingers
oral mucosa blisters
restrictive external opthalmoplegia, bilateral
underdeveloped heart
anterior open-bite malocclusion
acetonuria
small bowel agenesis
fragmentation of the epiphysis of the middle phalanx of the 3rd finger
in utero growth retardation
reduced creatinine levels
hypotrophic malar bone
knee flexion contracture
cutaneous mastocytosis
enamel abnormalities
generalized hypopigmentation of hair
transient hypophosphatemia
abnormal peripheral nervous system morphology
congenital vetricular aneurysm
obsolete congenital chorioretinal dystrophy
missing paranasal sinuses
decreased width of base of nose
short distal phalanx of hallux
absent end part of the middle bone of the little toe
dicarboxylic aciduria
absent long bone of foot
widened alveolar ridges
achromatic retinal patches
parietal meningocele
abnormal pupillary light reflex
plicated tongue
abnormality of the backbone
enlarged end part of innermost long bone of index finger
partial anosmia
scanty eyelashes
vestibular nystagmus
personality changes
inability to touch chin to chest
neck arthritis
abnormality of the end part of the hand bones
decreased aldosterone
enlarged sylvian fissure
defective humoral immunity
absence of maxillary incisor
increased bone density in pinky finger bone
angioma serpentinum
delayed ejaculation
limited pronation/supination of forearm
gastrointestinal infections, recurrent
abnormality of the eyebrow
ivory epiphysis of the distal phalanx of the 2nd finger
lactase deficiency
fusion of innermost shinbone and calf bone
complete duplication of proximal phalanx of the thumb
flaxen hair color
keratitis sicca
anterior chamber mesodermal anomalies
increased ripa
glomerular subendothelial electron-dense deposits
axial malrotation of the kidney
hydrops fetalis, nonimmune
short tubular bones
total anomalous pulmonary venous connection
supraventricular tachycardia with a manifest accessory pathway
neck flexor muscle weakness
absent end part of the outermost bone of the 2nd toe
double orifice mitral valve
increased size of upper jaw
membranous supravalvular mitral stenosis
placental abruption
fused middle bones of toes
hook-shaped clavicle
hypoplastic pubic rami
high urine threonine levels
radial deviation of hands
partial/complete duplication of the outermost bone of the index finger
plantar crease between first and second toes
double gallbladder
hypertrophy of forehead
hyperkalemic metabolic acidosis
large, late-closing fontanelle
abnormality of central nervous system electrophysiology
enlarged epiphyses of the 4th finger
enlarged uterus
diastomatomyelia
hyperostosis of cranial vault
abnormality of the foramen magnum
complete duplication of the proximal phalanx of the 5th finger
perseverative behaviour
abnormal bone maturation of vertebra
abnormality of the vertebral artery
soft tissue syndactyly of toes 2, 3, and 4
dermopathy
periauricular skin tag
eye pain
progressive sclerosis of skull base
dumbbell-shaped long bone in upper arm
decreased size of upper eyelid
asymmetry of spinal facet joints
wide intermamillary distance
isolated hypogonadotropic hypogonadism
maternal thrombophilia
prolonged euglobulin clot lysis time
midclavicular hypoplasia
fecal vomiting
high blood hydroxyproline levels
third-degree heart block
double ureter
abnormal thalamic mri signal intensity
absent epiphysis of the distal phalanx of the 5th toe
obsessive compulsive behavior
hypoglycemia
tertiary hyperparathyroidism
abnormal calf muscles
rudimentary 2nd metacarpal
moderate growth delay in children
crossed fused renal ectopia
partially duplicated ureter
decreased fucosylation of o-linked protein glycosylation
aboulia
triangular epiphyses of the proximal phalanges of the hand
distal muscle wasting
reduced arm span
anosmia
diabetic ketosis
widely patent coronal suture
sclerosis of the proximal phalanx of the thumb
abnormality of the dorsal column of the spinal cord
spondyloepimetaphyseal dysplasia
fifth finger camptodactyly
melanonychia
4th toe clinodactyly
first dorsal interossei muscle weakness
kidney disease
abnormal cervical spine
flattened metacarpal heads
abnormality of the epiphyses of the metatarsals
neoplasia of the pleura
hyperplastic helix crus
speckled calcifications in the end part of the outermost bone of the 4th toe
underdeveloped cerebellum
choroidoretinal coloboma
anterior uveitis
partial anodontia
absent pinky finger
ascending aortic dissection
inflammation of eyelids
underdeveloped fingernail of pinkie finger
subcutaneous spheroids
distal muscular atrophy
abnormality of the skull suture
uneven increase in bone density in pinkie toe bone
vascular ring of aorta
abnormality of the epiglottis
pseudobulbar palsy
heterogeneous.
abnormality of the epiphysis of the distal phalanx of the 3rd finger
triangular shaped bones of 4th toe
small epiphysis of the distal phalanx of the 2nd toe
bullet-shaped phalanges of the 4th toe
maternal anticardiolipin antibody positive
reduced catalase activity
underdeveloped fifth toenail
acrokeratosis
increased urinary galactose level
irregular end part of the little toe bone
retinal vascular malformation
hypoplasia of penis
exercise-induced leg cramps
severe
small condylar neck of mandible
conoid incisor
wide cranium shape
contracture of the proximal interphalangeal joint of the 2nd toe
absent/small 3rd long bone of hand
elevated nasal bridge
abnormality of the epiphysis of the 1st metacarpal
fibrous dysplasia of the bones
abnormality of end part of the outermost bone of the index finger
increased bone density in little toe bone
renal fibrosis
failure of eruption of adult teeth
dysplastic radii
abnormal vas deferens morphology
variable severity
absent antitragus
ivory epiphysis of the terminal phalanx of the little finger
large sternal ossification centers
increased nasal height
decreased tubular maximum for phosphate reabsorption per glomerular filtration rate
lack of subcutaneous fatty tissue
low t4
alkaline phosphytase abnormal
absent/hypoplastic thumbs
calve disease
underdeveloped frontal lobe
midline direction of ventricular apex
abnormal marginal zone b cell count
albuminuria
wrist bone/ankle bone fusions
abnormality of the cerebral falx
bence jones proteinuria
ridged fingernails
absent/underdeveloped outermost middle finger bone
increased oct-measured foveal thickness
reduced renal corticomedullary differentiation
absent nose
increased serum ck
small intestinal bleeding
1-minute apgar score of 6
obsolete bilateral choroid coloboma
thin red part of the upper lip
spinal nerve root neurofibromas, symmetric, multiple
crease in skin under the eye
darkening of skin of the lips
abnormal wrist bones
triangular shaped phalanges of the 3rd toe
partial duplication of the phalanges of the 3rd finger
abnormality of the outermost bone of the thumb
difficulty making arithmetical calculations
osseous atresia of the external auditory canal
gingival hypertrophy
epignathus
lytic cystic lesions in appendicular bones
loss of fat around neck
spinal rigidity
physical aggression
triangular epiphysis of proximal index finger phalanx
triangular epiphysis of the distal phalanx of the 5th toe
pervasive developmental disorder
bloody nose
simple kidney cyst
sagging, redundant skin
fifth finger distal interphalangeal joint symphalangism
cerebral hypomyelination
mesomelic lower limb shortening
punctate palmoplantar hyperkeratosis
narrow nasal bridge
abnormal shape of sella turcica
absent cutis congenita over parietal area
orbital encephalocele
macroprolactinoma
large mouth
supracardiac total anomalous pulmonary venous connection
abnormality of tooth eruption
congenital bilateral ptosis
episodic hypokalemia
facial shape deformation
abnormality of the foot
frontoparietal cortical dysplasia
scoliosis
eeg with occipital focal spikes
nasal mucosa telangiectasia
radial deviation of the ring finger
duplication of the 1st metacarpal
unequal nostril shape
increased liver glycogen content
short middle bone of little toe
aplasia of the middle ear ossicles
discolored lateral incisors
abnormal circulating estrogen level
sparse to absent eyebrows
molar tooth sign on mri
partial duplication of the distal phalanx of the 2nd finger
dentoalveolar abscess
duplication of the outermost bone of the 3rd toe
jaw ankylosis
sensory ataxia
ileal adenocarcinoma
tachypnea
t-wave inversion
abnormal location of heart atrium
pitted nails
panhypogammaglobulinemia
vertebral endplate irregularity
abnormality of the nares
abnormality of the end part of innermost shankbone
genital abnormalities
hypoplastic colon
short upper eyelid
slow nerve conduction velocity
nasal speech
muscular edema
nonprogressive
hyperpituitarism
tongue abnormality
notched thighbone
cerebellar cortex degeneration
macrocytic anemia
abnormality of serum amino acid levels
large cranium present at birth
abnormal gastrointestinal motility
absent/underdeveloped uterus
hypoplastic uvula
verrucae
thyroid-stimulating hormone excess
generalised
cone-shaped end part of the outermost bone of the big toe
elbow flexion contractures
square face
hypoplastic tibia
prominent epicanthal folds
myoclonic absences
patchy sclerosis of 4th toe phalanx
winged shoulder blade
pinhole visual acuity 0.1 logmar
hemoglobin h
areflexia in lower limbs
curved outermost pinky finger bone
missing all teeth
abnormality of balance
aplastic nasopharyngeal adenoids
agenesis of secondary dentition
right ventricular hypertrophy
renal chloride wasting
precocious eruption of secondary dentition
neonatal cholestatic liver disease
deformity of the supraorbital ridges
ichthyosis
aplasia/hypoplasia of the 1st metacarpal
absent epiphysis of the proximal phalanx of the 4th toe
vertical facial deficiency
malformation of head shape
metacarpal periosteal thickening
reticulate skin pigmentation
hypoplastic nail
numerous multiple fractures that are present at birth
shawl scrotum
pinhole visual acuity 0.6 logmar
neoplasm of the nervous system
malformation of the zygomatic arch
agenesis of lower incisor
decreased size of globes of eyes
absent 3rd long bone of hand
duplication of the outermost bone of big toe
short proximal phalanx of the fifth toe
absent epiphyses of the 5th toe
marked retardation in skeletal maturation
facial asymmetry
bracket shaped end part of the innermost bone of the pinky finger
frontotemporal cerebral atrophy
congenital exotropia
neoplasm of the heart
abnormal eog
angioectasia of the oral mucous membrane
bracket epiphysis of the proximal phalanx of the 3rd finger
hypomelanotic macule
high blood monocyte number
cleft lip
lymphocytosis
radial deviation of the 4th finger
short third metatarsal
fused ring finger bones
hyperkeratosis follicularis
punctate cataract
moderate conductive hearing impairment
congenital myopia
underdeveloped cervical vertebrae
abnormal localisation of kidneys
complete duplication of the innermost pinkie finger bone
decreased fumarate hydratase activity
peripheral hypermyelination
abnormality of the 4th metacarpal
cavernous haemangioma
triangular shaped mouth
tubulointerstitial scarring
skin blisters
reduction of oligodendroglia
absent permanent teeth
stiff skin
internal hemorrhage
acute myeloblastic leukemia
reduced motor nerve conduction velocity
gastrointestinal atresia
small intestinal polyp
severe myopia (> -6.00 diopters)
posterior auricular pit
spina bifida cystica
contracture of the proximal interphalangeal joint of the 2nd finger
protruding tailbone
overfolding of superior helix
ulnar deviation of the 2nd finger
wide based walk
abnormal maturation of hand bones
duplication of the middle phalanx of the 5th toe
chronic monilial nail infection
oral hairy leukoplakia
obsolete small vertebral bodies
b-cell lymphoma
abnormality of the ankles
infraorbital creases
speckled calcifications in end part of the innermost bone of the little toe
multiple bilateral chrpe
aplasia/hypoplasia of the proximal phalanx of the 5th toe
plantar teleangiectasia
submucosal cleft palate
duplication of the outermost bone of hand
duplication of the proximal phalanx of the second toe
cutaneous syndactyly of feet
lingual thyroid
increased width of cranium
hypoplastic thumb
increased bone density of end part of the innermost bone of pinkie finger
small hands
warts
periventricular white matter hyperdensities
severe recurrent varicella
localized skin lesion
absent/underdeveloped calf bone
irregular end part of the 2nd toe bone
eeg: generalised slow activity
paraganglioma
abnormal static perimetry test
small epiphyses of the 3rd finger
elf-like facial features
abnormality of homocysteine metabolism
ivory epiphyses of the 5th toe
osteomyelitis
duplication of the 1st metatarsal
hypertrophy of upper jaw
amine precursor uptake and decarboxylation tumours
sclerotic foci of humeral diaphysis
first metatarsals hypoplastic
abnormality of cranial nerve 12
nasal mucous membrane telangiectasia
skin dimple over apex of long bone angulation
bicuspid pulmonary valve
underdevelopment of nasal bone
large maxilla
absent semicircular canal
curved distal phalanx of the 5th toe
hypertrophic ichthyosis
sclerotic skull base
jaw joint sounds
underdeveloped first rib
small internal carotid artery
absent/small wrist bones
abnormal st segment
thick inner surface of the skull bones
abnormality of the uterus
abnormality of cachectin secretion
tardive dyskinesia
abnormality of parotid gland
eeg with localized low amplitude activity
kininogen deficiency
irregular end part of the middle bone of the little finger
phalangeal cone-shaped epiphyses
absent/small pinkie toe
decreased serum ceruloplasmin
eyelid stuck to eyeball
inclined forehead
retinal dystrophy with early macular involvement
conductive hearing impairment
decreased size of zygomaticomaxillary bone complex
neurologic abnormalities
stippling of the epiphyses of the middle phalanges of the hand
bracket shaped end part of 1st long bone of hand
cheilitis simplex
abducted thumb
thoracolumbar interpediculate narrowness
beaking of vertebral bodies
abnormality of fibular epiphyses
adrenocorticotropic hormone deficiency
degeneration of small hand muscles
partial/complete duplication of the phalanges of the 4th toe
delayed ability to stand
premature birth
straight collarbone
nominal aphasia
dilatated internal auditory canal
tortuosity of main retinal vessels
anomaly of the lacrimal bone
cerebrospinal fluid protein increased
sacral dimple
serous pericardial effusion
bilateral palatoschisis
downturned oral commisures
bone-in-a-bone appearance of forearm
cone-shaped end part of the innermost bone of the pinkie toe
paranoia
abnormality of nervous system physiology
broad bones of ring finger
short palpebral fissure
single median maxillary central incisor
cervical erosion
increased bone density in innermost finger bone
hypoplastic olfactory lobes
abnormal timing of pattern onset/offset visual evoked potentials
abnormality of the atrioventricular valves
precocious costochondral ossification
arterial rupture
curvilinear intracellular accumulation of autofluorescent lipopigment storage material
lip pits at corners of the mouth
abnormality of the toenail
cold-induced sweating
easy bruisability
premature loss of baby teeth
schizophrenia
small epiphysis of the distal phalanx of the 3rd toe
alobar holoprosencephaly
hypophalangy of toes
shortening of the talar neck
sacral segmentation defect
small epiphysis of the proximal phalanx of the 3rd finger
decreased number of teeth
decreased number of baby teeth
absent sperm in semen
leakage of dye on fundus fluorescein angiography
death in infancy
receding forehead
hypolipoproteinemia
absent/underdeveloped pinkie finger
nervous tissue neoplasm
elevated lung artery pressure
narrow, highly arched roof of mouth
adrenal gland carinoma
poorly ossified cervical vertebrae
chorioretinal lacunae
absent forearm bone
decreased level of thrombomodulin
ivory epiphyses of the 2nd toe
malformation of the area between the eyebrows
abnormal vein of face
complete duplication of phalanx of hand
cubitus varus
duplication of middle phalanx of toe
epidural haematoma
increased height of face
sparse medial eyebrow
transient erythroblastopenia
aplasia of the intermaxillary bone
hyperplastic femoral trochanters
increased neuronal autofluorescent lipopigment
acute constipation
wide bones of 3rd toe
acro-osteolysis of terminal index finger phalanx
aplasia/hypoplasia of the radius
abnormality of the middle bone of the pinky toe
broad middle bone of the 4th finger
hypoplastic posterior communicating arteries
widely spaced first and second toes
bifid distal phalanx of the thumb
bracket epiphyses of the 2nd toe
pilar cyst
decreased numbers of glomeruli
prominent ears
inflammation of the lymph nodes
abnormality of the accessory nerve
deviated thumb
triangular epiphysis of the middle phalanx of the 4th finger
irregular epiphysis of the 1st metacarpal
abnormality of leukocytes
partial duplication of outermost little finger bone
hulseyism
beaklike protrusion
distal lower limb amyotrophy
asymmetry of the thorax
abnormality of color vision
punctate periventricular t2 hyperintense foci
flat supraorbital margins
frontal cutaneous lipoma
medial calcification of medium-sized arteries
juxtaductal coarctation of the aorta
pulmonary valve defects
obsolete ulnar deviation of the thumb
diplomyelia
pit behind the ear
chronic oral thrush
grade iii preterm intraventricular hemorrhage
midnasal atresia or stenosis
generalized bronze hyperpigmentation
caved in nasal tip
mesoaxial polydactyly
wide radial epiphyseal plates
voice abnormality
ectopic ossification in muscle tissue
gastrointestinal stromal tumor
abnormal brain positron emission tomography
cerebellar vermal hypoplasia
fatty replacement of skeletal muscle
complete duplication of the distal phalanx of the fourth toe
abnormality of arm long bone growth plate
triangular shaped middle bone of index finger
nasal flaring
broad septum of nose
underdevelopment of parotid gland
migratory
narrow nasal septum
generalized muscular hypotonia
small epiphysis of the 1st metatarsal
osteolytic defects of the outermost bone of the 2nd finger
torticollis, congenital
missing tooth root
diaphyseal bowing of long bones
anomaly of the face
periorbital rhytids
long facies
abnormal hyaline collagen
neonatal jaundice
acquired microcephaly
anomalous rib insertion to vertebrae
cuboidal metacarpal
malaligned philtral ridges
adrenal overactivity
deficit in phonologic short-term memory
muscle atrophy, distal
gastrointestinal polyps
defective dna repair after ultraviolet radiation damage
reduced factor xii activity
highly arched eyebrow
glabellar abnormality
gemination of tooth
scleral staphyloma
uneven increase in bone density in the outermost bone of the 2nd toe
cartilaginous ossification of nose
supernumary hair swirls
increased bone density in pinky toe bone
incomplete partition of the cochlea
pulmonary artery sling
periarticular subcutaneous nodules
cranial nerve disease
ocular coloboma
increased projection of mandible
fetal hypokinesia
obsolete progressive bifocal chorioretinal atrophy
pilonidal cyst
no development of motor milestones
notched terminal thumb phalanx
gallbladder dyskinesia
abnormality of fatty tissue
distortion of the bones of the nose
premature delivery
occlusive arterial disease
generalized myoclonic seizures
spondylometaphyseal dysplasia
excessive bleeding from superficial cuts
failure of development of lateral incisor
bullet-shaped outermost bone of the toe
primary hyperaldosteronism
high blood creatinine level
curvature of 2nd toe
increased antibody level in blood
peripheral sensory axonal neuropathy
abnormality of the vitamin b3 metabolism
elevated 8(9)-cholestenol
irregular epiphyses of the 2nd finger
obsolete abnormality of globe location or size
small radial epiphyses
right sided atrium to left ventricle and absent left sided atrioventricular connection
short distal phalanx of the 3rd finger
abnormal hemoglobin
prolonged whole-blood clotting time
external ear malformation
dull
low levels of immunoglobulin a
humeral oval transradiancy
abnormality of the fontanelles or cranial sutures
abnormality of the round window
bone hypertrophy
hypoplasia of the eighth cranial nerve
bullet-shaped distal phalanx of the 4th toe
intellectual impairment
curved linear dimple below the lower lip
triangular end part of the index finger
3-methylglutaric aciduria
decreased length of bridge of nose
absence of maxillary premolar
terminal tremor
abnormal head
abnormality of the middle bone of the little toe
bronze skin
arginine deficiency
hypotrophic antitragus
abnormality of the eyelid
elevated serum creatine kinase
deformity of the orbital region of the face
short toes
abnormality of dorsoventral patterning of the limbs
insidious onset
lytic defects in metaphyses of the upper limbs
genitourinary abnormality
broad 1st metatarsal
vestibular neurolemmoma
fragmentation of the epiphysis of the 1st metacarpal
irregular femoral epiphysis
vision loss, progressive
absent outermost little finger bone
uneven increase in bone density in outermost toe bone
urogenital anomalies
glioneuronal tumor
excluded
height less than 3rd percentile
osteolytic defects of the proximal phalanx of the 3rd finger
primary peritoneal carcinoma
fetal pinkie finger curvature
prominent umbilicus
clubbing of toes
parietal cortical atrophy
small epiphysis of the middle phalanx of the 3rd finger
abnormal circulating follicle-stimulating hormone level
addison's disease
fatigable weakness of speech muscles
bilateral microtia
big skull present since birth
early balding
conoid maxillary incisor
fusion involving the bones of the lower limbs
rudimentary tricuspid valve leaflets
absent ossification/absence of radius
cardiomyopathy, esp. right ventricular
caries
unilateral brachydactyly
adie's tonic pupil
aplasia of the fovea
inability to walk
anomaly of the orbital region of the face
butterfly vertebrae
decreased volume of frontal sinuses
sun sensitivity occuring early in life
hypertrophy of the internal surface of the frontal bone
low parathyroid hormone
non-small cell lung carcinoma
abnormality of the pinkie finger
decreased corneal thickness
impaired ig class switch recombination
spinal stenosis with reduced interpedicular distance
decreased level of tissue plasminogen activator
obsolete respiratory difficulties
upper limb hypertonia
prominent schwalbe lines
neoplasm by anatomical site
upper jaw deficiency
breathing difficulties
polycystic ovary disease
hypertensive disorder of pregnancy
hypertrophy of incisor
mouth sore
concave nasal ridge
underdeveloped/absent pec muscle
osteolytic defects of the proximal phalanx of the 3rd toe
small anterior nasal spine
irregular ossification of hand bones
eye movement-induced pain
abnormality of the lens
stippling of the epiphyses of the 2nd toe
irregular proximal tibial epiphyses
posteriorly sloping forehead
sclerotic foci of metaphyses of the elbow
small end part of middle finger bone
lymphatic obstruction
abnormal liver function tests during pregnancy, resolves postpartum
abnormality of the end part of outermost shinbone
abnormal concentration of calcium in blood
abnormality of the hip-girdle musculature
absent tendon reflexes
abnormality of the end part of the long bone of little finger
neoplasm of the pharynx
infantile hypercalcemia
absent end part of innermost long bone of index finger
enlargement of skull bones
wide forehead
reduced muscle fiber lamin a/c
low posterior hairline
carpal and tarsal fusions
precocious puberty in females
elevated white blood count
rectal fistula
scrotal hypospadias
ethmocephaly
coronary sinus atrial septal defect
unusual dermatoglyphics
abnormality of the outermost bone of the 2nd finger
abnormality of the musculature of the lower limbs
triangular shaped bone of second toe
crossed asymmetry of pattern reversal visual evoked potentials
small epiphysis of the distal phalanx of the 2nd finger
abnormality of the proximal phalanx of the 2nd toe
gray matter heterotopias
absent central incisors
enlarged metacarpal epiphyses
rictus grin
bacterial infections, recurrent
psychomotor retardation
abnormality of liver blood vessels
blood protein disease
seventh cranial nerve palsy
fatigue
distal femoral metaphyseal abnormality
tapering toes
williams-fitzgerald-flaujeac factor deficiency
arthralgia
1-2 finger syndactyly
stippling of the epiphyses
joint pains
hyperplastic callus formation
persistence of primary teeth
patchy sclerosis of the proximal phalanx of the hallux
abnormal circulating luteinizing hormone level
hypocalciuria
sclerosis of the proximal phalanges of the hand
peripheral visual field constriction with 20-30 degrees central field preserved
type ii cryptotia
vascular calcification
nummular pigmentation of the retina
dislocated femoral heads
primary adrenocortical failure
limited hip extension
patchy sclerosis of the middle phalanx of the 3rd toe
vestibular dysfunction
maxillary hyperplasia
pectus deformities
abnormal palmar dermatoglyphics
dysesthesias
abnormality of hindbrain morphology
disproportionate short-trunked dwarfism
transverse maxillary insufficiency
abnormality of the pelvic girdle
fingerprint intracellular accumulation of autofluorescent lipopigment storage material
widened nasal bridge
hypoplasia of the external ear
disinhibition
biconcave 'codfish' vertebrae
distal ulnar epiphyseal stippling
hypophosphatemia
blue/yellow color vision defect
abnormally shaped wrist bones
digitalization of thumbs
absent epiphysis of the 1st metatarsal
absent gonadal tissue
abnormally straight spine
pharyngeal neoplasm
aphthous ulcers
deformity of the frontal bone
hyporeflexia
agenesis of first permanent molar tooth
reduced immunoglobulin levels
pinhole visual acuity 1.2 logmar
failure of development of tongue
fused middle bone of ring finger
abnormality of the eyelids
decreased lower limb vibratory sense
vulvar melanoma
spermatic cord torsion
abnormality of the talus
obsessive-compulsive traits
enlarged epiphyses of the hallux
fish vertebrae
cone-shaped end part of the 1st long bone of foot
broad middle bone of 2nd toe
sclerosis of the distal phalanges of the toes
sclerosis of bones of skull
aphalangy
hypocholesterolemia
abnormality of bone mineral density
aplasia of the nasal bone
easily confused
low blood sugar after a meal
premature loss of deciduous teeth
dysplastic fingernails
increased bone density in pinkie toe bone
corneal abnormality
metaphyseal rarefaction
burkitt lymphoma
broca's aphasia
triangular index finger phalanges
transient global amnesia
hypoplastic/small distal phalanx of the 2nd finger
short proximal phalanx of finger
delayed closure of the bregma sutures
abnormality of facial muscles
aplasia of the forearm bones
narrowing of lung artery
chronic myelogenous leukemia
type 3 ventricular septal defect
hypertrophic labia minora
cortical irregularity of humeral diaphysis
increased bone density of end part of the middle bone of the 4th toe
enlarged end part of the toe bones
abnormality of palatoglossus muscle
everted prominent lower lip
hypoplastic nails
distal tapering of metatarsals
abnormality of refraction
keratan sulfate excretion in urine
absence of the septum pellucidum
agenesis of primary maxillary central incisor
fragmentation of the epiphysis of the proximal phalanx of the 5th finger
ectopic parathyroid
abnormal neuron morphology
extraocular muscle paralysis
toe extensor amyotrophy
rash
unaided visual acuity 1.0 logmar
small end part of pinkie finger bone
symphalangism of middle phalanx of 3rd finger
tendon xanthomatosis
six lumbar vertebrae
broad facies
decreased intestinal transit time
absent middle finger
forward facing earlobe
unerupted dentition
peg-shaped teeth
pseudoepiphysis of the distal phalanx of the 5th finger
fused bones of 4th toe
isoelectric focusing of serum transferrin consistent with cdg type ii
gm2-ganglioside accumulation
intraventricular hemorrhage
drusen
thick calvarium
wide/broad metaphyses of the upper limbs
abnormality of mesentery morphology
premature chromatid separation
increased serum testosterone level
stereotypic behavior
cystitis of the urinary bladder
osteolytic defects of the middle phalanx of the 3rd toe
patent urachus
cognitive decline
absent proximal finger flexion creases
thin septum of nose
thinning and bulging of posterior skull bones over the transverse sinuses
skewed maternal x inactivation
short ear
aplasia/hypoplasia of the 5th toe
syndactyly of second to fourth fingers
deep median lingual groove
small epiphyses of the 2nd toe
functional abnormality of male internal genitalia
prominent jaw
thin innermost bone with broad end part of the hand bone
increased t3/t4 ratio
nuchal rigidity
abnormal serum level of immunoglobulin
triangular shaped distal phalanges of the toes
abnormal number of adult teeth
abnormality of glycosphingolipid metabolism
abnormality of phosphate homeostasis
embryonal neoplasia
low 1-minute apgar score
pyridoxine-responsive sideroblastic anemia
keyhole iris
lipoma of corpus callosum
muscle fibre atrophy
small epiphyses of the 4th toe
tonsils large/hypertrophy
visible nasal septum
papilledema
distal ileal atresia
flat feet
increased height of chin
facial palsy secondary to hypertrophy of cranial bones
nodular septal thickening
cor triatriatum dexter
scleral schwannoma
deviated septum of nose
increased size of nose
high axial triradius
bilateral facial muscle paralysis
broad wide portion of shinbone
sclerotic ulna
double inlet atrioventricular connection
absent/underdeveloped lower limb bones
triangular shaped outermost bone of the middle finger
impaired speech development
triangular bones of index finger
cone-shaped epiphyses of middle phalanx of index finger
nasal tip, depressed
velopharyngeal incompetence
decrease in size of half of face
exaggerated median tongue furrow
precociously ossified tarsal bones
duplication of the innermost little finger bone
decreased taste sensation
cone-shaped end part of the innermost bone of the 3rd toe
penoscrotal hypospadias
sarcoma
desquamation of skin soon after birth
hypoplastic clavicles
hyporeflexia in lower limbs
elbow dislocations
prominent eyebrows
bracket epiphysis of the middle phalanx of the 4th finger
blistering, generalized
abnormal serum interferon level
vertebral compression
prolonged bleeding following procedure
vertical chin skin cleft
triggered by fasting
increased head circumference
lipoatrophy
absent/small outermost middle finger bone
severe pyorrhea
aplasia of the 4th finger
hypocapnia
cortical cysts
absent scrotum
abnormal sperm development
dislocated hips
decreased pain sensation
abnormal von willebrand factor multimer distribution
triangular epiphysis of the distal phalanx of the 5th finger
abnormal arm span
lack of fat in blood
abnormal emotion/affect behaviour
arteriosclerosis
enlarged wide portion of a long bone
congenital blindness
vestibular abnormality
abnormality of shape of premolar
abnormal liver function tests
large epiphyses
abnormality of the end part of the middle bone of the 2nd toe
wide proximal phalanx of the 5th finger
partial duplication of the middle little finger bone
abnormality of the vitamin b12 metabolism
abnormality of the end part of the outermost thighbone
midline defect of chin
absent frontal sinus
complete duplication of the distal phalanx of the 5th toe
swelling around the eyes
anomaly of base of nose
sensitivity to sunlight
bilateral renal dysplasia
enlarged end part of the innermost bone of the pinky toe
abnormality of the skin of the palm
epiphyseal sclerosis
abnormality of the scalp hair
extralobar sequestration
notched front deciduous tooth
plaque build-up in arteries
infra-orbital crease
prolonged partial thromboplastin time
missing facial bones
shortened long tubular bones
thin vermilion borders
abnormality of the clitoris
hypoplastic optic disks
abnormality of the nasal mucosa
obsolete pharyngeal neoplasm
saccular conjunctival aneurysms
hyperconvex vertebral body endplates
curved proximal phalanx of the 3rd toe
failure of development of upper eyelashes
hypoplasia of tip of nose
perifoveal ring of hyperautofluorescence
pectoralis amyotrophy
abnormal sialylation of n-linked protein glycosylation
wide jaw
deep palmar creases
decreased serum ferritin
severe hydrocephalus
absent ossification of capital femoral epiphysis
ventricular septal defect, muscular
abnormality of placental membranes
thin bony cortex
oligohidrosis
premature rupture of membranes
osseous syndactyly of toes
decreased immunoglobulin g
helix, crus, absent
decreased immunoglobulin a
degenerative vitreoretinopathy
abnormal shape of ankle bones
anomaly of the fontanelles
irregular capital femoral epiphysis
stomatitis
distal tapering femur
hoarse cry
meningoencephalocele
exophthalmos
polysyndactyly of hallux
increased iga level
irregular end part of the outermost bone of the pinkie toe
distal sensory impairment in lower limbs
distal limb muscle weakness due to peripheral neuropathy
corticospinal tract pallor
patchy sclerosis of the proximal phalanx of the 3rd finger
reduced muscle fiber alpha sarcoglycan
widened gap 1st-2nd toes
defective enamel matrix
absent end part of the outermost bone of the pinky toe
prominent ear
increased pigmentation in scrotum
hearing loss, high-frequency
lateral humeral condyle aplasia
dental problems
patch of white hair
recurrent urinary tract infections
flat back of the head
deep central lingual groove
brain stem compression
flat acetabular roofs
cystic ovaries
cogwheel rigidity
abnormal body mass index
gastrointestinal dysmotility
superior oblique palsy
flat proximal femoral epiphyses
anus malposition
mixed hearing impairment
absent muscle fiber beta sarcoglyan
broad radioulnar joints
macular thickening
epiphyseal deformities of tubular bones
tetralogy of fallot with pulmonary stenosis
trigonocephaly
arterial tortuosity, generalized
obsolete retinal pigment epithelial atrophy
uneven increase in bone density in the outermost little toe bone
limited peripheral vision
thick skull bones
cupped ulnar metaphysis
diaminoaciduria
crusting erythematous dermatitis
teratospermia
oropharyngeal dysphagia
pulmonary edema
spurred radial metaphysis
acidemia
hypokalemic hypochloremic metabolic alkalosis
exencephaly
cerebral granulomatosis
absent/underdeveloped shoulder muscles
hypoplastic brain stem
curved outermost pinkie finger bone
unilateral wrist flexion contracture
slowed nerve conduction velocities
acanthosis nigricans
abnormality of palatine uvula
muscular atrophy, generalized
vertical enlargement of face
pupillary abnormalities
uneven increase in bone density in innermost toe bone
absent innermost bone of little finger
absent/small foot bones
decreased cervical spine mobility
atretic auditory canals
abnormality of the anterior segment of the globe
mental and motor retardation
abnormality of bone mineralization of cranium
triggered by vestibular stimulation
low maternal serum hcg
hypoplastic-absent toenails
iliac crest serration
generalized edema
mirror image dupliction of toes
urinary excretion of sialylated oligosaccharides
neuroendocrine carcinoma of the skin
intrinsic hand muscle atrophy
abnormality of canine
fingernail dysplasia
chylous ascites
tracheal calcifications
fabry syndrome
short/absent middle phalanges
pruritis on hand
abnormal neck of thigh bone
ketonuria
microphthalmia
abnormality of the pulmonary valve
neoplasia of the middle ear
lactose intolerance
enlarged end part of the innermost bone of the 4th toe
focal autonomic seizures without altered responsiveness
foveal photoreceptor layer loss on macular oct
failure of development of canine
ivory epiphysis of the proximal phalanx of the 4th finger
abnormality of toe proximal phalanx
abnormality of the 3rd long bone of hand
decreased circumference of cranium
curved innermost bone of little finger
absent brainstem auditory responses
irregular epiphysis of the proximal phalanx of the hallux
contractures of the toes
proximal femoral epiphysiolysis
abnormality of chromosome condensation
abnormal erythrocyte volume
small end part of the outermost bone of the pinkie toe
proximally placed carpal bones
additional crus
thin nasal tip
absent innermost bone of the 3rd toe
chronic mucocutaneous candidiasis
simple fever fit
decreased finger mobility
decreased urinary chloride
total intestinal aganglionosis
pilonidal abscess
preaxial polydactyly, feet
small pelvis
leukoencephalopathy, progressive
abnormality of the middle phalanx of the 4th toe
infraorbital fold
obsolete finger joint hyperextensibility
abnormal unaided visual acuity test
folate deficiency
optic nerve aplasia
twitching
blonde eyelashes
abnormality of the posterior segment of the globe
progressive extrapyramidal muscular rigidity
block vertebrae
loose-jointedness
focal necrosis of right ventricular muscle cells
choreiform movements
eeg with generalized polymorphic epileptiform discharges
triangular shaped phalanges of the hallux
intraventricular arachnoid cyst
uneven increase in bone density in hand bones
increased bone density in big toe bone
scleroderma
small cranial sutures
broad middle 4th toe bone
lobe, forward facing
fused bones in the pinkie toe
ear anomalies
late-onset spinocerebellar degeneration
anticentromere antibody positivity
absent/small index finger bone
shrinking of alveolar ridges
deviation of the lower jaw
flared femoral metaphysis
large cranium present since birth
facial anomaly
excessive bleeding during surgery
atherosclerosis
duplication of phalanx of the 3rd toe
amyloid deposition in the vitreous humor
increased fat below the skin in trunk
transverse maxillary deficiency
small and flat posterior fossa of skull
uterine fibroid
abnormality of the heart valves
molarization of premolar
abnormal glucose oral tolerance test
small end part of innermost long bone of the middle finger
paroxysmal supraventricular tachycardia
encephalitis
small distal phalanx of hallux
presacral teratoma
vertebral segmentation defect
compensated disseminated intravascular coagulation
cleft lower alveolar ridge
flattened nasal bridge
club foot
flared nasal alae
urocanic aciduria
central nervous system disease
pancreatitis, acute
congenital heart defects
cuboid vertebral bodies
hypoplastic ischial bones
arthralgia of the hip
retina degeneration
proximal limb muscle weakness
abnormality of the chest
abnormality of zygapophysial joint
metaphyseal irregularities
wide shaft of long bone in upper arm
cone-shaped epiphysis of the 1st metacarpal
humeroulnar synostosis
ectopic accesory toe-like appendage
knee joint valgus deformity
increased hair density
recurrent upper and lower respiratory tract infections
abnormality of the pleura
severe hypoplasia of mandible
abnormality of the wide portion of upper limb bone
hyperorality
low blood triglyceride levels
halberd-shaped pelvis bone
uneven mouth
increased length of upper eyelashes
nonmotile sperm
weight faltering in infancy
triangular shaped middle little finger bone
lax abdominal musculature
abnormality of the sixth cranial nerve
abnormal pigmentation of oral cavity
osteomyelitis leading to amputation due to slow healing fractures
cervical vertebral abnormalities
cranial nerve motor loss
hypersalivation
club foot on both sides
abnormality of the skeletal system
chylothorax
hallucination
optic disk coloboma
stippling of the epiphysis of the middle phalanx of the 4th toe
reduced iga levels
underdeveloped innermost upper end of calf bone
abnormality of the innermost finger bones of the hand
exercise-induced muscle cramping
abnormality of the hypothenar eminence
overlapping toes
aplastic/hypoplastic lacrimal glands
prenatal growth failure
obsolete radially deviated index finger phalanges
thin corpus callosum
hyperostosis
abnormal confrontational visual field test
double urinary collecting systems on intravenous pyelography
absent knee epiphyses
thin anteverted nares
wide space between 1st, 2nd toes
lissencephaly type iii
pulmonary lymphangiomyomatosis
cervicomedullary schisis
abnormality of the wide portion of a long bone
thalamic haemorrhage
ectopic thymus tissue
abnormality of the epiphyses of the fingers
underdevelopment of the innermost thighbone end part
tufted angioma
partial duplication of the innermost pinkie finger bone
phacodonesis
vasculitis in the skin
pancreatic endocrine tumor
dental agenesis
obsolete clitoromegaly
aplastic/hypoplastic metatarsals
deep central tongue furrow
abnormality of the proximal phalanx of the ring finger
hemiatrophy
high urine arginine levels
lower back pain
curved little toe bones
hour glass shaped sella turcica
aplasia/hypoplasia involving bones of the upper limbs
hyperalaninemia
dumbbell-shaped metaphyses
calvarial hyperostosis
mild intrauterine growth retardation
stippled calcification proximal humeral epiphyses
deficiency of upper jaw bones
poorly ossified vertebrae
triangular shaped distal phalanx of the 5th finger
septum primum defect
abnormality of the infraorbital nerve
preretinal hemorrhage
wide lateral eyebrow
enlarged epiphysis of the middle phalanx of the 4th finger
truncal obesity apparent in childhood
advanced ossification of the humeral epiphysis
small head circumference present at birth
dry mouth syndrome
round mid-back
asymmetric ears
partial duplication of the proximal phalanx of the 2nd toe
intestinal lymphedema
uneven increase in bone density in 1st long bone of hand
facial flushing after alcohol intake
malformation of cranium shape
eyelid coloboma
partial duplication of the innermost bone of big toe
upward angulation of nail
abnormality of the common coagulation pathway
triangular end part of the thumb bone
metaphyseal flaring
steroid-resistant nephrotic syndrome
hyperinsulinemic hypoglycemia
sparse or absent eyelashes
odontogenic neoplasm
lazy eye
absent/small ulna
subcutaneous neurofibromas
abnormality of the cortex of the humerus
loss of tactile sensation
cutaneous melanoma
shortened metacarpals
fingerpad telangiectases
renal juxtaglomerular cell hypertrophy/hyperplasia
myoclonic seizures
absent/small diaprhagm
pseudoepiphysis of the proximal phalanx of the 5th toe
abnormal blood clotting
hypoplasia of parotid gland
conical incisor
increased bone density in the finger bone
sparse to absent pubic hair
arterial occlusion
proximal lower limb muscle atrophy
failure of development of the condylar process of mandible
aplasia/hypoplasia of the premaxilla
abnormal c-peptide level
abnormality of shade of lateral incisor
joint pain
sex addiction
abnormality of the liver vasculature
clinodactyly of second toes
perilobar nephrogenic rest
complete heart block with narrow qrs complexes
canted maxilla
calcific mitral valve stenosis
hypogonadotrophic hypogonadism
increased thickness of cranium
increased iron concentration in liver
bracket shaped end part of index finger
nasal elongation
renal tubular acidosis
small right heart chamber
deviation of the upper jaw
intracranial hypertension
tetraamelia
pulp calcifications
abnormality of the elbow
bilateral fourth metatarsal shortening
abnormal auditory evoked potentials
nodular corneal dystrophy
blood clot in a deep vein
osteolytic defects of the phalanges of the hand
single central upper incisor
asymmetry of the breasts
notching of thumb phalanges
impaired social interactions
abnormal female genital system physiology
joint disease
abnormality of corneal endothelium
progressive drooping of upper eyelid
complete duplication of the distal phalanx of the hallux
infantile respiratory distress
accessory phalanx of the thumb
abnormal cerumen pigmentation
motor polyneuropathy
delta-shaped epiphysis of the middle phalanx of the 5th finger
macular cherry red spot
eyelashes fell out
delta-shaped epiphysis of the distal phalanx of the 4th finger
curly eyelashes
cutaneous finger syndactyly
hand bone sclerosis
low glucose levels in cerebral spinal fluid
thin lower jaw
increased bone density with cystic changes
constrictive median neuropathy
short middle phalanx of the fifth toe
cognitive deficits
joint contracture of the hand
segmental additional circular muscle coat
epiphyseal stippling of finger phalanges
increased serum creatinine
nuclear pulverulent cataract
narrow anterio-posterior vertebral body diameter
stiff hinge joints
sebaceous carcinoma
hepatic steatosis
spasmodic dysphonia
polysyndactyly of great toe
abnormal palmar dermal ridges
marked hypotrichosis
abnormal intrauterine movements
cerebellopontine angle arachnoid cyst
glucosuria
somatic mutation
cone-shaped end part of the middle bone of the middle finger
morning generalized tonic-clonic seizures
fasciculations
round end part of upper limb bones
absent end part of the innermost bone of the 2nd toe
abnormal spit
atrophy of small intestinal villi
facial telangiectasia
increased size of calf muscles
atypical mole
flaring of rib cage
bossing of parietal bone
high urine lactic acid levels
abnormality of the 3rd finger
narrow intervertebral spaces
accessory index finger phalanges
irregular end part of the middle bone of the 4th toe
late closure of the bregma sutures
arcus senilis
hyperacusis
narrow auditory canals
bracket epiphyses of the 5th toe
tombstone-shaped proximal phalanges
lack of facial subcutaneous fat
hardened artery wall in small cerebral arteries
uneven increase in bone density in the innermost bone of the 4th toe
delayed tooth eruption
pseudarthrosis of the forearm bones
introversion of eyelashes
bone cysts
tympanic nerve tumors
intrahepatic bile duct cysts
prominent crus of helix
gingival calcification
abnormality of lower pharynx
abnormality of the coronary sinus
schwannomas
absent vaginal lips
glomerulocystic kidney disease
synostosis involving bones of the lower limbs
bullet-shaped middle phalanx of the 4th finger
woolly hair
congenital drooping upper eyelid
hypoplastic vertebral pedicle
splayed superior cerebellar peduncle
rales
delayed pubic bone ossification
ccam
cafe-au-lait spots
abnormality of muscles of the pharynx
congenital stationary night blindness
increase in size of the facial bones
hypocalcemia
thyroid defect in oxidation and organification of iodide
negative chorea
chapped lips
oral idiopathic keratosis
nonprogressive visual loss
abnormality of vitamin d metabolism
abnormal renal physiology
abnormality of inferior rectus extraocular muscle
contracture of the distal interphalangeal joint of the 5th finger
absent end part of bone
muscle fiber hyaline bodies
rhomboid shaped head
non-immune fetal hydrops
darwin tubercle of helix
increased bone density in the middle bone of the pinkie finger
atrioventricular nodal tachycardia
abnormality of the little finger bone
hyperopia
stomach ulcer
chilblain lesions
aplasia/hypoplasia of the sweat glands
difficulties with night vision
left ventricular diastolic dysfunction
enlarged lateral fissure
microdontia of primary teeth
female sexual dysfunction
amnestic aphasia
corneal deposits
cone-shaped end part of long bone fused within their wide portion of wide bone
microdontia
webbed neck
hypoplastic optic nerves
dunbar syndrome
macroorchidism, postpubertal
dislocated knee since birth
long-segment aganglionic megacolon
hypoplastic/small middle phalanx of the 4th finger
vaginismus
right bundle branch block
epileptiform eeg discharges
mesomelia
posteriorly rotated ears
hyperossification of skull
pseudoepiphyses of the metacarpals
incomitant strabismus
bracket shaped end part of the innermost bone of the pinkie toe
hyperostosis of mandibular bone
obsolete periosteal new bone of middle phalanx of middle-finger
abnormality of the maxilla
fused end and middle bones of little finger
sclerosis of thumb phalanx
underdevelopment of tip of nose
large cerebral ventricles and cisternae
symphalangism affecting the 1st metacarpal
abnormality of dental enamel
progressive cognitive decline
abnormalities of the peripheral arteries
sandwich appearance of vertebral bodies
cerebral hamartomata
fetal hyperkinesia
bracket epiphysis of the distal phalanx of the 3rd finger
prominent finger pads
dense skull cap
incoordination of limb movements
striae atrophicae
irregular end part of the long bone of hand
lipomas of the central neryous system
unilateral facial muscle paralysis
thin philtrum
urethral stricture
gestational diabetes
subretinal hemorrhage
narrow interpedicular space
stenotic external auditory canal
degenerative joint disease
proximal upper limb amyotrophy
short proximal middle-finger phalanx
absent fingers
broad 5th toe
low urinary cyclic amp response to pth administration
marked growth retardation
retinal artery tortuousity
increased length of face
increased skull ossification
gait disturbances
cystocele
sertoli cell neoplasia
elevated hepatic transaminases
allergic conjunctivitis
variable phenotype
low urine sodium levels
fused thoracic vertebrae
neocortical dysplasia
patchy sclerosis of the phalanges of the 5th toe
square iliac bones
missing nostrils
posterior cerebral artery stenosis
increased female libido
cellulitis of upper eyelid
neck muscle weakness
reduced/lack of hair on scalp
autoimmune haemolytic anaemia
absent end part of the middle bone of the pinky toe
low-set frontal hairline
pulmonary situs inversus
vitreous strands
renal tubular acidosis, proximal
cone shaped front baby tooth
bifid nose
grouped congenital hypertrophy of retinal pigment epithelium
asymmetric septal hypertrophy
reduced muscle fiber beta sarcoglycan
intestinal lymphangiectasia
fusion of cervical vertebrae
increased body temperature, episodic
broad innermost ring finger bone
small epiphyses of the upper limbs
fine motor disability
abnormality of the wing of the ilium
decreased vibratory sense in the lower extremities
juvenile epithelial corneal dystrophy
hemoptysis
auricular malformation
absent/small muscles of extremities
absent outermost bone of the pinky toe
posterior pituitary dysplasia
abnormality of the eye region
premature deciduous tooth loss
intellectual disability, profound
short distal phalanx of the second toe
large skull present at birth
triangular end part of the little toe bone
generalized tonic-clonic seizures
type d brachydactyly
vaginitis
hemopericardium
increased body mass index
pointed maxillary incisor
hypoplastic earlobes
absent breast
tibial bowing at ankle
lipodystrophy
cough
thick skin of soles
facial paralysis
spider veins of the oral mucosa
aplasia of the middle phalanx of the hand
eeg with centrotemporal focal spike waves
flexion contracture of digit
abnormality of the end part of the outermost bone of the thumb
underdeveloped kneecap
notch of alveolar process
increased bone density of end part of the innermost bone of the pinkie toe
cosman ear
absent/underdeveloped biceps
tarsal osteolysis
limited mouth opening
thyroid-stimulating hormone receptor defect
split uvula
lumbar gibbus deformity
missing teeth
abnormal genital pigmentation
hyperuricemia
deviation of the 5th finger
shoulder girdle muscle wasting
handgrip myotonia
frontal release signs
hyperplasia of zygomatic bone
bilateral cryptorchidism
recurrent klebsiella infections
abnormality of galactoside metabolism
decreased blood leukocyte number
absent/underdeveloped innermost thumb bone
hypertrophy of facial bones
1-5 toe syndactyly
hypersplenism
rosenthal fibres
left unilambdoid synostosis
testicular fibrosis
aplasia of the distal phalanx of the 4th finger
thyrotropin deficiency
reduction in b cell number
hypoplasia of condylar process of mandible
calcification of cartilage
cystinuria
epiphyseal streaking
open bite between upper and lower teeth
increased length of toes
webbed 4th-5th toes
anterior cupping of ribs
sclerosis of the phalanges of the toes
small nasal alae
atypical or prolonged hepatitis
oligonephronia
immune dysregulation
decreased head circumference
infraorbital crease
abnormality of the epiphysis of the distal phalanx of the hallux
convex contour of sole
partial or complete wasting (loss) of hypothalamus tissue that was once present.
supraventricular tachycardia with an accessory connection mediated pathway
fatty deposits on eyelids
irregular thumb epiphysis
cryptorchidism, bilateral
morbilliform
hyperreflexia in upper limbs
wedge-shaped vertebrae
abnormality of proprioception
septal defects
abnormality of liposaccharide metabolism
thick internal surface of the frontal bone
pyramidal skinfold extending from the base to the top of the nails
patellar aplasia/hypoplasia
gap between first and second toe
bilateral cataracts
eeg with 3-4-hz spike waves
shark tooth incisor
abnormality of frontal process of maxilla
clinodactyly of the 5th finger
female external genitalia in individual with 46,xy karyotype
aplastic/hypoplastic toenail
low blood magnesium levels
hematological abnormality
curved 5th toe phalanx
uneven increase in bone density in innermost index finger bone
optic atrophy from cranial nerve compression
chin, h-shaped groove
curved ulna
autoimmune disorders
tapered metacarpals
reading disability
short phalanx of the 4th toe
fleischer-kayser ring
abnormality of the cerebral arterial circle
cerebellar purkinje layer atrophy
neoplasia of the thyroid gland
hemifacial atrophy
small epiphyses of the distal phalanges of the hand
sinus infection
localized autonomic seizures without altered responsiveness
osteolytic defects of the phalanges of the 4th toe
conductive hearing loss, severe
defective cellular immunity
abnormality of the epiphysis of the femoral head
hepatic vein thrombosis
intercostal muscle weakness
tower cranium shape
heterochromia iridis
fullness around the eyes
hair growing down to cheek
complete duplication of the middle bone of the ring finger
aplasia of cupid's bow
legg-perthes disease
decreased width of upper lateral incisor
carpal bone malsegmentation
abnormality of the 2nd toe
delayed motor development
dyspnea
hair abnormality
small proximal femoral epiphyses
syndactyly of toes 4 and 5
calcium phosphate urolithiasis
mesoaxial hand polydactyly
hypoammonemia
enlarged mesenteric lymph node
generalized hypertrichosis
ivory epiphyses of the 5th finger
lobular carcinoma in situ
bifid ribs
prominent palmar flexion creases
hyperreflexia
broad pinky finger bones
hooding of eyelids
multiple lipomas
hypogonadism
hypertrichosis
splenomegaly
absent/small outermost finger bone of the hand
pulmonary valve atresia
screwdriver shaped front teeth
venous occlusion
shortened 5th long bone of hand
uneven increase in bone density in the outermost bone of the 3rd toe
underdeveloped pituitary gland
prominent lower lip vermilion
osteolytic defects of the proximal phalanx of the 5th toe
abolished electroretinogram
functional abnormality of the middle ear
abnormality of tooth part
normochromic microcytic anemia
upper limb muscle hypertrophy
abnormality of visual tracking
macular dystrophy
hypoplastic nasal septum
enlarged vertebral pedicles
osteolytic defects of the distal phalanx of the 4th toe
noninflammatory retina disease
broad distal phalanx of the 3rd toe
macular telangiectasia
lytic defects of the humerus
mottled pigmentation of the trunk and proximal extremities
decreased number of sternal ossification centers
calf muscle pseudohypertrophy
wide distal femoral metaphysis
proximal
small placenta
bilateral acoustic neuromas
soft tissue swelling of interphalangeal joints
abnormality of the hepatic vasculature
preaxial polydactyly of the feet
brain swelling
bracket epiphysis of the middle phalanx of the 5th finger
tetraphocomelia
increased ossification of mandible
central opacification of the cornea
trilobar skull shape
pre-eclampsia
abnormality of synovial bursa morphology
hemorrhage of the eye
elfin ear
narrowing of kidney artery
hypermyelinated retinal nerve fibers
vitritis
posterior plagiocephaly
thin nail
oral bleeding
prominent globes
episodic apnea induced by febrile illness or stress
obsolete early cataracts
progressive sensorineural hearing impairment
ovarian neoplasia
abnormality of the substantia nigra
plica palpebronasalis
hyperpigmented streaks
narrowing of the ureter
abnormal cholesterol homeostasis
flat posterior cranium
small end part of the index finger
increased immature b cell count
myiodeopsia
midline sinus of philtrum
dystrophic thickened nails
hypoplasia of the ovary
scalp hypersensitivity
increased size of neck muscles
malformation of facial bones
finger joint hypermobility
abnormal visual behavior for age
lacrimation abnormality
sclerosis of the distal phalanx of the 5th finger
vocal cord paralysis
broad mandible
decreased csf glucose
defective b cell activation
failure of development of first permanent molar
neoplasm of the middle ear
pointed innermost long bone of hand
unusual mouth shape
embryotoxon
aplasia/hypoplasia of the middle phalanges of the toes
loss of ability to walk in early childhood
chronic metabolic acidosis
pretibial myxedema
triangular epiphyses of the metacarpals
chronic csf lymphocytosis
circumlimbal hyperaemia
periodontal disease
bilateral ductus botalli
partial fusion of tarsals
crus of helix connected to antihelix
retarded growth
abnormality of the spinal meninges
thin skull bone
t-cell lymphoma/leukemia
number of teeth decreased by more than six
abnormality of ion homeostasis
hiccup
sweet craving
congenital septal defect
obsolete foveal hyperplasia
restrictive ventricular septal defect
prominent sternum
abnormal isoelectric focusing of serum transferrin, type i pattern
dislocation of the femoral head
short innermost toe bone
columella extends below the ala nasi
stippling of the epiphysis of the distal phalanx of the 4th toe
increased circulating beta-2-microglobulin level
high liver enzymes
lower jaw excess
small end part of the outermost bone of little finger
left posterior hemiblock
aplasia of the distal phalanx of the 3rd toe
delayed carpal bone age
blood clot in portal vein
large open anterior fontanelle
abnormal anthelix
absent palm lines
vitamin c deficiency
dysmyelinating leukodystrophy
increased urinary sulfate
labial hypoplasia
femoral acetabular impingement
abnormality of the 1st metacarpal
biparietal narrowing
fatty tumors on upper eyelids
sneeze
catecholamine levels abnormal
polypnea
migraine headache
hyperplastic colonic polyposis
midface capillary hemangioma
dry eyes
broad head shape
proximal muscle weakness in lower limbs
dystonic movements
peg-fed in infancy
facial hirsutism
irregular epiphysis of the middle phalanx of the 2nd toe
abnormality of mylohyoid muscle
speckled calcifications in end part of the innermost long bone of index finger
bracket epiphysis of the distal phalanx of the 2nd toe
small end part of upper limb bones
anemic pallor
natal teeth
restricted large joint movement
sparse eyebrow
increased bone density in the middle bone of the middle finger
terminal phalangeal hypoplasia of hand
increased bone density in middle finger bone of hand
annular pancreas
hyperplasia of paranasal tissue
paternal anticipation bias
cleft nostril
villous atrophy
urticarial plaque
tetra-amelia
complete diaphragmatic absence of pericardium
short pointed phalanges
fusion of vertebral bodies
increased dermatoglyphic whorls
capsular cataract
congenital posterior urethral valve
midface, flat
abnormal size of the palpebral fissures
abnormality of neutrophil morphology
amniotic constriction rings of legs
absent bridge of nose
abnormality of the mucous membrane layer of stomach
generalized muscle degeneration
triggered by startle
absent end part of thumb innermost long bone
dermagraphism
mandibular retrognathia
absent mandible
phthisis bulbi
exercise-induced rhabdomyolysis
distal motor neuropathy
large end part of long bone in upper arm
obsolete hypopigmented fundi
rieger anomaly
s-cone monochromacy
discrete intestinal polyps
small tooth
osteolysis of talus
hematologic disease
symptomatic seizures
abnormal amniotic fluid
slender long bones with narrow shaft
fused middle finger bone
elevated serum pth
invaginated nipples
abnormality of body height
flat forehead
beta-galactosidase-1 deficiency
abnormality of the mouth floor
supraventricular tachycardia with a concealed accessory pathway on the right free wall
abnormality of the pia mater
hearing loss, progressive sensorineural
decreased circulating luteinising hormone level
limited knee extension
elongated philtrum
iga nephropathy
acanthotic epidermis
malformation of face
precocious puberty with sertoli cell tumor
dihydropyrimidine dehydrogenase deficiency
helix, crus, prominent
large humeral epiphyses
pigmentary retinal degeneration
cloudy lens
missing fifth toenail
abnormal hand morphology
hypoplastic sacrum
absent malleus
joint stiffness
ketonemia
ivory epiphysis of the middle phalanx of the 3rd toe
hyperoxemia
corneal arcus
chronic noninfectious lymphadenopathy
eeg with central focal spike waves
abnormality of cranium size
axonal regeneration
partial/complete duplication of the phalanges of the 3rd toe
complete duplication of the innermost 4th toe bone
bloating
underdevelopment of premaxilla
abnormality of the skull base
reduced dystrophin staining in muscle
dense posterior cortical cataract
severe periodontal disease
bradycardia
fusion of thumb bone
bracket shaped end part of the outermost pinkie finger bone
nystagmus, horizontal
partial absence of lower eyelashes
abnormality of the anus
l-looping of the right ventricle
broad chest
duplication of the proximal phalanx of the 2nd toe
symphalangism of the 4th finger
abnormal hair quantity
small philtrum
stippling of the epiphysis of the distal phalanx of the 5th toe
hypertrophic nerve changes
triangular end part of the innermost bone of pinky finger
small end part of middle long bone of 4th toe
white streaks/specks on enamel.
nevus anemicus
persistent open anterior fontanelle
limbal neovascularization
large dysplastic ears
distal shortening of ulna
abnormality of the big toe
progressive ventriculomegaly
partial/complete duplication of the middle bone of the ring finger
preauricular skin furrow
syndactyly of feet
lower limb amyotrophy
absent end part of the innermost bone of the pinkie toe
ectopia of the spleen
mesangial hypercellularity
fusion of metatarsals
long nose
thin tooth enamel
hypoglycemic coma
abnormality of the middle bone of the pinkie toe
hypoplastic/small distal phalanx of the thumb
unaided visual acuity 0.5 logmar
triangular epiphyses of the 4th toe
tongue fasciculation
notched outermost bone of the index finger
solar keratosis
exostoses of the radius
midperipheral
abnormality of the renal medulla
abnormality of the testis
biconcave vertebrae
aplasia/hypoplasia of the corpus callosum
broad proximal phalanges of the hand
factor x deficiency
increased adiponectin level
distal sensory impairment of all modalities
speckled calcifications in the end part of the outermost hand bones
midclavicular aplasia
deep-set eyes
hypoplasia of alveolar ridge
coaractation of the aorta
hyposmia
symphalangism affecting the middle phalanx of the 5th toe
decreased size of bridge of nose
megaloblastic erythroid hyperplasia
abnormality of the atrial septum
temporal skin defect
aplasia/hypoplasia of the tibia
abnormal facial muscle tone
hyperplasia of malar bones
dystrophic fingernails
wide capital femoral epiphyses
iris brushfield spots
pierre-robin anomaly
thin, atrophic scars
low muscle tone
duplication of the middle bone of the 4th toe
blue nevus
irregular acetabular roof
plagiocephaly
vertebral compression or collapse
bracket epiphysis of the middle phalanx of the 4th toe
prenatal maternal abnormality
binge and purge
abnormality of the epiphysis of the distal phalanx of the 4th toe
cerebral cystic malformation
myxoid liposarcoma
abnormal wide portion of elbow bone
increased prpp synthetase
spinal arteriovenous malformation
cone-shaped epiphysis of the proximal phalanx of the 5th finger
cortical white matter abnormalities seen on mri
anomic aphasia
left aortic arch with retroesophageal right subclavian artery
skin hyperelasticity
labia minora hypertrophy
absent/underdeveloped forearm bones
increased bone density in 2nd finger bone
vestibular hypofunction
focal eeg abnormality
nodular transformation of liver
uterus didelphys
generalized osteoporosis with pathologic fractures
best corrected visual acuity 1.3 logmar
stiff toe
enhancement of the c-reflex
abnormality of vaginal lips
ileus
fewer primary teeth than normal
speech delay
flattened epiphysis
phalangeal dislocation
absent/underdeveloped fallopian tube
prominent metopic suture
reduced serum ferritin
subretinal pigment epithelium hemorrhage
doll-like facial appearance
acute myelocytic leukemia
genital abnormality
abnormal fingernail development
absent/small quadriceps
severe expressive language delay
harelip
cortical visual impairment
cardiac rhabdomyoma
abnormal male germ cell morphology
osteosclerosis of the clavicle
skeletal muscle fibrosis
aplasia of the pectoralis major muscle
small maxillary lateral incisor
fused ankle bones
obsolete laterally deviated thumb phalanges
small abnormally formed scapulae
ambiguous atrioventricular connection
dwmh
bladder carcinoma
lower extremity weakness
unicoronal synostosis
hearing loss, congenital sensorineural
prominent u wave
cortical diaphyseal thickening of the upper limbs
giant cell hepatitis on liver biopsy
long thorax
multiple skeletal anomalies
abnormality of the end part of the outermost long bone in upper arm
aplasia/hypoplasia of the abdominal wall musculature
type iii truncus arteriosus
deformity of the zygomatic arch
small epiphysis of the middle phalanx of the 2nd finger
breast fibroadenoma
thickened facial skin with coarse facial features
peripheral vitreous opacities
nasal hypertrophy
endocarditis
unilateral renal agenesis
sclerosis of foot bone
partial duplication of the thumb bones
short eyelid
pediatric glaucoma
bullet-shaped middle bone of the pinkie toe
otalgia
decreased finger movement
premature loss of permanent teeth
schwann cell tumor
duplication of terminal thumb phalanx
patchy sclerosis of the distal phalanges of the toes
cystic kidney disease
placoid macular lesion
hypoplastic gallbladder
small mandible
neoplasm of striated muscle
increased startle response
ivory epiphyses of the 4th finger
angioectasias of the tongue
abdomen abnormality
failure of development of permanent molar
penetrating foot ulcers
cone-shaped end part of the outermost hand bones
aplasia of the femoral neck
type 2 truncus arteriosus
prominent antihelix
thick alveolar ridges
enlarged clitoris
missing more than six teeth
curved proximal toe phalanx
milia
short middle bone of index finger
primary congenital glaucoma
poor swallowing
hypoplastic/small middle phalanx of the little finger
gait instability, worse in the dark
small iliac wings
sclerosis of the middle phalanx of the 3rd finger
eczema
absent b cells
face tumor
hyperconvex toenail
decreased ability to sweat
telecanthus
fused innermost and middle bones of 4th toe
chronic leukemia
aortic dilatation
preauricular fistulas
increased bone density of end part of the outermost middle finger bone
congenital hemolytic anemia
autosomal dominant type
cone-shaped end part of the outermost pinky finger bone
bone-in-a-bone appearance of wrist bones
scar tissue
ureter fissus
aplastic clavicles
hyperplasia of facial adipose tissue
white matter abnormalities
midline cleft of upper alveolar ridge
short digits on one side
fifth finger distal phalanx clinodactyly
abnormality of the distal ulnar epiphysis
flared distal fibular metaphysis
congruous hemianopsia
sclerocystic ovaries
peg shaped primary incisor
slender long bone of upper arm
abnormality of the end part of the pinkie toe bone
decreased central vision
hyperfibrinolysis
pigmentary retinal deposits
bimanual synkinesia
irregular end part of the innermost bone of the pinkie toe
unbalanced face
immature tooth enamel
absent end part of the outermost bone of the 3rd toe
propionicacidemia
electroencephalogram abnormalities
gastroparesis
meconium ileus on ultrasonography
underdeveloped iris dilator muscle
adenoids small or absent
bifid thumb distal phalanx
absent/underdeveloped little finger
missing permanent lower front tooth
myotonia
ring fibers
glomerular deposits
anemia corrected by uridylic acid and cytidylic acid
dislocated arm joints
vermiculata atrophoderma
silvery-gray hair
neoplasia of the pharynx
absent/small lower limb bones
hypernatremia
eyelid synechiae
enlarged cerebral ventricles
uranostaphyloschisis
neuroplasm of the autonomic nervous system
urinary infection
aplasia/hypoplasia of the inner ear
growth failure
cerebellar signs
failure of development of premaxilla
abnormality of the distal phalanx of the hallux
large lateral palatal ridges
progressive loss of subcutaneous adipose tissue from face
decreased amount of facial fat
lip telangiectasia
recurrent hypoglycemic episodes
increased bone density of end part of the outermost bone of the pinky toe
small end part of the innermost bone of the 2nd toe
narrowing of the urethra
lesion of mouth
hypnagogic hallucinations
bullet-shaped distal phalanx of the 2nd finger
malposition of incisors
juvenile osteochondrosis of the spine
upslanted palpebral fissure
joint hypermobility
turridolichocephaly
cervical aortic arch
normochromic anemia
renal atrophy
central scotomata
progressive spinal muscle degeneration
aplasia of nasal tip
cerebral softening
difficulty swallowing
curved innermost bone of index finger
absent 5th metatarsals
hyperpigmentation of the scrotum
joint contracture
abnormality of internal carotid artery
cone/cone-rod dystrophy
underdeveloped gonad
excessive sweating of palms and soles
t-cell chronic lymphocytic lymphoma/leukemia
abnormal eyelashes
abnormal skin pigmentation
duplication of the middle pinkie finger bone
hemorrhagic ovarian cyst
tortuous retinal vessels
anterior bowing of tibia
encephalocele
duplication of the proximal phalanx of the thumb
urinary urgency
obsolete progressive macular scarring
difficulty climbing stairs
oromotor apraxia
distal amyotrophy, especially of the hands and feet
unicameral bone cyst
skin fragility
hour glass shaped hypophysial fossa
fragmentation of the epiphysis of the proximal phalanx of the 4th finger
interosseous muscular atrophy
absent lower vagina
total anosmia
early onset absence seizures
abnormality of the eardrum
aplasia/hypoplasia involving the sinuses
abnormal full-field electroretinogram
generalized erythrodermia
reduced electroretinogram rod b-wave
abnormal visual accommodation
supraventricular arrhythmia
small scapula
obsolete hypoplasia of deltoid muscle
hypertrophy of cheeks
muscle lipidosis
decreased spontaneous movements
broad columella
costochondral junction pain
interosseus muscle atrophy
aplasia/hypoplasia involving the femoral head and neck
skin laxity
insulin-resistant diabetes mellitus
hemolytic-uremic syndrome
delayed language development
humeral cortical thinning
bone spicule pigmentation of the retina
episodic generalized hypotonia
short middle phalanx of the 3rd toe
hypoplastic calcaneus
hyperplasia of foramen magnum
enlarged end part of thumb long bone
cystic kidneys
pancreatic pseudocyst
ocular colobomas
absent inner dynein arms
increased bone density of end part of the middle bone of the middle finger
missing ethmoid sinuses
myoclonic spasms
chronic lung disease
ovarian carcinoma
sclerosis of the distal phalanges of the hand
abnormality of icosanoid metabolism
abnormal renal morphology
metacarpal diaphyseal endosteal sclerosis
increased caudate lactate level
genitourinary tract neoplasia
abnormality of femoral head development
abnormal urinary amino-acid findings
abnormality of the tibial plateaux
absent epiphysis of the 1st metacarpal
red in the face
vitreous detachment
absent/underdeveloped outermost 3rd toe bone
underdeveloped male genitalia
postnatal growth retardation
increased bone density of end part of the 4th toe bone
enamel hypoplasia
dysarthric speech
external genital hypoplasia
bifid terminal phalanx of the 4th finger
odontoid hypoplasia
impaired neutrophil bactericidal activity
subretinal hyporeflective spaces on macular oct
absent knee jerk reflex
absent/underdeveloped ovary
partial/complete duplication of the distal phalanx of the 5th toe
corticotropin-releasing hormone deficient adrenal insufficiency
widened cavum septum pellucidum
oligohydramnios
chalazoderma
fragmentation of the epiphysis of the distal phalanx of the 5th finger
thrombophilia
denervation of the diaphragm
abnormality of the proximal phalanx of the 2nd finger
facial paresis
libman-sacks lesions
midgut malrotation
ekg: t-wave inversion
abnormal shape of the palpebral fissure
lipogranulomatosis
sarcomatoid carcinoma of the tongue
facial puffiness
angina pectoris
abnormalities of placenta or umbilical cord
patchy sclerosis of the distal phalanx of the 2nd finger
absent epiphysis of the proximal phalanx of the 4th finger
frontolimbic dementia
irregular epiphysis of the distal phalanx of the 4th toe
limb incoordination
basal lamina 'onion bulb' formations on nerve biopsy
laryngomalacia
nevus sebaceous
warfarin-induced skin necrosis
meckel diverticulum
pigmented macular degeneration
accelerated skeletal maturation
tunnel vision
koenen tumor
hypocalcification of dental enamel
delayed motor skills
hydrocephaly
ivory epiphyses
abnormality of nervous system morphology
abnormality of the femora
increased serum ferritin
abnormal eye movement
neurological speech impairment
tarsal stippling
thymus hyperplasia
protrusio bulbi
widely patent fontanels and sutures
lou gehrig's disease
peripheral pulmonic stenosis
occasional neurofibromas
absent in utero ossification of vertebral bodies
glossitis areata exfoliativa
abnormality of blood glucose concentration
status asthmaticus
non-medullary thyroid carcinoma
abnormalities of sweating
neurodevelopmental regression
rapid progression
abnormal number of t cells
severely impaired vision
decreased space in hinge joint
abnormality of the phalanges of the ring finger
temperature instability
rod cone dystrophy
abnormal autonomic nervous system morphology
abnormal pattern electroretinogram
philtral ridges, malaligned
absent epiphysis of the proximal phalanx of the thumb
irregular epiphysis of the distal phalanx of the 3rd finger
absent/underdeveloped pinky toe bones
short facies
increased extraneuronal autofluorescent lipopigment
marked shortening of tibia
narrow nail
prematurely aged face
absent/small thigh muscles
increased serum alkaline phosphatase
duplication of the middle phalanx of hand
intermittent painful muscle spasms
large posterior fontanel
anti-lkm-1 positive
increased ossification of mandibular bone
thick skin around nails
thickened nails
asymmetric upper limb shortening
mulberry molar
crooked teeth
abnormal capillary physiology
perirenal hematoma
conduction deafness
neck muscle hypoplasia
ageneis of nasal septum
agenesis of primary maxillary lateral incisor
eruption, advanced
orofacial dyskinesia
enlargement of craniofacial bones
abnormality of the caudate nucleus
abnormal estermann grid perimetry test
malformation of the dorsum of nose
abnormality of ear lobe
tumor of the nose
aplasia/hypoplasia of the extremities
triangular end part of the innermost bone of little finger
oculomotor neuropathy
abnormality of the urachus
hypoplastic/small middle phalanx of the 2nd finger
neoplasia of the central nervous system
oromandibular dystonia
decreased height of mandibular ramus
webbed 1-5 fingers
micrognathia of lower jaw
hidden ear
dilated pupil
diminished movement
azoospermia
hunched back in infancy
abnormality of the scrotum
maternal hyperphenylalaninemia
wrinkles around the eyes
congenital thrombocytopenia
symmetrical, oval defects in the parietal bone
frontal balding
no adult dentition
long tailbone
irregular epiphysis of the middle phalanx of the 3rd finger
elevated serum transaminases during infections
membranous cataract
anterior tongue-like protrusion of lumbar vertebral bodies
11 pairs of ribs
abnormality of the leydig cells
broad alveolar ridges
hypotrophic maxillary lateral incisor
deformity of pituitary fossa
small end part of the middle bone of the ring finger
hypoplastic 5th lumbar vertebrae
rhabdomyolysis with exercise
prognathism
green colored teeth
cerebral cortical atrophy
decreased size of premaxilla
abnormality of pattern visual evoked potentials
absent internal auditory canal
disturbances of consciousness
minimal change nephropathy
proximal femoral metaphyseal irregularity
hypoplastic/small distal phalanx of the 4th toe
cavitation of the basal ganglia
astrocytoma
congenital defect of the pericardium
ectopia cordis
cafe-au-lait macules
narrow palm
jaw joint popping sound
delayed nerve conduction velocity
depressed cheeks
cerebellar hemorrhage
missing eyebrow
neoplasm of the endocrine system
osteolytic defects of the middle phalanges of the toes
cranial dystonia
dialeptic seizures
submucous cleft velum
3-methylglutaconic aciduria
sinus tachycardia
generalized dental spacing
double inlet to single ventricle with common atrioventricular orifice
extrahepatic biliary duct atresia
pseudoepiphysis of the 2nd metacarpal
restrictive behaviour
posteriorly placed tongue
rectal bleeding
delayed ossification of the hand bones
loss of myelinated fibers
accumulation of muscle fiber desmin
congenital decreased head circumference
trifascicular block
abnormal bone ossification
elevated creatine phosphokinase after exercise
mental retardation, mild
foot osteomyelitis
absence of the nasal bone
thrombocytosis
segmental demyelination/remyelination
abnormal gyration
best corrected visual acuity 2.0 logmar
extra wrist bones
forearm reduction defects
common brachiocephalic trunk
cortical thinning of foot bones
xanthine stones
hypoplastic thumb phalanges
retinal cavernous hemangioma
renal anomalies
prominent lateral palatal ridges
onset in neonatal period
increased size of cheeks
neurogenic muscle atrophy, especially in the lower limbs
decreased serum factor b
abnormal retina
increased bone density of end part of the big toe bone
abnormality of the lower jaw bone
failure of development of primary maxillary lateral incisor
aplasia/hypoplasia of the nasal septum
symphalangism affecting the distal phalanges of the hand
night blindness since birth
tongue thrusting
abnormal corpus callosum
retraction of the tongue
spinal dimple
concentric narrowing of visual field
chronic liver inflammation
blue-yellow dyschromatopsia
fragmentation of the epiphysis of the proximal phalanx of the 4th toe
increased serum iga
abnormality of the epiphysis of the middle phalanx of the 2nd toe
complete duplication of the outermost bones of the hand
absent/underdeveloped end part of innermost thighbone
muscle fibrillation
small hand
muscle fiber degeneration
systemic artery abnormality
absence of overlap of upper and lower teeth
nasal tip, upturned
decreased vertical length of upper lip
amnesic aphasia
narrowed sacrosciatic notch
abnormality of the 3rd long bone of foot
aplastic/hypoplastic halluces
increased bone density of end part of the thumb
alopecia totalis
elevated crp
small dilated blood vessels in fingerpads
hypoplastic toenails
abnormality of periauricular region
syndactyly of toes
excessive skin wrinkling on dorsum of hands and fingers
neonatal teeth
darkening of skin around the mouth
abnormal isoelectric focusing of serum transferrin, type 2 pattern
partial absent skin pigmentation
underdeveloped sweat glands
biventricular heart with straddling right sided atrioventricular valve and absent left sided atrioventricular connection
impaired use of nonverbal behaviors
retarded mental development
triangular shaped innermost bone of the 4th finger
missing mandibular lateral incisor
hypotension
short middle bones (feet)
pelvic asymmetry
cerebral av malformations
snake tongue
basal ganglia edema
perifascicular muscle fiber atrophy
calcium phosphate nephrolithiasis
osteolysis involving tarsal bones
diastema between maxillary central incisors
preauricular skin sulcus
osteolytic defects of the phalanges of the 3rd finger
pseudosyndactyly
noninsulin-dependent diabetes mellitus
increased mean platelet volume
absent bone of big toe
completely missing eyeball
irregular epiphyses of the 4th finger
humeroradial synostosis
pulmonary situs ambiguus with bilateral morphologic left lungs
phenotypic variability
failure of development of mastoid
infantile sensorineural hearing loss
aphalangy of the hands
metamorphopsia
arthralgia/arthritis
delayed maturation fo the end part of the upper limb bone
bullet-shaped 1st long bone of hand
abnormality of the gallbladder
knee osteoarthritis
fluid imbalance
absence of cd8+ t cells
malformation of the zygomatic bone
stomach diverticulum
chubby cheeks
abnormality of neutrophil
anterior subcapsular cataract
small epiphysis of the proximal phalanx of the 4th toe
decreased circulating follicle stimulating hormone level
absent internal genitalia
small end part of proximal long bond of index finger
triangular shaped hand bones
partially dislocated innermost hinge joint of pinkie finger
neoplasm of the tracheobronchial system
phonophobia
malposition of teeth
hypoplastic pinna
embryonal tumors
coloboma of lower eyelid
xanthelasma of eyelid
broad chin
absent ear lobes
broad-based gait
curved phalanges of the 3rd toe
bracket epiphysis of the distal phalanx of the thumb
poor prothrombin consumption
hypoacusis
radiocapitellar dislocation
abnormally shaped vertebrae
polydactyly affecting the hallux
cone-shaped end part of the index finger
decreased elbow extension
pelvic girdle weakness
absence of facial bones
diffuse optic disc pallor
pointed hand bones
sternal punctate calcifications
type ii truncus arteriosus
absent distal phalanx of the third toe
lethal short-trunk dwarfism
distal/middle symphalangism of 5th finger
hypoplastic/aplastic distal phalanx
reduced visual acuity
non-detectable photopic erg
abnormality of the posterior cranial fossa
abnormality of the cervical spine
cerebral atrophy, frontotemporal
resorption of alveolar ridges
unaided visual acuity 0.3 logmar
rubral tremor
short attention span
saddle nose
everted lower lip
wide outermost bone of the 2nd toe
eyelid nodules
missing lower front primary tooth
decreased memory b cell count
conjunctival hyperaemia
high-output congestive heart failure
flexion contractures of knees
leydig cell neoplasia
plaque build-up in arteries supplying blood to heart
muscle weakness, shoulder-girdle
comma-shaped scaphoid
thyroid lymphangiectasis
agenesis of mandibular premolar
malabsorption of cyanocobalamin
missing molar
horizontal acetabular roof
thyroid lymphangiectasia
lower thoracic kyphosis
fatigable weakness of respiratory muscles
abnormality of the mineralisation and ossification of bones of the hand
increased height of lower lip vermilion
methioninemia
pelvic bone asymmetry
abnormality of the knee
non-secretory adrenal adenoma
irregular dentition
de morsier syndrome
nuchal cord
abnormal small intestinal mucosa morphology
bloody diarrhoea
gouty arthritis
plasma factor v elevated
abnormality of lower limb joint
blood hyperviscosity
impaired smooth pursuit
short 3rd finger
polycythemia
abnormality of thumb epiphyses
decreased sensitivity to hypoxaemia
large kidneys
osteolytic defects of the proximal phalanx of the 4th toe
hypertrichosis, congenital anterior cervical
abnormality of mucosa of nose
high frontal hairline
dyslipidemia
brachymelic dwarfism
increased breadth of tip of nose
absent deep tendon reflexes
brisk lower extremity reflexes
abnormality of great auricular nerve
abnormal odontoid process
increasing size of gum ridge
leukocyte cylindruria
overriding scrotum
inflammation of the lips
narrowness of interpediculate distances in lower thoracic regions
functional abnormality of the esophagus
brain neoplasm
deficient skull ossification
autism
vascular tortuosity
small epiphysis of the proximal phalanx of the 4th finger
difficulty speaking
retinal neovascularisation
bifid terminal phalanx of the 3rd finger
action tremor
obsolete radially displaced proximal index finger phalanx
fusion of the left and right thalami
triangular end part of the outermost bone of the pinkie toe
increased circulating follicle stimulating hormone level
abnormality of circulating leptin level
dysphasia
metaphyseal irregularity
narrow nasal tip
dysplastic tricuspid valve
irregular end part of the elbow bone
abnormality of fatty acid metabolism
aplasia/hypoplasia of the 3rd finger
absent maturation of end part of long bone in upper arm
abnormality of the level of lipoprotein cholesterol
ulnar metaphyseal irregularity
fragmentation of the end part of the outermost bone of the pinky toe
triangular shaped outermost bone of the thumb
wide/broad proximal index finger phalanx
low implantation of the thumb
psychotic mentation
persistent arterial duct
vacuum extraction
methylmalonic acidemia
high, rounded eyebrows
bracket shaped end part of the innermost bone of the 2nd toe
dissociated sensory loss
cerebellar gliosis
endplate irregularities
prominent back of the skull
central sinus of philtrum
increased fractures
bullet-shaped phalanges of the toes
persistent hypertrophic primary vitreous
ulnar deviation of the hand or of fingers of the hand
bone-marrow foam cells
absent calf bone
memory loss
absent/small lungs
bifid distal phalanx of toe
normal-density transverse humeral bands
wide 4th toe
big upper jaw
anterior chamber cyst
curved bones of 4th toe
irregular epiphyses of the fingers
partial duplication of the distal phalanx of the 2nd toe
underactive thyroid
increased alkaline phosphatase
abnormal nail growth
absent lymphatic vessels
elevated antinuclear antibody
brain calcification
recurrent hypoglycemia
tibial pseudoarthrosis
syndactyly
celiac disease
increased facial adipose tissue
talipes valgus
abnormality of the tragus
missing adult lower lateral incisor
partial functional complement factor d deficiency
pseudoepiphysis of the distal phalanx of the 2nd finger
morbus koehler
decreased depth of eye sockets
periorbital hyperpigmentation
cerebellar vermis hypoplasia
decreased nasal breadth
increased fat tissue
frequent vomiting
lobe, uplifted
bone marrow biopsy shows megaloblastic erythroid hyperplasia
delayed skeletal development
pulmonary lymphangiectasia
aplasia of the middle phalanx of the 3rd toe
spider veins of the roof of the mouth
fused innermost bone of little toe
pulmonary lymphangiectasis
spasmus nutans
uneven increase in bone density in the innermost thumb bone
enlarged metacarpophalangeal joints
eeg with frontal sharp waves
short pinky toe bone
hypoplasia of the lower eyelids
agenesis of molar
flexion contracture of the 5th toe
dilated cerebral ventricles
neonatal respiratory distress
ventricular tachycardia
abnormal tongue
forked tongue
abnormality of muscle of nose
aplasia/hypoplasia of the sacrum
median supernumary tooth
severe demyelination of the white matter
absent/underdeveloped palm crease
contracture of the proximal interphalangeal joint of the 4th toe
hypoplastic iliac wings
irregular end part of the ring finger bones
wide long bones
patchy hypopigmentation
abnormal serum folate
poor growth
hemifacial hypertrophy
sparse axillary and pubic hair
reduced anterior-posterior diameter of vertebral bodies
deficient excision of uv-induced pyrimidine dimers in dna
a condition in which both eyes beat ourward simultaneously.
thumbs hypoplastic with bulbous tips
segmental peripheral demyelination
broad shaft of long bone of the upper limbs
unilateral
best corrected visual acuity 3.0 logmar
absent musculature
unilateral cheiloschisis
abnormality of the pineal gland
oral aversion
agenesis of corpus callosum
oligodactyly
absent distal phalanges
cardiovascular disease
fifth finger mid-phalanx hypoplasia
anomaly of shaft of long bone of lower limb
abnormal number of permanent teeth
epiblepharon
sea-blue histiocytosis
supraventricular tachyarrhythmia
superior rectus atrophy
brachydactyly type d
uneven increase in bone density in innermost finger bone
wide outermost pinky finger bone
short thumb
foam cells in visceral organs and cns
thrombocytopenia, congenital
complete duplication of the phalanges of the 2nd finger
pineal cyst
gingival hyperkeratosis
indentation of chin
decreased sweat pores
diffuse cerebral atrophy
curvature of finger
deformity of lip
postauricular fistula
fusion of hamate and capitate
anterior rounding of vertebral bodies
brachyturricephaly
thick neck
crooked nostrils
thickened cranial vault
missing central incisors
abnormal mitochondrial morphology
absent epiphyses of the 5th finger
demyelinating sensory neuropathy
sacrococcygeal teratoma
spinalarachnoid cyst
malpositioned teeth
hypertrophy of tip of nose
short ulnae
blind-spot enlargment
crural hernia
synostosis of the proximal phalanx of the thumb with the 1st metatcarpal
wide innermost bone of index finger
pigeon chest
eeg with focal sharp slow waves
absent/small outermost pinky toe bone
low-frequency sensorineural hearing loss
low blood serine levels
dystrophic toenails
intellectual disability, mild
full lower lip
laryngotracheal stenosis
high anterior hairline
lingual hypokinesia
resorption of alveolar margins
ejaculatory incompetence
sacralization of the fifth lumbar vertebra
abnormality of the inferior oblique muscle
supernumerary vertebral ossification centers
cardiac arrhythmias
retinal pigment epithelial mottling
splenic abscess
civatte bodies
absent ossification/absent ulna
gum disease
caesarian section
paired helical filaments
infected joint
abnormality of proximal middle-finger phalanx
osteolytic defects of the proximal phalanges of the toes
hypoplasia of the colon
uneven increase in bone density in the outermost bone of the thumb
underdeveloped ulna
proximal upper limb muscle hypertrophy
autosomal dominant somatic cell mutation
small proximal phalanx of hallux
full thickness defect of the upper eyelid
increased bone density in 4th toe bone
recurrent protozoan infections
petit mal seizures
childhood glaucoma
abnormality of the thumbs
abnormal urine alpha-ketoglutarate concentration
scanty adipose tissue
concrete spinal bone
poor motor coordination
fragmentation of the end part of the outermost bone of the 3rd toe
abnormality of the platysma muscle
hypoplasia of the pituitary gland
acute lymphoid leukemia
recurrent upper respiratory and lower respiratory infections
hyperzincemia
partial/complete duplication of the distal phalanx of the 3rd toe
mottled pigmentation of oral mucosa
language development deficit
pseudoepiphysis of the outermost bone of the thumb
progressive proximal muscle weakness
frontal lobe dementia
menigiom
hypoplastic lung
acute myelogenous leukemia
mediosternal, longitudinal streak of hypopigmentation
prominence of the intermaxillary bone
facial erythema
preaxial polydactyly of hands
accelerated bone age after puberty
generalized periodontal disease
lower-body predominance
tracheobronchial leiomyomatosis
hypoplasia of the cerebellar vermis
partial absence of toe
large facies
abnormality of mucopolysaccharide metabolism
pyrexia
abnormal number of alpha granules
hyperopic astigmatism
pes equinus
undetectable erg
short-limb dwarfism identifiable neonatally
abnormality of the reproductive system
shortened middle finger bones
ankyloglossia
increased axial globe length
bilateral vestibular schwannoma
geniospasm
growth hormone excess
enlargement of the vaginal lips
supplemental dentition
abnormality of the abdominal musculature
2-4 finger syndactyly
sudanophilic leukodystrophy
cervical shortening
calcified choroid plexus
rib hypoplasia
abnormality of the end part of the innermost thighbone
restrictive heart failure
malignant synovioma
irregular innermost shankbone end part
abnormality of the epiphyses of the middle phalanges of the hand
increased subcutaneous truncal adipose tissue
polyotia
sunken cheeks
uneven increase in bone density in toe bone
partial duplication of the distal phalanx of the hallux
cataplexy
juvenile myelomonocytic leukemia
spasmodic torticollis
rosette-forming glioneuronal neoplasm
vestibular schwannoma
hypoplastic/small proximal phalanx of the 4th toe
speckled calcifications in end part of ring finger bone
partial or complete syndactyly 2nd-3rd toes
coarse hair texture
conical maxillary incisor
cerebellar abnormality
thick nasal alae
cupped ears
urethral stenosis
perineal hypospadias
abnormality of threonine metabolism
deformity of facial skeleton
akinetic mutism
recurrent meningococcal disease
megacystis
biliary cirrhosis
scaling skin
thin vermilion border of lower lip
yellow/white lesions of the retina
premaxillary retrusion
pseudoepiphysis of the proximal phalanx of the 5th finger
reduced nerve conduction velocities
ivory epiphysis of the distal phalanx of the 3rd toe
decreased size of cheekbone
enlarged epiphysis of the proximal phalanx of the 2nd toe
polydactyly of feet
asymmetric pupil sizes
intellectual disability, borderline
increased transaminases
juvenile zonular cataracts
reduced or abolished electroretinogram
difficulty getting a full erection
paroxysmal bursts of laughter
familial primary hyperaldosteronism type 1
absent/small middle ear
familial primary hyperaldosteronism type 2
abnormality of calcium homeostasis
abnormality of the hipbone socket
aplasia/hypoplasia involving the skeletal musculature
lens coloboma
abnormal number of teeth
irregular end part of the middle bone of the pinky toe
respiratory paralysis
decrease in hmw vwf multimers
patchy sclerosis of the proximal phalanx of the 4th finger
decreased skull ossification
macrodontia of permanent maxillary central incisor
excessive purine production
tibial bowing
paranasal sinus neoplasm
ivory epiphyses of the middle phalanges of the hand
abnormality involving the epiphyses of the upper limbs
vertical deficiency of chin
flat nasal alar cartilage
subcutaneous nodules
congenital knee dislocation
tall lumbar vertebral bodies
thymic hormone decreased
horizontal sacrum
capillary hemangiomas
decreased height of lower lip vermilion
high frequency of chromosome breaks in lymphocytes
arthrogryposis-like hand anomaly
split spine
transient ischemic attacks
stress/infection-induced lactic acidosis
oesophagitis
aplasia/hypoplasia of the middle phalanx of the 5th toe
absent/small 5th long bone of foot
increased adipose tissue around the neck
slow progression
bridged sella turcica
hypothalamic hypometabolism in fdg pet
abnormality of end part of thumb long bone
flared outermost metaphysis of shankbone
bracket proximal epiphysis of the ring finger
atrophic superior cerebellar peduncle
paroxysmal drowsiness
recurrent infections of the middle ear
presenile cataract
severe myopia
dyspareunia
1-3 toe syndactyly
eclabium
episodic quadriplegia
spreading of the fingers
displacement of the 2nd toe
fluid accumulation in upper limbs
uni- and bilateral multifocal epileptiform discharges
almond-shaped opening between the eyelids
large eyes
extra oral frenulum
renal cortical adenoma
symmetric mesomelic limb shortness
hyperkeratosis pilaris
elevated gamma-glutamyltransferase activity
elevated hepatic iron concentration
bacteriuria
agammaglobulinaemia
triangular innermost thumb bone
curved pinky toe bones
skin dimples
increased ossification of facial skeleton
partial humoral immunodeficiency
abnormality of muscle fibers
lethal short-limbed dwarfism
thin lower lip
curved olecranon
synechiae of the mouth
lung abscess
small 3rd metacarpals
pericardial effusions
simultanapraxia
reduced lymphocyte surface expression of cd43
rhinitis
intellectual disability, severe
crooked nasal septum
fused outermost bones of hand
elevated serum igf1
posterior fossa cyst
white matter alterations
partial/complete duplication of phalanges of the 5th finger
acute blood cancer
delayed ossification of carpal bones
peripheral opacification of the cornea
missing some milk teeth
short metacarpal
enlarged end part of the innermost bone of pinkie finger
cutis aplasia
abnormality of pharynx musculature
severely reduced ejection fraction
abnormal pineal melatonin secretion
underdevelopment of upper limb muscles
hypoplastic antitragus
renal phosphate wasting
short stature, moderate
congenital horner syndrome
epiphora
cervical segmentation defect
high lymphocyte count
progressive renal failure
anteverted nose
high blood bilirubin levels
abnormality of the globus pallidus
columella, low hanging
obsolete radially deviated terminal index finger phalanx
reduced factor ix activity
absence of eyeballs
decreased length of tooth roots
green tooth shade
brachycephaly
absent end part of the 1st long bone of hand
increased bone density in the innermost bone of the pinky toe
abnormality of the hematopoietic system
hamartomatous polyps
club-shaped distal femur
angioectasias of the mouth
humeral hypoplasia
abnormal peristalsis
developmental venous anomaly
butterfly rash
deviation of the 5th toe
symphalangism affecting the proximal phalanx of the 5th finger
decreased cortisol production
thin cornea
giant melanosomes in melanocytes
bridged palmar crease
sclerosis of spinal bone
bilateral progressive sensorineural hearing loss
sertoli cell neoplasm
abnormality of the paranasal sinuses
hypoplasia of the proximal phalanges of the hand
failure of development of nasal septum
vagal nerve tumors
persistent foramina of the parietal bones
increased bone density of end part of the innermost bone of the 4th toe
abnormality of macular pigmentation
multicentric femoral head ossification
horizontal excess of face
hip arthralgia
generalized seborrheic eczema
midline defect of the nose
primary pulmonary dysgenesis, unilateral
overlapping toe
impaired proprioception
decreased vibratory sense in the lower limbs
genetic anticipation with paternal anticipation bias
normal-pressure hydrocephalus
naevus
progressive paralysis or weakness of muscles of eye movement
isosexual precocious puberty
malformation of the palpebral fissures
abnormality of the axial skeleton
hypolipidemia
loss of deep tendon reflexes
abnormality of mucosa of mouth
solitary midline maxillary central incisor
plantar telangiectasia
horizontal jerk nystagmus
retinal degeneration, progressive
bleeding below the skin
lacrimal duct atresia
bracket epiphysis of the proximal phalanx of the thumb
foot, talipes equinovarus
abnormality of carnitine metabolism
prominent clitoris
aniridia
bowed long bone in upper arm
sloping radial epiphyses
eeg with temporal sharp slow waves
resistance to activated protein c
deformity of the nose
aplasia of the pyramidal tract
small epiphyses of the 4th finger
blood platelet disease
short long bone
notched cleft of the upper lip
deviation of the maxilla
underdeveloped 2nd-5th middle toe bones
obsolete renal glomerular fibrosis
aplasia/hypoplasia of the intermaxillary bone
scalp defect
urethral sphincter sclerosis
osteolysis of patellae
thumb brachydactyly
failure of development of deciduous mandibular central incisor
multiple congenital contractures
absent/small innermost little toe bone
full upper lip vermilion
hyperchloremic acidosis
gi tract tumor
sacroiliitis
aplasia of the phalanges of the 2nd toe
primum atrioventricular canal defect
ash-leaf spot
partial double eyebrow
posterior rib gap
hordeolum
aplasia of the 3rd metacarpal
feathered retinal heme
abnormality of central motor conduction
multiple lentigines
aplasia/hypoplasia of the pubic bone
chronic intestinal candidiasis
malignant hyperthermia
stippling of the epiphysis of the proximal phalanx of the 4th finger
brain very small
abnormal urine smell
abnormality of the pulmonary artery
ginger hair color
hypoplastic inferior crus of antihelix
right-sided heart failure
cardiac rhythm disturbances
increased bone density in the innermost bone of the ring finger
pinealoma
peripheral nerve disease
trichoepithelioma
neurofibromata
increased protein in csf
atretic external auditory canals
upper limb brachymesomelia
perthes-like femoral head changes
downward-slanting palpebral fissures
motor impersistence
limited joint motion
abnormality of inferior oblique extraocular muscle
recurrent neisseria infections
gonosomal inheritance
speckled calcifications in the end part of the innermost bone of the 4th toe
abnormal serum interleukin level
poor fingernail formation
aortic atherosclerosis
decreased number of large and small myelinated fibers
long philtrum
increased bone density in 2nd toe bone
premature pubarche
underdeveloped mandibular rami
muscle cramps on exertion
ivory epiphysis of the proximal phalanx of the 2nd finger
retrobulbar optic neuritis
decreased height of philtrum
impaired ability to form peer relationships
orthokeratotic hyperkeratosis
mixed polyneuropathy
ovoid vertebral bodies
pseudoepiphysis of the middle phalanx of the 5th toe
unilateral cryptorchidism
irregular end part of the middle long bone of the index finger
hyperplasia of the primary palate bone
increased urine alpha-ketoglutarate concentration
osteolytic defects of the outermost bone of the thumb
widened metacarpal shaft
increased resting energy expenditure
neck muscle hypertrophy
vestibular function defect
vitreous haemorrhage
partial/complete duplication of the proximal phalanges of the toes
partial duplication of the phalanges of the 4th finger
dermatological tumors
stippled calcification in carpal bones
pulmonary stenosis
obtuse angle of mandible
excess neck skin
progressive high-frequency hearing loss
asymmetry of cranium
maxillary retrusion
episodic hemolytic anemia
absent/small toe bones
hiccups
false pulp stones
red cell acanthocytosis
prolonged miniature endplate potentials
cervical c3/c4 vertebral fusion
hypoplastic scrotum
chronic irritative conjunctivitis
decreased platelet glycoprotein ib-ix-v
short proximal phalanx of the second finger
pseudoepiphysis of the proximal phalanx of the 2nd finger
broad middle bone of the index finger
disorder of the face
duplication of proximal phalanx of toe
arterial abnormalities
decreased patellar reflex
square humeral metaphysis
mouth ulcer
dolichostenomelia
undivided thalami
abnormality of the 4th long bone of foot
peripapillary exudation
recurrent cystitis
delayed teeth eruption
bullet-shaped proximal phalanges of toe
hyperglycinaemia
lack of eyebrow
mid-peripheral
decreased number of peripheral myelinated nerve fibers
simple partial occipital seizures
abnormality of thighbone end part
palpebronasal fold
breech presentation
wide philtrum
ankle contracture
abnormality of the pons
abnormal neck or head of thigh bone
hyalitis
abdominal pain
fatty liver
curved toe phalanx
abnormality of the hallux
aplasia/hypoplasia of the pancreas
copd
dysmetria
emg: slow motor conduction
abnormal neutrophil cell number
valvular abnormality
abnormality of the epiphysis of the middle phalanx of the 2nd finger
hypoplasia of the tongue
hepatic steatosis, diffuse
partial duplication of the proximal phalanx of the fifth toe
tumors of the central nervous system
abnormality of the pupil
abnormality of the nasal ala
incisional hernia
absence of stensen duct
abnormal platelet count
bulbous internal auditory canal
ribbonlike corneal degeneration
ectopic pancreatic tissue
abnormality of the middle bone of pinky finger
cryptorchidism, unilateral
large sella turcica
abnormal eye morphology
vertebral wedging
absent/small 4th toe
broad bone of big toe
reduced urinary osmolality
dimelia
unequal size of red blood cells
abnormal fat tissue distribution below the skin
hamartoma
narrow lumbar spinal canal
small sacrosciatic notches
behavioral changes
irregular end part of the innermost hand bones
sloping radial metaphysis
hypotrophy of all teeth
abnormality of the neurohypophysis
localized neuroblastoma
extra fontanelles
coronary artery fistula
abnormality of acid-base homeostasis
renal ptosis
pseudoepiphyses of middle finger phalanges
complete duplication of the proximal phalanx of the 3rd finger
lactate dehydrogenase b deficiency
curved 4th toe phalanx
cerebellar vermis aplasia/hypoplasia
underdeveloped upper arm muscles
atresia of the large intestine
flank pain
delayed maturation of the end part of the elbow bone
cervical oestoarthritis
slender ulna
haemolytic anaemia
ovotestis
symphalangism of the proximal phalanx of the 5th toe with the 5th metatarsal
elevated sweat chloride
low hanging columella
factor vii deficiency
cerebral hypoplasia
twitching of the tongue
wide epiphyses of the upper limbs
pulmonary fibrosis
protein in urine
rhomboid or triangular shaped innermost bone of little finger
synostosis involving bones of the toes
bilateral vertebral artery hypoplasia
splayed metaphyses
variable expressivity
bilateral coronal craniosynostosis
broad femoral metaphyses
proximal muscle weakness in upper limbs
big midface
partial duplication of the distal phalanx of the 5th toe
short sternum
duplication of the outermost bone of the thumb
glossal hypertrophy
renal dysplasia
nephritis
short distal phalanx of the fourth toe
fusion of midphalangeal joints
absent/hypoplastic nails
enlarged end part of the middle bone of the middle finger
symphalangism of the distal and middle phalanges of the 5th finger
moderate expressive language delay
decrease in jaw movement
hbs hemoglobin
rhomboid or triangular shaped 5th finger distal phalanx
generalized clonic seizures
calcification of ribs
abnormality of the cranial sutures
proportionate tall stature
fat accumulation in muscle fibers
neurocytoma
thickened calvarium
bracket shaped end part of the outermost bone of the pinky toe
open mouth appearance
thalamic oedema
mosaic central corneal dystrophy
hypoplasia of the upper arm musculature
missing mandibular premolar
rudimentary to absent tibiae
macrocephaly, progressive
abnormalities of the fingers
calcific stippling
hypoplastic right heart
absent tarsals
complete duplication of the middle phalanx of the 5th finger
ovarian cyst
short 4th finger
absent end part of the middle bone of the pinkie finger
acute infectious pneumonia
hemosiderinuria
ventricular septal defect, perimembranous
metaphyseal chondromatosis of radius
deficiency or absence of cytochrome b
decreased mitochondrial number
curvature of pinky finger
abnormality of the long bone of hand
oval pupil
shallow anterior chamber
periodic paralysis
acanthosis
colonic diverticula
abnormality of the antihelix
corneal degeneration
broad nostril
lactic acidosis
hypoplastic first rib
agenesis of pulmonary vessels
early eruption of teeth
abnormally shaped carpal bones
tumor of the nervous system
flat supraorbital ridge
dandy-walker anomaly
stippling of the epiphysis of the distal phalanx of the 2nd toe
eeg with changes in voltage
postaxial hexadactyly
inflammatory skin disease
olivary degeneration
vesicoureteral reflux
hypotrophic tragus
small deciduous teeth
obsolete accessory middle-finger phalanges
large nasal tip
pulverulent nuclear cataract
thoracic pain
abnormality of intracranial pressure
wide nasal bridge
episodic abdominal pain
telangiectasia of the ear
obsolete neoplasia of the nose
fatty deposits in skin around the eyes
midline cleft of nose
muscle haemorrhage
irregular end part of long bone in upper arm
ivory epiphysis of the proximal phalanx of the 3rd finger
fibrous syngnathia
tetrology of fallot
abnormality of the distal radial epiphysis
sleep terrors
hypothalamic hamartoma
hypocupremia
fetal distress
nail pitting
recurrent hiccup
aphalangy of hands and feet
fragmentation of the epiphyses of the 3rd finger
abnormal plasma renin
decreased projection of anterior nasal spine
abnormality of the epiphyses of the distal phalanx of finger
lower limb atrophy
supranuclear downgaze palsy
high pitched voice
ear anomaly
patchy variation in bone mineral density
j wave
persistent primary dentition
aplasia of the distal phalanx of the 5th finger
progressive reticulate hyperpigmentation
descending thoracic aortic aneurysm
failure of development of between one and six teeth
absent/underdeveloped middle finger bone
partial/complete duplication of the distal phalanx of the 4th toe
abnormal pigmentation of the oral mucosa/gingivae
bifid nail
gastrointestinal tract neoplasia
enlarged epiphyses of the 5th finger
myotonia of the face
neuroendocrine neoplasm
fragmentation of end part of the outermost bone of the index finger
agenesis of eyebrows
pseudoarthrosis of clavicle
pyothorax
sclerosis of the proximal phalanx of the 2nd toe
periorbital wrinkles
premature loss of secondary teeth
increased protein increased in vitamin k's absence-ii
hypergammaglobulinaemia
atrichia of lower eyelashes
reversible renal failure
advanced pneumatization of cranial sinuses
abnormal eye pressure
underdevelopment of nasal tip
flattening of alveolar ridges
abnormality of inside lining of cheek
curvature of little finger
abnormality of the lacrimal bone
unilateral coronal suture synostosis
pierre-robin malformation
partial thickness cleft hard palate
concave dorsum of nose
foot crease
wide based gait
triangular shaped proximal phalanges of the toes
triangular end part of the outermost bone of ring finger
receding chin
chronic myeloid leukemia
beaded ribs
tracheobronchomalacia
absent outermost bone of the little toe
overfriendliness
hypertension due to renal artery hyperplasia
increased serum interferon-gamma level
fused innermost bone of pinky finger
ocular movement abnormalities
increased width of nasal tip
absent lacrimal gland puncta
multiple pouches in bladder wall
duplication of the proximal phalanx of the 3rd toe
sclerotic humeral metaphysis
recurrent corneal ulceration
aplasia/hypoplasia of the distal phalanx of the 5th toe
generalized muscular appearance from birth
gelastic seizures
marginal cord insertion
subperiosteal erosions due to secondary hyperparathyroidism
reduced systolic function
laryngotracheoesophageal cleft i
folate-unresponsive megaloblastic anemia
bilateral basal ganglia lesions
preretinal haemorrhage
soft, doughy skin
hypersegmentation of proximal phalanx of third finger
abnormal urine magnesium concentration
fatigable weakness of skeletal muscles
anomaly of the limb diaphyses
chloroquine retinopathy
dystrophic tooth enamel
proboscis
otitis media
abnormality of the mesentery
aneurysm of an abdominal artery
fifth metacarpal notched on ulnar side
choreic movements
increased bone density in the outermost bone of the 4th toe
hypoplastic cochlea
abnormality of circulating glucocorticoid level
absent uterus
cerulean cataract
increased proportion of hla dr+ and cd57+ t cells
malformation of lower premolar
small intestinal dysmotility
petrified ear
hypoadrenalism
grip myotonia
increased susceptibility to fractures
complete duplication of the innermost bone of the 3rd finger
curved 1st metatarsal
erythrodontia
stippling of the epiphysis of the proximal phalanx of the 5th finger
fused outermost and middle bones of middle finger
flared outermost metaphysis of shinbone
abnormality of the upper urinary tract
pulmonary av malformation
atrophy of the corpus callosum
transient neonatal diabetes mellitus
pancreatic tumor
high nasal bridge
polyphagia
wide neck
vocal cord paresis in severe cases
eruption, delayed
macrosomia, neonatal
short stepped shuffling gait
hypoplastic distal phalanges of feet
wedged vertebrae
maternal hyperglycemia
thoracic kyphosis
hooked clavicle
y-linked inheritance
congenital megaureter
abnormality of the sella turcica
absent/small triceps
micromaxilla
ungual fibroma
recurrent bacterial skin infections
collapsed lung
finger joint hyperextensibility
supernumerary teeth
rectus femoris muscle atrophy
unaided visual acuity 1.3 logmar
amyotrophy of ankle musculature
progressive cervical vertebral spine fusion
increased volume of lower lip
high blood ornithine levels
narrow dorsum of nose
irregular thighbone end part
absent outermost bone of the 2nd toe
epiphyseal abnormality of terminal index finger phalanx
honeycomb lung
dental malformations
curve bones of big toe
central hypoventilation
eyelid edema
increased bone density of end part of the little finger
enlargement of facial bones
single palmar crease
retruded nasal ridge
clinical modifier
reduced muscle collagen vi
midnasal atresia
2-3 toe soft tissue syndactyly
absent/underdeveloped middle finger
punctate corneal opacities
heart murmur
aldehyde oxidase deficiency
generalized joint laxity
enlarged epiphysis of the proximal phalanx of the 2nd finger
malformation of the bridge of the nose
easily breakable hair
onychomadesis
reduced brain n-acetyl aspartate level by mrs
eruptive xanthomas
middle ear hypoplasia/aplasia
reduced methionine synthase activity
ichthyosis lammellaris
increased width of columella
big cranium present at birth
exostosis of the external auditory canal
lytic defects of the forearm bones
tapered distal phalanges of finger
osteosarcoma
prominent septum of nose
absent/small optic tract
cervical spine hypermobility
skin degeneration
narrow palpebral fissures
systemic lupus erythematosus
absent inferior half of the cerebellar vermis
abnormality of fatty tissue below the skin
partial duplication of the outermost bone of the pinkie toe
short terminal phalanx of middle finger
acromelia
hypoplastic facial bones
diffuse skin atrophy
bullet-shaped distal phalanges of the toes
triangular epiphysis of the middle phalanx of the 3rd toe
large platelets
streaks of hyperkeratosis along each finger onto the palm
vaginal malformation
deformity of the supraorbital margins
anomaly of the gallbladder
triangular shaped innermost bone of big toe
peg-shaped incisors
small facies
abnormality of the endocardium
hyperextensible fingers
congenital septal defects
wide metaphyses
brittle scalp hair
difficulties in coordination
ectopic ossification
scaphocephaly
flattened rete ridges
convex bridge of nose
abnormality of skeletal physiology
small end part of the middle bone of the pinkie finger
conspicuously happy disposition
bracket shaped end part of the innermost bone of the little toe
dwarfism
malignant eosinophil proliferation
enlarged end part of the ring finger bones
underdeveloped kidney on one side
missing some primary teeth
recurrent intrapulmonary hemorrhage
protruding eyes
reduced b cell function
small end part of pinky finger bone
hypoplasia involving bones of the extremities
enlarged epiphysis of the 1st metacarpal
microscopic nephrocalcinosis
triggered by alcohol ingestion
radially deviated fingers
synostosis of metacarpals/metatarsals
cleft anterior maxilla
bracket epiphysis of the middle phalanx of the 5th toe
abnormality of the midface
digitalized thumb
attention deficit-hyperactivity disorder
central retinal exudate
arteriovenous malformation
premature ventricular contractions
jaw claudication
abnormality of the roof of the mouth
hyperbilirubinemia
symphalangism of the distal and middle phalanges of the 4th finger
heart failure
helix, posterior pit
ivory epiphyses of the 2nd finger
triangular shaped middle bone of 2nd toe
normocytic anemia
pneumothorax
underdevelopment of milk teeth
neoplasm of the posterior pituitary
cone shaped maxillary incisor
gallbladder atresia
shortened long bones of hand
absent nail of hallux
abnormality of the clavicle
sternal ossification center abnormalities
maternal virilization in pregnancy
suppressed plasma renin activity
poor nail formation
soft skullcap
autoimmune neutropenia
oncocytic cardiomyopathy
timo cyst
complete duplication of the proximal phalanx of the 4th finger
3rd toe clinodactyly
bowing of thighbone at birth, straightening with time
peripheral vascular disease
constricted, bell-shaped thorax
absent/small nipples
cutaneous leiomyoma
mechanical ileus
contracture of the distal interphalangeal joint of the 4th toe
idiopathic cutaneous hyperchromia at the orbital region
increased urinary hypoxanthine
femoral aplasia
cleft nasal tip
anomalous origin of right coronary artery from the pulmonary artery
high-grade hypermetropia
thumb polydactyly
morbus osgood-schlatter
short femur
hypotrophy of the cheekbone
ventouse delivery
decreased height of condylar process of mandible
aplasia/hypoplasia of the middle phalanx of the 2nd finger
gait imbalance
metacarpophalangeal joint hyperextensibility
abnormality of the teeth
cupped ear
facial telangiectasia in butterfly midface distribution
striae
shortened 3rd long bone of hand
clinical heterogeneity
facial fat wasting
posteriorly angulated ears
chronic fatigue
ectopic thyroid
increased serum long-chain fatty acids
bracket epiphysis of the proximal phalanx of the hallux
absent muscle fiber calpain-3
abnormality of the pancreas
abnormality of the end part of the 2nd long bone of hand
ulnar hypoplasia/aplasia
flared wide portion of long bone of upper arm
missing lower front baby tooth
neurohypophysis dysplasia
transverse hyperplasia of face
deficiency of speech development
idiopathic thrombocytopenia
agenesis of permanent maxillary lateral incisor
decreased size of primary tooth
gastrostomy tube feeding in infancy
missing permanent upper lateral incisor
flared metaphysis
hypoplasia of the gallbladder
wide radius
trophic limb changes
type 1 transferrin isoform profile
nonketotic hyperglycinemia
absent metacarpal epiphyses
absent/underdeveloped abdominal wall muscles
teeth with type iii dentinogenesis imperfecta
reduced level of platelet glycoprotein iib/iiia complex
dibasicaminoaciduria
primary hypercorticolism
dilated ventricles
cellular immunodeficiency
partial myoclonic seizures
bilateral renal hypoplasia
partial duplication of the proximal phalanx of the hallux
deformity of the cheekbone
poorly ossified skull bones
hirschsprung disease
intrahepatic duct deficiency
downslanting palpebral fissures
conjunctival hamartoma
small end part of the 3rd toe bone
fused outermost and middle bones of ring finger
pulmonary atresia
reduced alpha-2-antiplasmin activity
gingivorrhagia
narrow nares
hemiballismus
abnormal helices
gastrointestinal infections
infantile spasms
celiac sprue
triggered by overeating
short pelvis bones
abnormality of alveolar processes of jaw
gonadoblastoma
blood in urine
anterior radial head dislocation
aplasia cutis congenita over parietal area
midfrontal capillary hemangioma
tumor of the peripheral nervous system
boxer's nose deformity
left anterior hemiblock
congenital bullous ichthyosiform erythroderma
arrhythmias
bullet-shaped proximal toe phalanx
nasal inflammation
recurrent sore throat
speckled calcifications in long toe bones
short limbs
abnormal head movements
dolichocephaly
type ii diabetes mellitus
psychotic episodes
incorrect relation between upper and lower dental arches
nikolsky's sign
renovascular hypertension
retrusion of lower jaw
duplication of the innermost bone of the little toe
triangular end part of the toe bones
atypical elliptocytosis
narcolepsy
irregular epiphyses of the 5th finger
synostosis of the proximal phalanx of the hallux with the 1st metatarsal
severe short stature
excessive bleeding after a venipuncture
pineocytoma
patchy sclerosis of distal toe phalanx
syphilitic permanent first molar
thyroid follicular adenoma
dermatoglyphic abnormalities
webbed 2nd-4th toes
acquired abnormal hair pattern
'rimmed' vacuoles on biopsy
deformity of tip of nose
crooked maxilla
membranous nephropathy
abnormal csf neopterin level
abnormality of the crus of the ear
ekg abnormalities
abnormality of the vasculature of the neck
eczema around the mouth
triangular shaped middle pinky finger bone
enlarged hinge joints
hypoperistalsis
abnormality of the end part of the innermost bone of the little toe
hypoplastic nasal wings
abnormality of lingual tonsil
abnormality of vitamin b metabolism
absent/small 4th long bone of hand
abnormality of the ilium
subcoronal hypospadias
small frontal sinuses
low pulse pressure
tubular metacarpal bones
symphalangism affecting the phalanges of the 4th toe
absent/small ear lobes
hypoplastic testes
chronic consumption coagulopathy
prolonged neonatal jaundice
absent/underdeveloped upper arm muscles
post-transfusion purpura
sebaceous adenoma
agenesis of condylar process of mandible
appendicular ataxia
copper accumulation in liver
absent/underdeveloped cervical spine
abnormality of peripheral nerve conduction
absent tear secretion
hypomyelination of the brain
lip pit
lumbar hypertrichosis
neck pterygia
short pinkie finger
piebaldism
triggered by stress
thumb deformity
preauricular earpits
abnormality of citric acid cycle
abnormality of base of nose
ridged nail
small face
moody
triangular epiphysis of the middle phalanx of the 3rd finger
posterior rib cupping
minor feet anomalies
abnormality of the epiphysis of the proximal phalanx of the 5th finger
absent corpus callosum
depressive disorder
partial/complete duplication of the 1st long bone of hand
obtuse basal angle of skull base
supraventricular tachycardia
hemobilia
central cleft palate
prominent occiput
absent nares
persistent hyperplastic primary vitreous
double jointed thumb
fluorosis of tooth enamel
absent/underdeveloped long bone in upper arm
pelvic girdle muscle wasting
absent pituitary gland
effort-induced polymorphic ventricular tachycardias
congenital ichthyosis
overgrowth of the facial bones
absent/underdeveloped lacrimal glands
speckled calcifications in of the end part of the middle bone of the 2nd toe
ovoid vertebrae
abnormality of circulating catecholamine level
triangular end part of the middle bone of the pinky finger
apple cheeks
sclerosis of the proximal phalanx of the 5th finger
nasolacrimal duct atresia
anonychia of toenails
abnormal kinetic perimetry test
acholic stools
decreased size of neck muscle
mitral valve calcification
obsolete accessory middle phalanx of middle finger
absent/small middle finger bone
small bone of forehead
plethora
abnormality of the zygomatic bone
taurodont
cerebellar malformation
chin dimples
bullet-shaped outermost bone of the 2nd toe
simian crease
aplastic/hypoplastic metacarpals
partial duplication of the middle phalanx of the 3rd toe
small end part of innermost shinbone
increased bone density of end part of the toes
low blood cell count
abnormality of citrulline metabolism
fused finger bones
partial or complete agenesis of the corpus callosum
accelerated linear growth
dot-and-blot retinal haemorrhage
mitral valve prolapse
abnormal formation of myelin sheaths
partial duplication of the distal phalanx of the 3rd toe
hyperostosis of cranial bones
bowed legs
megarectum
abnormal biliary tract physiology
retinal tear
nodular changes affecting the eyelids
decreased platelet glycoprotein vi
antepartum haemorrhage
uneven increase in bone density in the outermost bone of big toe
progressive retinal degeneration
torticollis
partial/complete duplication of pinky finger bone
absent muscles since birth
nonprogressive encephalopathy
defective dehydrogenation of isovaleryl coa and butyryl coa
tetralogy of fallot with absent pulmonary valve syndrome
hypoplastic kidney
small end part of the innermost bone of pinky finger
failure of development of some deciduous teeth
abnormality of the end part of middle pinkie finger bone
aplasia of the proximal phalanges of the toes
wolff-parkinson-white syndrome
scheuermann-like vertebral changes
symmetric lesions of the basal ganglia
late closure of large anterior fontanel
severe generalized osteoporosis
rigidity
anomalous tracheal cartilage
corneal keratic precipitates
abnormality of the sphenoid sinus
short stature, disproportionate mesomelic
deficiency of glabella
neonatal sepsis
gingival inflammation
irregular end part of the middle bone of the middle finger
cranial nerve involvement
stiff neck
increased bone density of end part of the pinky toe bone
tonsillar hypertrophy
hypochromic, microcytic anemia
increased bone density in central part of long bone of upper limbs
bracket shaped end part of the outermost bone of the little toe
noncommunicating hydrocephalus
ivory epiphysis of the 1st metacarpal
osteolytic defects of the outermost bone of the 4th toe
obsolete pulsatile tinnitus (tympanic paraganglioma)
posteriorly rotated auricles
diffuse glomerular basement membrane lamellation
curved middle phalanx of the 5th toe
elevated blood creatine phosphokinase
increased bone density in the middle bone of the little finger
hypoplastic posterior communicating artery
webbed 3rd-4th toes
bullet-shaped innermost bone of pinkie toe
hamartoma of the eye
abnormal intraocular pressure
peroneal atrophy
limited extraocular movements
irregular epiphysis of the distal phalanx of the 5th finger
transudative pleural effusion
broad humeral diaphysis
abnormality of lens position
cortical thinning of hand bones
subretinal heme
double outlet right ventricle with doubly committed ventricular septal defect and pulmonary stenosis
right atrial isomerism
absent urine output
flat nose
foveoschisis
sideroblastic anemia
caliceal diverticulum
absent end part of the outermost bone of the ring finger
cleft soft palate
thin upper lip
ocular pain
retinal arterial tortuosity
localized clonic seizure
dense bone of skull base
left atrial isomerism
type ii transferrin isoform profile
fused bit toe bones
decreased subcutaneous fat
neonatal hypoproteinemia
increased bone density in the outermost pinky finger bone
broad based gait
split hand
loss of bladder control
hepatic abscesses due to immunodeficiency
symphalangism of the 2nd finger
junctional ectopic tachycardia
enlarged epiphysis of the distal phalanx of the 4th toe
reduced upper-lower segment ratio
broad distal phalanx of the 2nd toe
abnormality of dermal melanosomes
pancreas abscess
myasthenia
malformed teeth
dohle-like leukocyte inclusion bodies
trichilemmoma
aspiration pneumonia
obsolete lung segmentation defects
multiple renal cysts
narrow thorax
solitary congenital hypertrophy of retinal pigment epithelium
thick vermilion border
short metatarsals
small epiphysis of the distal phalanx of the 4th toe
pseudobulbar symptoms
thick internal surface of the cranial bones
pituitary thyrotropic cell adenoma
long eyelashes
severe cupped ear, type iii
hemolytic anemia following ingestion of fava beans
extra skin on fingers
missing scalp hair
intraalveolar nodular calcifications
curved innermost toe bones
impulsive
defective b cell differentiation
recurrent deep vein thrombosis
bone marrow hypoplasia
hypoplastic hands
absent/underdeveloped shankbone
decreased size of nose
fish mouth
skin groove behind the ear
fused fourth and fifth metacarpals
brainstem hypoplasia
tongue twitching
bilateral convulsive seizures
growth retardation as children
obsolete flat midface
upper limb muscle hypoplasia
abnormality of genital physiology
situs inversus viscerum
bleeding gums
absent speech
hypopigmented skin
molybdenum cofactor deficiency
abnormality of the proximal phalanx of the 5th toe
abnormality of reproductive system physiology
single median maxillary incisor
partial duplication of the phalanges of the 5th finger
slender toe
ivory epiphysis of the middle phalanx of the 4th toe
elevated plasma pyrophosphate
lipid accumulation in hepatocytes
abnormality of the diaphyses
myeloproliferative disorder
localized periodontitis
fusion of second metacarpal-trapezoid
hypoplasia of the medullary pyramids
protrusion of upper teeth in front of lower teeth
microcephaly
dark circles around the eyes
abnormality of the femoral neck
hypoplastic nostrils
early loss of baby teeth
abnormality of aromatic amino acid family metabolism
cone-rod retinal dystrophy
congenital hip anomaly
absence of cd4+cd25+ tregs
horizontal menton crease
discolored, acholic stools
status cribrosum
complete duplication of the innermost bone of big toe
short palpebral fissures
congenital generalized hypertrichosis
peripheral retinal cone degeneration
increased serum creatine phosphokinase
irritability
steep corneal curvature
synostosis involving the fibula
vacuum-assisted vaginal delivery
congruous heteronymous hemianopia
short middle phalanx of toe
cone-shaped epiphysis of the distal phalanx of the hallux
anomaly of the external nose
partial duplication of the proximal phalanx of the second toe
indentation in back of outer ear
palatal tori
abnormality of central sensory function
high urine tryptophan levels
absent end part of the 2nd toe bone
myoclonic jerks
malformation of the malar bones
non-ambulatory
reduced amplitude of dark-adapted bright flash electroretinogram b-wave
large fontanelle
acroosteolysis of distal phalanges of feet
weak or absent deep tendon reflexes
best corrected visual acuity 0.4 logmar
laterally sparse eyebrows
absent/underdeveloped innermost toe bones
ring scotoma
deficient maturation of hand bones
delayed permanent dentition
clenched hands
abnormality of renal physiology
anophthalmia, clinical
hypoplasia of cranial nerve viii
absent cutis congenita of vertex
proximal aortic coarctation
pathologic hair loss from scalp
accelerated plaque build-up in arteries
delusions
laterally built up nose
abnormal skin structure
repeated speech
high urine carnosine levels
large oral aperture
abnormality of the vertebral column
dysplasia of tooth enamel
increased thyroid-stimulating hormone
retruded tip of nose
anal fistula
sclerosis of the proximal phalanx of the 3rd toe
abnormality of corneal size
hypoplastic to absent femora
localized hirsutism
absent/small middle 3rd toe bone
small cranium
abnormality of mastoid process of temporal bone
neurofibrosarcoma
corneal abnormalities
postaxial foot polydactyly
partial/complete duplication of the outermost bone of the ring finger
curved middle bone of little toe
pyloric stenosis
small lung
choreoathetoid movements
lax joints
antiphospholipid antibodies
elongated uvula
prominent midpalatal ridge
increased thickness of calvarium
decreased cervical length
increased glucagon level
tall stature
deformity of the nasal bridge
chorioretinal coloboma
left unicoronal synostosis
type a brachydactyly
decreased sensitivity to hypoxemia
bundle-branch block
vertebral hypoplasia
peripheral motor neuropathy
increased cortisol production
hypoplastic fingernail
osteolytic defects of the middle phalanx of the 5th finger
extrapyramidal tract signs
abnormality of the nail
abnormal erg
underdeveloped nasolabial fold
paroxysmal nocturnal hemoglobinuria
bowel urgency
thickened cranium
hyperkeratosis over edematous areas
dysplasia of the femoral head
hyperalphalipoproteinemia
congenital hip dysplasia
renal insufficiency, progressive
acute biphenotypic leukemia
impaired tendon reflexes
defect of scalp
frayed humeral metaphyses
large central visual field defect
delayed loss of primary teeth
retrognathia of upper jaw
abnormality of vasculature of head
agenesis of secondary molar
decreased width of nasal ridge
absent/underdeveloped sacrum
premature ejaculation
localized osteoporosis
obsolete chorioretinopathy
craniosynostosis
generalized amyloid deposition
apudoma
thin bone of forehead
stye of inner eyelid
antiphospholipid antibody positivity
absence of upper jaw bones
deep longitudinal plantar crease
loss of teeth
small epiphyses of the 3rd toe
decrease in mandibular mobility
dry lips
acoustic neuroma
retinal hemangioblastoma
stage 2 chronic kidney disease
sclerosis of the phalanges of the 2nd toe
armpit cyst
late closing fontanelles
triangular shaped outermost bone of the pinkie toe
abnormality of the outermost finger bone
hypoplastic calf muscles
increased mobility of outermost hinge joint
loss of fat tissue below the skin in gluts
hypophosphaturia
hunched back
triangular shaped pinky toe bone
blepharitis
hooked nose
decreased antibody level in blood
absent metatarsal bone
high maternal serum chorionic gonadotropin
early progressive calcific cardiac valvular disease
abnormality of the twelfth cranial nerve
deep palmar crease
protruding nasal bridge
anal mucosal leukoplakia
distortion of facial shape
caput medusae
duplication of the middle phalanx of the 4th toe
thick lower lip vermilion
broad carpal bones
absent 1st long bone of foot
reduced antithrombin antigen
abnormality of the peripheral nervous system
lower eyelid turned out
acetabular spurs
toe curvature
naris, narrow
recurrent cutaneous fungal infections
advanced pneumatization of the mastoid process
postural tremor
orthopnea
hooded lower eyelid
rounded middle bone of finger
distichiasis of eyelid eyelashes
abnormality of the temporomandibular joint
bracket epiphysis of the distal phalanx of the 5th toe
abnormal cerumen color
absent/small cochlea
localized hypoplasia of tooth enamel
rhizomelic limb shortening
decreased sweating due to autonomic dysfunction
paranasal sinus hypoplasia
broad xiphoid process
tapered finger
irregular end part of middle hand bones
adipose tissue loss
ulnar deviation of the 1st finger
highly elevated creatine phosphokinase
focal absence of scalp tissue
decreased serum complement c4a
decreased serum complement c4b
tumours of the breast
irregular epiphysis of the middle phalanx of the 4th finger
sparse axillary hair
hypoplastic distal ulna
deformed ears
single trichilemmoma
cranial sclerosis
gastritis
wide shaft of long bone
multiple retained teeth
absent epiphyses of the 3rd finger
partial duplication of the middle bone of the pinky toe
conotruncal defect
glaucomatous visual field defect
decreasing lumbar vertebrae interpediculate distance
abnormality of cartilage of septum of nose
chronic blood cancer
decreased size of head
abnormal number of dense granules
lymphopenia
abnormal cartilage morphology
respiratory infections, recurrent
rough trabeculation of bone
absent/small big toe
marcus gunn jaw winking synkinesis
delta-shaped epiphyses of the 4th finger
highly variable clinical phenotype
holoprosencephaly
fleshy earlobe
absent/underdeveloped middle bone of little toe
delayed fontanel closure
reduced facial muscle tone
anomaly of lower limb diaphyses
thin ear helix
severe postnatal growth failure
irregular end part of big toe bone
eeg abnormalities
fixed elbow flexion
hyperkeratosis, generalized
wide gaps between primary teeth
small epiphysis of the middle phalanx of the 2nd toe
speckled calcifications in end part of the innnermost bone of the pinky finger
premature epimetaphyseal fusion in fibula
anteriorly placed odontoid process
abnormality of the mineralisation and ossification of bones of the feet
loss of foveal reflex
fused innermost bone of pinkie finger
abnormality of infraorbital artery
cardiac myxoma
dyskinesias
complete duplication of the middle bone of the 4th toe
hyperconvex nail
congenital absence of the pericardium
cervical spinal canal stenosis
excessive sputum secretion
hypertrophy of half of the tongue
abnormally prominent line of schwalbe
extra thumb
straight eyebrows
gonadal calcification
rhabdomyolysis, acute
hypertrophy of the internal surface of the cranial bones
absent/underdeveloped middle bone of the 4th toe
wide innermost wide portion of shinbone bone
absent/underdeveloped index finger bone
primum atrial septal defect
atrichia of eyelashes
abnormal peripheral action potential amplitude
hypersegmentation of neutrophil nuclei
increased urinary xanthine
infantile axial hypotonia
cutaneous osteosis
eeg with generalized slow activity grade 1
eeg with generalized slow activity grade 2
eeg with generalized slow activity grade 3
prominent tragus
malignant genitourinary tract tumor
rounded neck
orange tonsils
partial thickness cleft soft palate
decreased adipose tissue
ureterocele
shortening of all metacarpals
thymus hypoplasia
pseudoepiphysis of the middle phalanx of the 4th finger
curved index finger bones
glutaric aciduria
pectus excavatum or carinatum
nasal cartilage hypoplasia
triangular shaped innermost pinky finger bone
tessier facial cleft number 14
fractured ulna
abnormality of the epiphyses of the 2nd finger
ileal atresia
contracture of the proximal interphalangeal joint of the 5th finger
slow decrease in sharpness of vision
aphthous stomatitis
absent/small kneecap
midphalangeal hypoplasia
impaired ristocetin cofactor assay activity
cortical tubers
camptodactyly of the second toe
focal t2 hyperintense basal ganglia lesion
abnormal metacarpal morphology
hairline point
liver abscess
radial deviation of the 2nd finger
fragmented, irregular end part of bone
abnormality of the falx cerebri
cardiomegaly
increased mean corpuscular volume
adrenocorticotropin receptor defect
increased serum insulin-like growth factor 1
absent/small little toe
slender metacarpals
abnormal gallbladder morphology
bracket epiphysis of the distal phalanx of the 4th finger
round face
butterfly vertebral arch
abnormality of jaw muscles
wide/broad thumb
central nasal groove
deviation of the 3rd finger
cataract, progressive
thyroid hormone receptor defect
focal seizures with impairment of consciousness or awareness
soft tissue syndactyly of toes
abnormality of the choanae
absent nipples
high blood methylmalonic acid levels
abnormality of the radius
reduced brain choline level by mrs
abnormal mitochondrion morphology
decreased serum creatinine
abdominal wall muscle weakness
abnormality of the nasal cavity
stahl ear
prominent lower lip
triangular shaped 1st long bone of hand
uterine synechiae
camptomelia
pulmonary situs ambiguus with bilateral morphologic right lungs
hypoplastic cerebellar vermis
postauricular fibroepithelial polyp
fused long bone of hand with innermost finger bone
abnormality of radial metaphyses
lagopthalmos
compensated hypothyroidism
wide tufts of distal phalanges
ureterovesical stenosis
laryngeal atresia
plasmocytoma
cone-shaped end part of digital bones 2 to 5
aplasia/hypoplasia of the retina
bullet-shaped outermost bone of the index finger
atrophy/degeneration affecting the cerebellum
hypoganglionosis
progressive high frequency hearing loss
left-sided
lytic defects of radial diaphysis
dilated cardiomyopathy
foveal degeneration
insufficient response to short acting pulmonary vasodilator
posterior pituitary hypoplasia
abnormality of the brainstem
corneal hypesthesia
painful subcutaneous lipomas
complete anophthalmia
vertebral artery hypoplasia
cranium bifidum occultum
lung hypoplasia
patellar clonus
absent/small innermost pinky toe bone
facial telangiectatic vessels
type 2 muscle fiber atrophy
webbed 1st-2nd finger
abnormal electromyography finding
blushed cheeks
anterior chamber cleavage defect
absent/small cerebral white matter
decreased diameter of pharynx
abnormality of stem of antihelix
cleft ala nasi
renal bicarbonate wasting
adherent earlobe
supernumerary nipples
increased bone density of end part of the innermost bone of the little toe
azotemia
juvenile cataract
enlarged lysosomal vacuoles in lymphocytes
bacterial endocarditis
reduced muscle fiber calpain-3
round ear
patchy sclerosis of the distal phalanx of the 3rd finger
2-3 toes syndactyly
recurrent pulmonary infections
increased size of mandible
vertebral anomalies
short fifth metacarpals
lateral thinning of eyebrows
deformed rib cage
conjunctival telangiectases
hydromyelia
temporal optic disc pallor
uneven increase in bone density in pinkie finger bone
extrahepatic cholestasis
uneven increase in bone density in 2nd toe bone
synostosis involving bones of the fingers
elevated insulin level
disproportionate short-trunk short stature, identifiable in childhood
unossified vertebral bodies
aplasia/hypoplasia of the cerebellum
cerebral edema
eburnated epiphyses of distal phalanges
brainstem glioma
wide long bone of foot
neoplasia of the nose
limb girdle muscular dystrophy
thyroid hormone resistance
prominence of the zygomatic bone
notched outermost bones of toes
morphological abnormality of the gastrointestinal tract
cervical tumor
prepenile scrotum
enlarged vestibular aqueduct
fragmentation of the epiphyses of the proximal phalanges of the hand
branchial anomaly
easily subluxated first metacarpophalangeal joints
congenital microcephaly
triangular shaped distal phalanx of the 2nd finger
insulin insensitivity
tracheal ectopic calcification
lobular glomerulopathy
difficulty standing
defective tooth enamel
postauricular pit
pinhole visual acuity 3.0 logmar
focal tonic seizures
sacrococcygeal fistula
poorly calcified tooth enamel
abnormal platelet atp dense granule secretion
small bridge of nose
short proximal phalanx of the fourth toe
abnormality of the end part of the innermost bone of the pinkie toe
retinal pigmentary anomaly
elevated imprint of occipital bone over the transverse sinuses
slowed slurred speech
osteolysis of scaphoids
ewing's sarcoma
gaped mouthed appearance
abnormality of sharpey fibers
partial left sided absence of pericardium
aplasia of the uterus
hypotrophic anterior nasal spine
reduced protein s activity
single isolated chrpe
type iv truncus arteriosus
leukocyte inclusion bodies
aplasia of the falx cerebri
vertebral arch abnormalities
muscle atrophy, generalized
loss of renal function
absent/underdeveloped tragus
abnormality of the distal phalanx of the 3rd toe
absent lower eyelashes
spinocerebellar tract disease in lower limbs
hypotonia, early
electromyogram abnormal
teratoma
cornea-iris adhesion
abnormal branching pattern of the aortic arch
moderate neural deafness
pneumonia
muscle degeneration
small pituitary gland
wasting of the tongue
abnormality of the thorax
elevated phospho-creatine kinase after exercise
tricuspid stenosis
gonadoblastoma, female
helix abnormal
onychodysplasia
premature exfoliation of teeth
capitate-hamate fusions
funny looking face
increased amount of facial adipose tissue
absent/small bones of 3rd toe
abnormal levels of alpha-fetoprotein
small proximal tibial epiphyses
delayed ossification of vertebral epiphysis
patchy hypopigmentation of hair
multiple joint dislocations
broad phalanges of the hand
abnormality of the end part of the innermost hand bones
episodic tachypnea
fragmentation of the end part of the middle bone of the pinkie toe
abnormality of the cornea
lung disease
brachymesophalangy of feet
increased bone density of end part of the 1st long bone of hand
partial/complete duplication of the proximal phalanx of the 2nd finger
developmental stagnation
synostosis involving digits
total absence of the pericardium
cortical cataract
abnormality of the epiphyses
underdeveloped left heart
congenital vertical talus
hypoplasia of the pupil dilator muscle
webbed 2nd and 3rd toes
upper-limb metaphyseal irregularity
peg shaped tooth
type a1 brachydactyly
thoracoabdominal eventration
notched tragus
winged scapulae
lattice corneal dystrophy
increased retinal vascularity
biliary duct atresia
osteogenic sarcoma
cone-shaped epiphyses of hand
camptodactyly of finger
chin with horizontal sulcus
increased pigmentation on the lips
iga deficiency
wide outermost bone of thumb
brittle hair
increased bilirubin
abnormality of secondary sexual hair
dilatation of lateral cerebral ventricles
slow saccadic eye movements
abnormal shape/structure of ear
triangular epiphysis of the distal phalanx of the 3rd toe
juvenile colonic polyposis
conical teeth
forefoot varus
duplicated calf bone
absent right superior vena cava
progressive forearm bowing
hypotrichosis, infantile
absent/underdeveloped pinky finger
elf-like facial appearance
cleft tongue
partial duplication of the outermost bone of the ring finger
broad palpebral fissure
hyperpigmentation of oral mucosa
curved middle phalanx of the 3rd finger
large pelvis bone
fibular deviation of the 4th toe
basal cell epithelioma
cone-shaped end part of thumb long bone
delayed ossification of the sacrum
erythema
delta-shaped epiphyses of the 5th finger
orthostatic syncope
absent/small outermost 2nd toe bone
underdevelopment of bone of forehead
bicoronal synostosis
intimal thickening in the coronary arteries
cns demyelination
peripapillary exudate
abnormal smooth pursuits
early onset petit mal seizures
impaired pain sensation
abnormality of the joints of the upper limbs
gastrointestinal carcinoma
decreased circulating aldosterone level
cerebral aneurysm
paucity of cerebral white matter
ekg j waves
hypertrophy of parotid gland
enlarged end part of finger bones
lack of spontaneous play
pituitary resistance to thyroid hormone
cutaneous syndactyly of second and third toes
urethral atresia, male
mandibular macrognathia
joint contracture of the big toe
retinal arterial abnormality
abnormality of the posterior segment of the eyeball
high urine glycine levels
paramedian lip pit
sclerotic scapulae
hirano bodies
enlarged fontanelles
enlarged epiphysis of the proximal phalanx of the 3rd finger
increased length of shankbone
low blood pressure
aplastic/hypoplastic distal phalanges
simple febrile convulsion
atrophy of cerebellar vermis
decreased circulating cortisol level
sclerosis of the distal phalanx of the 3rd toe
fragmentation of the epiphysis of the distal phalanx of the 3rd toe
broad middle phalanx of the 2nd toe
failure of eruption of permanent teeth
self-injurious behaviour
fusion of cervical vertebrae c2-3
tricuspid valve prolapse
retinal dystrophy
herpetiform corneal ulceration
two underdeveloped breasts
nail dysplasia
stubby finger
variability of dental spacing
abnormality of the parathyroid physiology
abnormality of the corpus callosum
notched hand bones
malnutrition
cyst on spleen
right
ulnar deviation of thumb
csf lymphocytosis
cleft bony palate
symmetrical progressive peripheral demyelination
aplasia of the phalanges of the 3rd toe
reduced facial muscle strength
cerebral venous thrombosis
abnormal level of platelet-activating factor
radial subluxation
high pulse pressure
supramitral ring
crhr defect
excessive growth of inner surface of the skull bones
crumpled ear
duplication of the distal phalanx of the 3rd toe
sclerosis of the 1st metatarsal
abnormality of the thumb
renal aminoaciduria
abnormality of the medullary cavity of the long bones
medulloblastoma
cochlear malformation
abnormal sacral segmentation
inability to produce voice sounds
loss of ability to walk in first decade
mongoloid slant
developmental delay in early childhood
abnormality of glycoprotein metabolism
dysplastic nails
inability to close the eyelids
bladder incontinence
glomerulosclerosis
big mandible
epiphyseal stippling in neonates
enlarged epiphyses of the proximal phalanges of the hand
flared wide portion of long bone
outer ear abnormality
severe hearing loss
absent stapes head
wrist contracture
bracket shaped end part of the middle bone of the middle finger
pancreatic cysts
hypoplastic metacarpal
detachment of fingernails
absent epiphysis of the proximal phalanx of the 2nd finger
short fetal femur length
abnormality of lung artery
depressed zygomatic bone
pustule
absent/small middle bones of toe
pustula
abnormal respiratory motile cilium morphology
hyperphenylalaninemia
speech articulation difficulties
myopia
postnatal macrocephaly
knee flexion deformity
platybasia
coronal synostosis
chronic atrophic gastritis
abnormality of lingual artery
retinal 'bone corpuscle' pigmentation
decreased size of deciduous teeth
diffuse reticular or finely nodular infiltrations
skin sulcus behind the ear
melanoma
shoulder flexion contracture
periorbital swelling
refractory anemia with ringed sideroblasts
abnormality of the shoulder
cherry red spot of the macula
myofibrillar myopathy
scalp pain
impaired visuospatial constructive cognition
enlarged end part of middle finger bone
non-hodgkin lymphoma
afro-textured hair
obsolete loss of heterozygosity, multiple chromosomes
triplication of spinal cord
flexion contracture of the 2nd finger
nodular calcific aortic valve disease
fetal onset
precociously ossified carpal bones
bullet-shaped proximal phalanx of the 2nd finger
dyschromatopsia, blue-yellow
progressive intervertebral space narrowing
increased bone density in collarbone
high scapula
deep set eye
delayed cognitive development
curved phalanges of the thumb
cataracts, posterior, subcapsular, iridescent
short phalanx of the third toe
duplication of the middle phalanx of the third toe
thin hair
maturity onset diabetes of the young
rotated upper central incisors
right-sided
hypoplastic frontal bones
nephropathy
hypoplastic tricuspid valve
abnormality of the middle bone of pinkie finger
word blindness
absent fingernail
small trapezium
regional left ventricular wall motion abnormality
triangular end part of innermost long bone of index finger
pulmonary myomatosis
ivory epiphyses of the fingers
neurodevelopmental abnormality
mitral valve regurgitation
congenital facial diplegia
increased bone density of end part of the pinkie toe bone
abnormality of the little toe bones
lower extremity joint dislocation
abnormality of connective tissue
anal margin paget's disease
underdeveloped clavicles
small end part of the innermost bone of little finger
loosejointedness
thoracolumbar gibbus deformity
retinal pigmentary degeneration
ventricular arrhythmias
flat back of the skull
neoplasm of the oral cavity
horizontal chin skin cleft
contractures of the carpometacarpal joint of the thumb
madelung-like forearm deformities
enlargement of the costochondral junction
calcification of the aorta
elevated maternal serum alpha-fetoprotein
abnormality of the end part of the middle bone of the middle finger
undermodelled hand bones
irregular epiphyses of the metacarpals
convergence insufficiency
abnormality of the epiphyses of the 3rd toe
loss of facial subcutaneous adipose tissue
malformation of auricle
agenesis of eyebrow
ridging of frontal suture
hypoplasia of proximal fibula
abnormality of alanine metabolism
gap between front teeth
everted upper lip vermilion
reticulated skin pigmentation
symmetric syndactyly, toes 4 and 5
fused innermost bone of ring finger
loose skin
abnormality of the csf
endplate irregularity
pulmonary hemangiomas
pointy chin
nosebleed
elevated placental alkaline phosphatase
joint contracture of the 3rd finger
flegel disease
macular exudation
short pinkie toe bone
broad skull shape
front fontanelle stays open
surfer's eye
abnormal mitochondria in muscle tissue
abnormality of the vasculature of the eye
absent/small pinky finger bones
elevated serum cpk
bullet-shaped outermost bone of the thumb
abnormality of the musculature of the upper limbs
stage 3 chronic kidney disease
abnormality of the os naviculare pedis
rigors
large skull
eeg with irregular generalized spike and wave complexes
arterial hypotension
congenital dislocation of the hip
absent/small middle 5th toe bone
coned epiphyses of hands
episodes of neisserial infection
gastrointestinal hemorrhage
absent left sided atrioventricular connection
heterotopia
vertical insufficiency of face
flattened metatarsal heads
hypotrophic forehead
posterior staphyloma
unusual hairline with hair growth on temples extending to lateral eyebrow
abnormal magnesium metabolism
elevated prostaglandin e2
absent shankbone
glossoptosis
dark circles under the eyes
tall shaped skull
frontoethmoidal meningocele
abnormal muscle fiber beta sarcoglycan
slender finger
depressed antibody response to polysaccharide antigens
patchy sclerosis of the phalanges of the 2nd toe
malformation of the upper lip vermillion
nonspherocytic hemolytic anemia
fused innermost bone of pinkie finger with 5th long bone of hand
square pelvis
ureterovesical junction obstruction
broad nasal bridge
mitochondrial proliferation in muscle tissue
absent lung artery
thymoma
hyperpigmentation of exposed areas
abnormality of the sinuses of the head
congenital nuclear cataract
obsolete joint dislocations in young adult
narrow foramen magnum
type 4 total anomalous pulmonary venous connection
flat sella turcica
immunodeficiency
abnormality of the nasal septum
iridoretinal coloboma
sutural cataract
failure of development of mandibular lateral incisor
infundibular ventricular septal defect
downward slanting palpebral fissures
renal malformation
absent/small nails
patchy changes of bone mineral density
prostate cancer
progressive mental retardation
posteriorly rotated
irregular epiphyses of the elbow
vep abnormalities
absent pigmentation of chest
difficulty in walking
poor weight gain
distributed along blashko lines
aplasia of the abdominal wall musculature
mizuo phenomenon
flat head of thigh bone
ambiguous genitalia, male
pericardial lymphangiectasia
supravalvular mitral ring
anterolateral radial head dislocation
impaired temperature sensation
flat end part of innermost thighbone
pinealoblastoma
broad upturned nose
cone-shaped epiphysis of the middle phalanx of the 2nd finger
abnormal central microtubular pair morphology of respiratory motile cilia
staphylococcus aureus infections, recurrent
central visual loss
abnormal platelet granules
flattened vertebral bodies
small nasal tip
short little toe bone
supratentorial atrophy
abnormal myelination
humeral lytic defects
small kneecap
eeg: persistent abnormal rhythmic activity
premature calcification of mitral annulus
speckled calcifications in the end part of the 4th toe bone
cubitus valgus
anterior segment of eye aplasia
abnormality of the bladder
duodenal cancer
trigged by fruit sugar
columella, short
eeg with abnormally slow frequencies
osteomyelitis, especially of the mandible
testicular torsion
atrophic, patchy alopecia
columella, wide
excessive daytime somnolence
decreased volume of lip vermillion
aplasia/hypoplasia involving bones of the hand
acute emergence over hours
testicular seminoma
muscle twitches in eyelid
diastema between front teeth
increased bone resorption
increased bone density of end part of the middle bone of the 2nd toe
increased urinary porphobilinogen
abnormality of bone mineral density involving tarsal bones
ablepharon
agenesis/hypoplastic corpus callosum
chronic axonal neuropathy
abnormal flash visual evoked potentials
bilateral fetal pyelectasia
hypoplastic phalanges of the hallux
hypoplasia of the retina
small paranasal sinus
absence of paranasal sinuses
internal ophthalmoplegia
narrow joint spaces of wrist
partial duplication of the middle bone of the ring finger
abnormality of the trabecular meshwork
clubfoot
episodic flaccid weakness
recurrent cerebellar and extrapyramidal encephalopathy
absent inner eyelashes
intracellular accumulation of autofluorescent lipopigment storage material
posterior vertebral hypoplasia
tumors of striated muscle
increased size of facial muscles
enlarged sylvian cistern
abnormality of the little finger
complete duplication of the middle pinky finger bone
massively thickened long bone cortices
aplasia of the parotid gland
enlarged antitragus
lethal dwarfism identifiable at birth
abnormality of the gastrointestinal tract
small midface
5th finger middle phalangeal hypoplasia
multiple renal cortical microcysts
autoimmune hemolytic anemia
hypoplasia of the lacrimal puncta
low serum calcifediol
cone-shaped epiphyses of the 3rd toe
triangular end part of the innermost bone of pinkie finger
bicornuate uterus
deformity of the lower lip
adrenocorticotropic hormone excess
narrow roof of mouth
poorly ossified calvaria
hypoplastic distal segments of scapulae
foveal hyporeflective spaces on macular oct
hypo-autofluorescent retinal lesion
bullet-shaped middle phalanx of the 2nd toe
small femoral heads
muscle flaccidity
paralysis due to lesions of the principle motor tracts
degenerative liver disease
elevated alkaline phosphatase of hepatic origin
few cafe-au-lait spots
conjunctival whitish salt-like deposits
transposition of the great arteries with ventricular septal defect
short big toe
coma
multiple unerupted teeth
narrowed greater sciatic notch
abnormal drinking behavior
hepatomegaly
aplasia of the proximal phalanx of the 4th finger
flail chest
retinal striation
ph-positive acute lymphoblastic leukemia
biliary tract abnormality
vocal impairment, severe, due to laryngeal cartilage abnormalities
visual impairment since birth
progressive neurologic deterioration
coughing
downturned corners of mouth
erg abnormal
abnormal sperm motility
vestibular schwann cell tumor
vertical forehead wrinkles
abnormality of the innermost bone of the little toe
flat epiphyses
duplication of innermost toe bones
abnormality of the facial nerve
baby eczema
broad flat nasal bridge
areflexia, lower limbs
abnormality of the epiphyses of the 2nd toe
abnormality of copper homeostasis
long styloid process of ulna
truncal hypotonia
ear pain
flat nasal tip
mitochondrial propionyl-coa carboxylase defect
abnormality of facial fat
iridodonesis
reduced red cell adenosine deaminase activity
triggered by
broad innermost bone of the pinkie toe
hypoplasia of the distal phalanges
peripheral vitreoretinal degeneration
short middle phalanx of the 4th finger
prominent supraorbital arches in adult
ecg abnormality
proximal/middle symphalangism of 4th finger
absence of pectoralis minor muscle
short condylar neck of mandible
photosensitive tonic-clonic seizures
taurodontia
hypoplastic/small phalanges of the 4th toe
agenesis of twelve year molar
absent epiphysis of the distal phalanx of the 5th finger
vanishing testis
abnormality of b cells
narrow opening between the eyelids
frontal upsweep of hair
abnormal platelet alpha granule secretion
conchal shelf
absent middle bone of 2nd toe
neuronal loss in basal ganglia
platelet aggregation defect
abnormality of the upper arm
bracket shaped end part of thumb innermost long bone
absence of first permanent molar
choriocapillaris atrophy
delayed relaxation of muscle fibers after contraction
dysfibrinogenemia
duplication of the middle phalanx of the 4th finger
primary central nervous system lymphoma
abnormality of the aryepiglottic fold
basal ganglia necrosis
moderate global developmental delay
minor malformation of the auricles
delta-shaped epiphysis of the distal phalanx of the 5th finger
pancreatic dysplasia
skin adnexal tumor
stationary
abnormality of cells of the erythroid lineage
abnormal fear/anxiety-related behavior
hyperplasia of alveolar process of jaw
ependymoblastoma
abnormal proerythroblast morphology
aplasia/hypoplasia involving forearm bones
club feet
abnormal renal corticomedullary differentiation
hepatic ductopenia
convex glabella
prominent superficial vasculature
structural kidney abnormalities
hives
anterior beaking of thoracic vertebrae
flattended end part of thigh bone
waddling gait
increased size of premaxilla
hypoplastic l5 vertebral pedicle
exercise-induced hemolysis
forgetfulness
pancytopenia
ivory spinal bone
ectopic lacrimal punctum
basal ganglia calcifications
curved pinkie finger bone
tumor
joint haemorrhage
long neck
cerebrovascular ischemia
aplasia/hypoplasia of the proximal phalanx of the hallux
anomaly of the epiphyses
unexplained fevers
multiple gastric polyps
absent middle phalanx of middle finger
laryngeal web
hypopigmentation of the skin
hypoplastic nares
gastric ulcer
epicanthus inversus
obsessive-compulsive disorder
unilateral strabismus
episodic under breathing
unilateral palatoschisis
calcific stippling of infantile cartilaginous skeleton
absent speech development
reduced salivation
decreased circulating cholesterol level
bowed and upward slanting eyebrows
vitreous floaters
deviation of the 4th finger
endolymphatic sac tumor
unopened atrioventricular valve
frontal creases of face
night blindness
hypoplastic/aplastic middle phalanx of index finger
stenosis of the colon
poor school performance
flattening of the talar dome
complete duplication of hallux phalanx
abnormality of tumor necrosis factor secretion
decreased muscle tone
dysplastic aortic valve
henoch-schönlein purpura
impaired social reciprocity
hepatic cysts
enlargement of the inner surface of the frontal bone
ankle stiffness
abnormality of lipid metabolism
absence of palatine bone calcification
dysplasia of corpus callosum
central incisor gap
tibial deviation of the 5th toe
polyhydramnios
cleft upper lip
eeg with polyspike wave complexes
triangular shaped middle phalanx of the 5th finger
absent thumb
hypoplastic pelvis
polyarticular arthritis
pituitary prolactinoma
thin fingers
webbed 2nd, 3rd and 4th toes
centrilobular groundglass opacity
anal margin basal cell carcinoma
eeg: generalized slow activity
pointed hairline at front of head
close sighted
intermittent cerebellar ataxia
widened gap first and second toe
abnormal delayed hypersensitivity skin test
cervical vertebrae hypoplasia
curved phalanges of the 5th finger
transient unilateral blurred vision
subclinical abnormal liver function tests
irregular epiphysis of the distal phalanx of the 4th finger
atypical absence seizures
pulmonary embolism
acrocephaly
decreased body mass index
abnormality of the scalp
poliosis of forelock hair
synostosis involving the 3rd metacarpal
slow breathing
broad metatarsal
pallidal degeneration
small lymph nodes
irregular end part of the 1st long bone of hand
hypoplastic phalanges
witch's chin
increased serum pyruvate
absent end part of the outermost bone of the little finger
hypoplasia of lower jaw
prominent lateral palatal folds
abnormality of the retinal pigment epithelium
neoplasm of the small intestine
decreased size of malar bone
thickened ribs
short feet
pituitary carcinoma
triangular epiphysis of the proximal phalanx of the 5th finger
vestibular areflexia
abnormality of bone formation of calvarium
abnormality of peripheral nerves
bifid nasal tip
nail bed hemorrhage
delayed closure of fontanel
lysinuria
fasciculation
complete duplication of the outermost bone of the index finger
abnormal upper motor neuron morphology
abnormal protein n-linked glycosylation
abdominal bloating
morphological abnormality of the middle ear
hepatic cirrhosis
small end part of the outermost bone of pinky finger
fibular deviation of the 5th toe
teninitis
central blurring of vision
ocular anterior chamber abnormality
medially deviated fingers
vitamin b6 deficiency
onychogryposis of toenails
congenital mitral stenosis
lichenification
thyroid abnormality
hypoplastic/small middle phalanx of the 3rd finger
hypoplasia involving forearm bones
vitreous debris
canted upper jaw
absent/underdeveloped shinbone
nasal regurgitation
underdeveloped vaginal lips
tall shaped cranium
prominent xiphoid process
prominent chin
curved proximal phalanx of the 5th toe
short 3rd long bone of foot
barrett's esophagus
absent middle phalanx of the third toe
blocked eustachian tube
difficulty adjusting from light to dark
narrow fingers
amyotrophy of hand muscles
increased nasal length
triangular shaped distal phalanx of the thumb
large lateral palatal folds
foot deformities
intestinal hemorrhage
1-4 finger syndactyly
acute pancreatitis
decreased serum immunoglobulin
pontocerebellar atrophy
best corrected visual acuity 0.3 logmar
leg edema
calcific aortic valve stenosis
enlarged naris
flat glabella
down-slanting palpebral fissure
nephritis, tubulointerstitial
ocular absence
increased size of frontal sinus
splayed toes
symphalangism of the terminal and middle phalanges of the 5th finger
lack of psychomotor development
duplication of the proximal bone of the ring finger
reduced muscle fiber dysferlin
hypertonic seizures
abnormality of the innermost bone pinkie finger
neoplasm of the gastrointestinal tract
cephalohematoma
teeth with dentinal dysplasia
triple row of eyelashes
irregular patellar contour
underdevelopment of upper jaw bones
adenomatous colonic polyposis
large placenta
thickening of the glomerular basement membrane
coxa vara
speckled calcifications in end part of the middle bone of the pinky finger
osteoporotic forearm bones
hypertrophy of mandible
enlarged end part of the little toe bone
broad middle phalanges of the toes
abnormality of the myencephalon
areflexia
supratentorial neoplasm
keratocystic odontogenic tumor
unicoronal craniosynostosis
absence of alpha granules
morbus crohn
complex organic aciduria
unilateral radial aplasia
paraplegia
large vacuolated foam cells on bone marrow biopsy
curvature of outermost bone of pinkie finger
happy demeanor
h-shaped dimple of the chin
mandibular pain
slow disease progression
absent/underdeveloped foot bones
lingual nodules
carnosinuria
multiple pancreatic beta-cell adenomas
small head
flat tip of nose
hypoplastic 3rd metacarpal
symphalangism affecting the distal phalanx of the 5th toe
hypoplastic/small distal phalanx of the 2nd toe
increased female sex drive
peripheral thrombosis
high urine protein levels
abnormality of the thenar eminence
gross motor impairment
anomalous branches of internal carotid artery
unerupted adult teeth
eeg with multifocal slow activity
mobitz type 1 atrioventricular block
abnormal axial skeleton morphology
paresis of extensor muscles of the big toe
extra upper front tooth
immunologic hypersensitivity
anterior position of the premaxilla
increased csf lactic acid
aplasia/hypoplasia of the phalanges of the 5th finger
choroidal hemorrhage
decreased hemoglobin
ground-glass opacification
hypopigmented genitalia
cranial defect
absent muscle fiber dysferlin
areas of hypopigmentation and hyperpigmentation that do not follow blaschko lines
triangular proximal index finger phalanx
hypoplastic frontal lobes
flat acetabular roof
short of breath
open bite
increased aortic root diameter
pes cavus
cone-shaped end part of the pinkie finger bones
neoplasia of the stomach
abnormality of tryptophan metabolism
malrotation of colon
abnormality of mandible condylar process
pancreatic fibrosis
duplication of the distal phalanx of the 5th finger
self-mutilation
underdeveloped major sweat glands
fused hand bones
dysplastic sacrum
exfoliative dermititis
absent/underdeveloped 5th long bone of hand
low t cell count
semantic dementia
absent/small ankle bone
bowel incontinence
atrial flutter
large hands
decreased urine magnesium
precocious puberty in males
abnormality of radial epiphyseal plates
high serum testosterone levels
broad middle phalanx of the 2nd finger
kidney degeneration on one side
abnormality of the hip joint
maternal oligohydramnios
tessier cleft number 7
thickened nuchal skin
calcified ovarian cyst
complete duplication of the first long bone of hand
giant cell hepatitis shown on biopsy
absence of spontaneous respiration
generalized inability to sweat
ragged cuticle
increased bone density of end part of the innermost bone of the big toe
stammering
painful menstruation
infrequent generalized seizures
hyperactive behavior
severe platyspondyly
proximal/middle symphalangism of 5th finger
diastema
flat midface
speech disorder
partial duplication of the distal phalanx of the third toe
bone infarction
abnormality of corneal epithelium
abnormally shaped teeth
calcification of muscles
conjugated hyperbilirubinemia
rectovaginal fistula
pulp stones
partial duplication of the bones of the ring finger
abnormal speech discrimination
abnormality of end part of pinkie finger bone
decreased electroretinogram amplitude
uveitis
cerebellar anomaly
broad wide portion of thigh bone
pseudoarthrosis
outer ear tumor
muscle weakness, progressive, proximal
malformation of brainstem structures
pigmentary skin changes
premature birth following premature rupture of fetal membranes
abnormality of the pituitary fossa
insulin-resistant diabetes
absent or hypoplastic metacarpals
lacticaciduria
bitemporal widening
intestinal obstruction
thick vermilion border of lower lip
thenar muscle hypoplasia
recurrent infection of the gastrointestinal tract
aplasia/hypoplasia of the phalanges of the 4th finger
deformity of the nasal dorsum
defective or absent horizontal voluntary eye movements
speckled calcifications in the end part of the 1st long bone of foot
absent middle phalanx of 3rd finger
overmodelled hand bones
orbital craniosynostosis
suck reflex
congenital conductive hearing impairment
acute monocytic leukemia
conjunctival nodule
chronic sinusitis
pre-excitation syndrome
irregular ossification of the radial metaphysis
secondary amenorrhea
decreased activity of nadph oxidase
abnormality of the ear
subepidermal blistering with cleavage in the lamina lucida
acute hyperammonemia
deep nasolabial groove
conoid upper lateral incisors
outward turned lips
neonatal lethal
hypoglycemic episodes
pit above the ear
bullet-shaped outermost bone of ring finger
low posterior hair line
elevated immunoglobulin levels
progressive fusion 2nd-5th pip joints
abnormality of hair growth rate
lateral clavicle hook
missing nasal bridge
deficiency of neck muscle
decreased plasma methionine
adrenocorticotropin deficient adrenal insufficiency
decreased nerve conduction velocity
complete duplication of the innermost 3rd toe bone
narrow small joints of the hand
shortening of all middle phalanges of the toes
convex nasal ridge
bifid tongue
pronounced forehead
parakeratosis
lower limb hyperreflexia
gonadal dysgenesis
absent/small outermost big toe bone
small teeth
ambiguous genitalia due to virilization
muscle fiber tubuloreticular inclusions
triangular shaped outermost bone of the big toe
duplication of the distal phalanx of hand
decreased fucosylation of n-linked protein glycosylation
clubbing of fingers and toes
absent ribs
paroxysmal tachycardia
infertility
cleft vertebral arches
micromelic dwarfism
small epiphysis of the distal phalanx of the thumb
neoplasia of the penis
male hypogonadism
delayed early motor milestones
obsolete platyspondyly (childhood)
deafness, sensorineural, prelingual
dependency on intravenous nutrition
systemic capillary leak syndrome
arteritis
aplasia/hypoplasia of the cervical spine
inward turned middle finger
anti-thrombin iii deficiency
broad outermost hand bones
bruisability
renal anomaly
portal vein thrombosis
abnormality of the proximal phalanges of the hand
difficulty finding words
chylolymphatic mesenteric cyst
absent middle bone of little finger
triangular end part of the middle bone of the 4th toe
testicular dysgenesis
abnormality of the larynx
decreased intracranial pressure
curved fingers
sensorimotor polyneuropathy affecting arms more than legs
delayed eruption of secondary dentition
duplication of the proximal bone of the middle finger
chorioretinal abnormality
lingual inflammation
abruptio placentae
pseudoepiphysis of the middle phalanx of the 4th toe
morphological abnormality of the central nervous system
congenital strabismus
abnormality of the bed nucleus of stria terminalis
anomaly of the pituitary fossa
fine, reticulate skin pigmentation
pyruvate dehydrogenase complex deficiency
speckled calcifications in the end part of the middle bone of the 4th toe
absent/underdeveloped thorax bone
urinary tract atresia
farsightedness
hypoplastic inferior ilia
unequal sides of maxilla
t-cell dysfunction
small mandibular condyle
progressive brain disease
elongated neck
congenital hypoplastic anemia
anomaly of mouth size
generalized osteosclerosis
small iliac bodies
overjet
absence of primary mandibular lateral incisor
wide innermost bone of 4th toe
multiple impacted teeth
absent patellas
short first metacarpals
esophagus ulcer
absent patellae
small foramen magnum
urinary tract neoplasia
low tissue non-specific alkaline phosphatase
short pinkie toe
neoplasm of the inner ear
multiple chromosomal breaks
secondary generalized tonic-clonic seizures
absent/small pancreas
abnormality of depressor labii inferioris muscle
partial duplication of the proximal bone of the middle finger
hypoplastic thyroid
thyroglossal cyst
birth weight less than 10th percentile
cardiac fibroma
choreoathetosis, episodic
decreased breadth of philtrum
increased width of incisor
oval transradiancy of humerus
severe prenatal growth deficiency
loss of eyebrows
increased urinary copper concentration
bumpy tongue
abnormal serum vitamin b12
obsolete overgrowth of middle finger
recurrent middle ear infection
resistance to thyroid hormone
focal seizures, afebril
complete duplication of the middle bone of the pinky toe
dysgenesis of the hypothalamus
fragmentation of end part of the middle bone of the middle finger
abnormality of cells of the lymphoid lineage
decreased calcification of skull
hypoplasia or unilateral/bilateral absence of ulna
right unilambdoid synostosis
diabetes insipidus
abnormality of levator labii superioris alaeque nasi muscle
torsade de pointes
missing end part of the middle long bone of the index finger
abnormal platelet lysosome secretion
dysgenesis of the hippocampus
occasional
enlargement of the outermost thighbone end part
lacticacidemia
buphthalmos
pseudoainhum
spurs of radial diaphysis
osteolytic defects of the proximal phalanges of the hand
uneven increase in bone density in index finger bone
small end part of the innermost bone of pinkie finger
triceps hypoplasia
long palpebral fissures
irregular phalanges
delayed dental eruption
emotional lability
increased hepatocellular carcinoma risk
delayed pneumatization of the mastoid process
skeletal muscle atrophy
triangular shaped outermost pinkie finger bone
increased number of teeth
progressive loss of facial subcutaneous adipose tissue
anal atresia
auditory canal atresia
enlarged vaginal lips
mongolian spot
asymmetric crying face
klippel-feil syndrome
global paralysis of gaze
abnormality of the mineralisation or ossification of the epiphyses
congenital small head
hypoalbuminaemia
osteolytic defects of the distal phalanx of the 3rd finger
myelopathy
paroxysmal laughter
sudden cardiac death
lateral displacement of patellae
absent/underdeveloped middle bones of toe
lacrimal duct stenosis
slipped capital femoral epiphyses
broad femoral neck
neck pain
plexiform neurofibroma
focal white matter lesions
failure to exfoliate primary teeth
insulin-resistant diabetes mellitus at puberty
rough hair texture
paradoxical breathing
loss of larger myelinated nerve fibers
small end part of the innermost hand bones
anomaly of face
shortened phalanges
preauricular skin tags
irregular epiphyses of the 5th toe
missing bridge of nose
enlarged end part of the outermost bone of the pinkie toe
profuse pigmented skin lesions
narrow ear canal
abnormal tooth count
chronic myelomonocytic leukemia
dark color of gums
abnormal shape of pelvis bone
lobulate tongue
excessive growth of skull bones
abnormality of the endocrine system
polymorphic and polytopic ventricular extrasystoles
increased urinary cortisol level
craniopharyngioma
cerebral gyral anomalies
situs inversus totalis
arachnodactyly
abnormality of dental color
toe walking
absence of permanent upper central incisor
hypernasal voice
displacement of big toe
impulsivity
pulmonary venous occlusion
prognathia of the upper jaw
preaxial polydactyly
joint hyperflexibility
absent/small toenails
aplasia/hypoplasia of the biceps
missing lower lateral incisor
epibulbar dermoid
aplasia/hypoplasia of the distal phalanges
abnormality of the lacrimal duct
vitreous haze
extra finger
transitional cell carcinoma of the bladder
big sella turcica
osteolytic defects of the distal phalanx of the 2nd toe
cafe-au-lait spot
parungual fibromas
curved 2nd toe phalanx
tongue atrophy
gordon reflex
neonatal intestinal obstruction
vertebral arch anomaly
increased vertical length of upper lip
sclerosis of the phalanges of the thumb
pleuropulmonary blastoma
abnormality of the adrenal glands
osteolysis involving bones of the lower limbs
abnormality of the periorbital region
total ophthalmoplegia
aplastic/hypoplastic nasopharyngeal adenoids
nephrotic syndrome
abnormality of the respiratory system
medullary thyroid carcinoma
cerebrospinal fluid with increased protein
dropped arches
organoid nevus
abnormal morphology of the hippocampus
disproportionately long ulnae
post-partum hemorrhage
partial duplication of outermost pinky finger bone
small end part of ring finger bone
aortic arch dilatation
curved middle phalanx of the 2nd toe
oval facies
wide anterior fontanel
bullet-shaped outermost bone of the pinky toe
polydactyly affecting the 4th toe
saccadic pursuit movements
small to absent calf bone
glomus jugular tumor
patchy sclerosis of the distal phalanx of the 4th toe
granulocytic hyperplasia
cardiac teratoma
short ears
crooked front teeth
speckled calcifications in end part of pinkie finger bone
adrenocortical cytomegaly
uterine rupture
alveolar ridge excess
triangular epiphysis of the middle phalanx of the 4th toe
pulmonary infections, recurrent
disconjugate eye movements
decreased length of upper eyelashes
disproportionately large head
increased projection of upper jaw
abnormal muscle fiber dystrophin expression
triangular shaped middle bone of the ring finger
disintegration of the tubular basement membrane
obsolete rhythm disturbances associated with pheochromocytoma
abnormal sudomotor regulation
abnormality of the soft palate
failure of development of maxilla
oropharyngeal squamous cell carcinoma
osteolysis of tali
triangular nasal tip
nail pits
anomaly of the temporomandibular joint
retinal pigment clumping
decreased beta galactosidase activity
macrodactyly of toe
neoplasia of the urethra
abnormal external genitalia
wide metaphysis of innermost thighbone
diaphragmatic defect
short innermost bone of little toe
hypoplasia of the odontoid process
abnormality of fontanelles
black pigment gallstones
abnormal immunoglobulin level
multifocal epileptiform discharges
obsolete expanded proximal phalanx of the ring finger
hypoplastic/aplastic fibulae
aplasia/hypoplasia of the gallbladder
flattened head of long bone of hand
abnormality of ulnar metaphysis
unaided visual acuity 1.2 logmar
loss of facial expression
absent/small lens
radial deviation of thumb terminal phalanx
posterior polar cataract
abnormality of hard tissues of teeth
cutaneous syndactyly
structural foot deformity
absence of maxillary bicuspid
triangular shaped proximal phalanx of the 3rd finger
perivascular spaces
underdeveloped breasts
facial palsy
wide index finger bones
renal tumors
microphakia
bracket shaped end part of thumb outermost long bone
detached retina
female hypogonadism
ineffective erythropoiesis
increase in astrocyte number
irregular myelin foldings
short proximal phalanx of the 3rd finger
fusion of upper and lower lips
flattening of the zygomatic bone
teeth with thin dentin and large pulp chambers
early cutaneous photosensitivity
webbed 1st-5th fingers
short innermost finger bones
diabetic ketoacidosis
dysplasia of second lumbar vertebra
cone-shaped end part of the middle bone of the pinky toe
small to absent fibula
cartilaginous ossification of rib
partial duplication of the outermost bone of the pinky toe
myelocystocele
long metacarpals
abnormality of the proximal radial epiphysis
aplasia/hypoplasia of the middle phalanx of the 3rd finger
symphalangism affecting the proximal phalanx of the 4th toe
odontogenic tumor
mastoid agenesis
dysostosis multiplex
calcaneovalgus
horizontal opticokinetic nystagmus
symphalangism of index finger phalanges
abnormal csf findings
abnormal urine potassium concentration
aplasia of the middle phalanx of the 2nd finger
loose redundant skin
cone-shaped end part of bone
medullary nephrocalcinosis
small end part of the outermost bone of the pinky toe
yellow-brown tooth shade
prominent styloid process of ulna
absence of mature b cells
flaring of lower rib cage
horseshoe kidney
tapered humerus
bullet-shaped bones of the 2nd toe
sclerosis of the distal phalanx of the 4th finger
hyperkeratosis, gingival
eeg with hyperventilation-induced focal epileptiform discharges
pterygium
cervical osteoarthritis
self-biting
preretinal heme
hyperuricaemia
synophris
unequal pupil size
recurrent phlebitis
deviation of the 2nd finger
failure of development of primary mandibular lateral incisor
cleft lower jaw
equinovarus deformity
increased tooth count
extra middle finger
bracket epiphysis of the distal phalanx of the 5th finger
late sensorineural hearing loss
antihelix, inferior crus, underdeveloped
abnormality of the outermost bone of the toes
anomalous origin of left coronary artery from the pulmonary artery
high arched eyebrows
hypoplasia involving bones of the lower limbs
sirenomelia
flexion contracture of hips
mirror movements
fasting hypoglycemia
sclerotic foci of the humerus
notched nail
freckles in sun-exposed areas
hyperinsulinemia hypoglycemia
wasting of quad muscles
corneal crystals
absent forearm bones
skin appendage neoplasm
duodenal atrophy
lingual prominence
elongated long bone of hand
wide mouth
carpal delayed ossification
hyporeflexia/areflexia in lower limbs
oxygen desaturation on exertion
hyperchromic macrocytic anemia
abnormality of the digestive system
frequent urinary tract infections
bullet-shaped middle bone of the 4th finger
absent pigmentation of the abdomen
delayed maturation of carpal bones
abnormal absence of menstruation
enuresis diurna
abnormality of the third metatarsal bone
generalized opacification of the cornea
late onset congenital glaucoma
ventricular inversion
clinodactyly of the 4th toe
increased ossification of the internal surface of the frontal bone
cardiac arrhythmia
short proximal thumb bone
visual acuity light perception without projection
broad little finger bones
cone-shaped end part of the little toe bone
spinal meningeal diverticulum
fibrous hamartoma of infancy
abnormality of the submandibular glands
osteolytic defects of the outermost finger bone of the hand
synostosis involving the 4th metacarpal
uneven increase in bone density in the outermost bone of little finger
malformation of the upper lip
nasal tip, deviated
sinus inflammation
hypoplasia of the hypothenar eminence
abnormality of extrapyramidal motor function
best corrected visual acuity 1.0 logmar
reduced factor xi activity
loss of large myelinated fibers
increased bone density in the outermost bone of the 2nd toe
myoglobinuria
pronounced tip of nose
gaze-evoked horizontal nystagmus
abnormal autonomic nervous system physiology
pointed helix
optic nerve atrophy
asymmetry of iris pigmentation
vertical excess of face
deviated fingers
abnormality of the cardiovascular system
supernumerary oral frenulum
abnormality of erythroid lineage cell
bladder fistula
decreased width of philtrum
midline notch of maxillary alveolar ridge
thickening of glomerular capillary wall
facial diplegia
short tubular bones of the hand
peripheral retinal detachment
gerbode ventricular septal defect
osteolytic defects of the middle phalanx of the 4th toe
decreased height of upper lip
duplication of metatarsal bones
decreased resting energy expenditure
autistic behaviors
retarded bone age
hypoplasia of the metatarsal bones
partially dislocated innermost hinge joint of little finger
abnormality of the supraorbital ridges
monocular horizontal nystagmus
skin calcification
enlarged sagittal diameter of the cervical canal
abnormal transfer factor of the lung for carbon monoxide
abnormality of the coagulation cascade
abnormally close eyes
congenital sensorineural hearing impairment
abnormality of the midbrain
osteolytic defects of the phalanges of the thumb
gallstones
chromosomal breakage induced by crosslinking agents
dysgammaglobulinemia
hypoplastic/small little finger
left ventricular non-compaction cardiomyopathy
abnormality of glycosaminoglycan metabolism
vitelliform macular dystrophy
recurrent gastrointestinal infections
abnormality of muscles of mastication
irregular epiphyses of the thumb
cartilaginous ossification of pinnae
breast carcinoma
nail tumor
increased bone density of end part of the middle bone of the pinky toe
high urine urocanic acid levels
low-frequency sensorineural hearing impairment
proximal muscle atrophy
pseudoepiphyses of second metacarpal
autoimmune antibody positivity
decreased projection of zygomaticomaxillary bone complex
progressive gait ataxia
speech apraxia
aplasia/hypoplasia of the proximal phalanx of the 4th finger
punctate opacification of the cornea
subluxation of the proximal interphalangeal joint of the little finger
abnormal number of tubercles
psychomotor regression beginning in infancy
abnormal ankle bone maturation
posterior urethral valve
anomalous origin of one pulmonary artery from ascending aorta
triangular end part of the middle bone of the 2nd toe
polyarticular chondrocalcinosis
hypocortisolemia
narrow hands
reduced visual fields
oedema of the thalamus
abnormal vertebral pedicle morphology
hypoplastic larynx
decreased numbers of nephrons
absent ossification of cervical vertebral bodies
partial duplication of the proximal phalanx of the 4th finger
hyperapobetalipoproteinemia
short face
absence of scalp hair
hypoplastic left atrium
thoracoabdominal ectopia cordis
abnormal tendon morphology
low platelet count
deformity of teeth
increased volume of lip vermillion
benign neoplasm of the central nervous system
accelerated atherosclerosis
hypoplastic fifth fingernail
cervical cord compression
prominent tongue grooves
corticospinal signs
triangular shaped middle phalanx of the 4th finger
intermittent hyperventilation
abnormal visual field test
optic atrophy
unilateral facial weakness
abnormality of isoleucine metabolism
small end part of the middle bone of the pinkie toe
osteolytic defects of the proximal phalanx of the 4th finger
bullet-shaped proximal phalanx of the 5th finger
short fifth metatarsal
neoplasia of the kidneys
ovoid-shaped vertebral bodies
congenital hepatic fibrosis
arnola-chiari malformation
ciliary body coloboma
posterior subcapsular cataracts
small parathyroid glands
rigidity of the temporomandibular joint
genital tract atresia
delayed ossification of the scaphoid
asymmetric peripheral demyelination
large cell lung carcinoma
abnormality of the scapula
blood cancer
constricted retinal arterioles
oral cavity bleeding
decreased rib number
large vacuolated foam cells ('np cells') on bone marrow biopsy
protrusio acetabulae
ridged cranial sutures
decreased size of nasal septum
episodic hypersomnia
narrow, highly arched palate
malformation of the orbital region of the face
rough bone trabeculation
abnormality of the epiphysis of the 3rd metacarpal
stippled calcification of the elbow
asymmetrical distribution of flash visual evoked potentials
severe sun sensitivity
decreased width of dorsum of nose
decreased level of paf
abnormality of facial vein
autosomal recessive inheritance
decreased corneal reflex
elevated levels of phytanic acid
flexion contracture of thumb
curved middle phalanges of the toes
flattening of gum ridges
basalioma of the outer ear
abnormality of ethmoid bone
oral erythroplasia
small toe bones
hypoplastic pubic bones
nonarteriosclerotic cerebral calcification
cone-shaped epiphysis of the proximal phalanx of the 4th toe
wide open anterior fontanelle
abnormality of hairline at front of head
cleft of the mouth
reduced subcutaneous adipose tissue
absent terminal index finger phalanx
prominent deltoid tuberosities
nasal tip, recessed
short fourth metatarsal
periauricular sinus
poor speech development
fragmentation of the epiphysis of the distal phalanx of the 2nd finger
naevi
excessive growth of inner surface of the frontal bone
upper limb spasticity
compulsive hoarding
abnormality of esophagus physiology
aplasia of the middle phalanges of the toes
frontal venous angioma
multiple, subcutaneous nodules
triangular epiphysis of the proximal phalanx of the 4th finger
bracket shaped end part of the middle long bone of the index finger
fused middle finger
small intestinal hemorrhage
proximally placed halluces
aplasia of the phalanges of the toes
abnormality of the internal acoustic meatus
optic disc drusen
bleeding requiring red cell transfusion
hirschsprung megacolon
pretesticular azoospermia
first metatarsal hypoplasia
poorly developed skeletal musculature
chronic constipation
deep anterior chamber
triangular end part of the outermost bone of the 3rd toe
abnormal rapid eye movement sleep
s-shaped opening between the eyelids
multiple rows of eyelashes
aplasia of facial bones
absent epiphysis of the distal phalanx of the hallux
increased horizontal dimension of philtrum
flared nostrils
bullet-shaped middle toe phalanx
brain tumor
broad outermost bone of big toe
heinz body anemia
glutaric acidemia
enlarged end part of innermost thighbone
radially displaced index finger phalanges
symphalangism affecting the middle phalanges of the toes
bullet-shaped bones of the pinky toe
bilateral cleft lip and palate
narrow nasal root
hyperkeratosis
abnormal middle bones of toe
absent outermost bone of the toes
blepharoclonus
pseudoepiphysis of the distal phalanx of the 4th finger
left ventricular noncompaction cardiomyopathy
vulvodynia
focal lissencephaly
incompetent cervix
dental caries
pulmonary artery dilatation
fragmentation of the end part of the pinky finger bones
abnormality of the patella
abnormality of the brachial nerve plexus
blood group antigen abnormality
type iii lissencephaly
notched primary central incisor
heavy supraorbital ridges
vaginal hydrocele
soft tissue swelling of hinge joints
thick sclera
back knee
severe delay in maturation of wrist bone
ganglioneuromatosis
anterior wedging
arteriovenous fistulas
duplication of the middle phalanx of the 3rd finger
failure of eruption of multiple permanent teeth
absent optic nerve
mesomelic short stature
lower limb degeneration
verbal dyspraxia
spondylolisthesis
broad proximal phalanx of the 5th finger
congenital intracerebral calcification
nephrolithiasis
contractures of the metatarsophalangeal joint of the hallux
absent ring finger
small distal phalanx of big toe
underdeveloped pec muscle on one side
kinky hair texture
cone-shaped end part of the innermost bone of the little toe
aplasia sinus frontalis
recurrent thromboembolism
pigmentation of the outer white part of the eyeball
abnormality of neuromuscular transmission
right unicoronal synostosis
small epiphysis of the 1st metacarpal
gibbus deformity
calcaneal epiphyseal stippling
darier's sign
dental cavities
poorly mineralized tooth enamel
irregular ankle bone maturation
patchy sclerosis of the phalanges of the 4th toe
4-5 toe syndactyly
hypoplasia of lingual frenulum
antihelix, stem, serpiginous
urethral fistula
speckled calcifications in the end part of the big toe bone
abnormal skin color
flat end part of outermost thighbone
nasal anomaly
long toes
partial/complete duplication of the distal phalanx of the thumb
ovoid thoracic and lumbar vertebrae
agyria
low blood potassium levels
aplasia of the fingers
reduced factor xiii activity
asherman syndrome
recurrent e. coli infections
histidinuria
poor visual behaviour for age
breast hypertrophy
arnold-chiari malformation
hyperkeratotic papule
morphological abnormality of the nerves of the inner ear
underdeveloped bladder
pits around the ear
sweat gland disease
open comedo
non-occlusive coronary artery stenosis
unilateral wrist contracture
degeneration of the spinocerebellar tracts
hyperprostaglandinuria
excessive production of saliva
decreased csf homovanillic acid
absent iris
abnormality of the fetal cardiovascular system
vaginal tumor
bifid terminal phalanges of the hand
aplasia/hypoplasia of the eyebrow
broad middle phalanx of the 3rd toe
sclerosis of humeral diaphysis
hyperlipoproteinemia
bracket epiphysis of the 1st metatarsal
type 2 muscle fiber predominance
hypoandrogenism
diffuse swelling of cerebral white matter
primary hypogonadism
radial deviation of the hand
enlarged interpeduncular cistern
tarsal fusions
intracranial cystic lesion
abnormal eeg
shovel-shaped maxillary central incisors
wide tips of outermost digital bone
cerebral calcification
wide metacarpals
renal tubular dysgenesis
absent respiratory ciliary axoneme radial spokes
micromelia
atrioventricular canal
abnormality of the 3rd metacarpal
decreased length of pharynx
absent/small backbone
bradykinesia
adrenal hyperplasia
wide long bone of arm growth plate
missing primary mandibular lateral incisor
tarsal bone osteolysis
decrease in jaw opening
respiratory function loss
irregular end part of the outermost bone of the big toe
mosaic corneal dystrophy
flattening of cranium
decreased igm level
round facies
ectopic ossification in ligament tissue
oxycephaly
wrist flexion contracture
increased bowel sounds
short middle phalanx of finger
mental retardation, progressive
enlarged end part of the middle bone of the 3rd toe
abnormal shape of pelvic girdle bone
aplasia of the proximal phalanx of the 2nd toe
stippling of the epiphysis of the middle phalanx of the 3rd finger
underdevelopment of baby teeth
hypernasal speech
intoe
delayed speech and language development
respiratory complex ii deficiency
abnormal t cells
recurrent viral skin infections
hypertrichosis cubiti
abnormality of the forebrain
sinus venosus atrial septal defect
testicular hypoplasia
abnormal male genitals
neoplasm of the gallbladder
diabetes mellitus type ii
abnormality of proteoglycan metabolism
aplasia/hypoplasia of the spleen
paraparesis
lytic defects of middle index finger phalanx
decreased function of male gonad
abnormality of the wide portion of shankbone
mixed respiratory and metabolic acidosis
short stepped shuffling walk
hyperparakeratosis
decreased facial muscle tone
obsolete malformation of the heart and great vessels
elevated intracellular cystine
ectopia pupillae
underdeveloped triceps
generalized hirsutism
joint hyperextensibility
solitary median maxillary central incisor syndrome
symphalangism of the proximal phalanx of the 4th finger with the 4th metatcarpal
increased naive b cell count
abnormality of the macula
multiple-type hyperlipoproteinemia
large fontanels
arteriosclerosis of small cerebral arteries
muscle atrophy, proximal
duplication of the outermost bone of the 2nd toe
abnormality of the styloid process of ulna
gait instability
duplication of the middle bone of the little toe
camptodactyly of toe
partial duplication of the distal phalanx of the 3rd finger
medial calcification of large arteries
hypomyelination
mask-like facies
dental decay
abnormal alpha granules
long cerebellar peduncle
laryngeal paralysis
degeneration of lateral corticospinal tracts
patchy hyperpigmentation
shortening of the tibia
humeral pseudarthrosis
ectopic posterior pituitary
anemia of inadequate production
subconjunctival hemorrhage
abnormal muscle fiber calpain-3
spinal stenosis due to short pedicles
gonadotropin deficiency
primarily generalised tonic-clonic seizures
crohn's disease
hyperextensibility at wrists
absent/underdeveloped optic tract
abnormality of the distal phalanx of the little finger
abnormal shape of end part of upper limb long bones
endometriosis
cone-shaped epiphyses of the 2nd toe
lymphoproliferative disorder
renal stones
missing lower premolar
intraaxonal accumulation of curvilinear profiles
antihelix, stem, underdeveloped
recurrent fractures
large midface
aplasia of the middle phalanx of the 2nd toe
hemihypotrophy of lower limb
partial duplication of the middle phalanx of the 3rd finger
increased liver function tests
liver kidney microsome type 1 antibody positivity
abnormal acetylcarnitine profile
increased sweating
hypospadias
pseudoepiphysis of the 4th metacarpal
increased sickling of erythrocytes
dysplastic distal thumb phalanges with a central hole
abnormal serum estrone
absent gallbladder
fear of loud sounds
ambiguous genitalia, female
recurrent paroxysmal headache
aposthia
choriocarcinoma
abdominal symptom
rosacea
ovine arch
abnormality of the anterior horn cell
quadriplegia
ureteral anomalies
abnormality of the humerus
partial/complete duplication of phalanges of the 3rd finger
abnormality of styloglossus muscle
increased bone density in the middle bone of the little toe
homocystinuria
abnormal spermatogenesis
generalized tonic-clonic seizures with focal onset
nevi
ivory epiphysis of the proximal phalanx of the 5th toe
increased thickness of calvaria
bloody urine
abnormal kidney function
hypoplasia of midface
broad pinky toe
wide/broad index finger phalanges
eeg with occipital sharp waves
large mandible
white scaling skin
enlarged peripheral nerves
commissural lip pit
small, cone shaped teeth
abnormal size of pituitary gland
thick craniofacial bones
decreased skeletal muscle cytochrome c oxidase activity
late-onset muscular dystrophy
tyrosinemia
necrotizing encephalopathy
brachydactyly of the foot
intermediate uveitis
wide humeral epiphyseal plate
hypomineralization of enamel
midline facial cleft
congenital absence of skin
ectopic spleen
increased adipose tissue
retrognathia
abnormality of the eye
rudimentary fallopian tubes
small to absent patellae
posterior synechiae of the anterior chamber
language impairment
low anterior hairline
histrionic personality disorder
joint contractures
abnormal circulating gonadotropin level
irregular end part of the middle bone of the pinky finger
large cheeks
double aortic arch
scissors gait
absence of upper front tooth
abnormality of chromosome segregation
humeral cortical irregularity
intestinal bleeding
enlarged end part of long bone of hand
absent end part of the innermost bone of the ring finger
non-caseating epithelioid cell granulomatosis
morbus scheuermann
distal muscle weakness in lower limbs
advanced ossification of carpal bones
absence of visual evoked potentials
elevated erythrocyte sedimentation rate
cone-shaped end part of the middle bone of the 4th toe
decreased urinary urate
teeth without roots
sperm neck anomaly
absent mastoids
tapering of outermost end of thighbone
very rare
macular coloboma
narrowing of pulp chamber of tooth
fragmentation of end part of the middle bone of the pinkie finger
saccadic smooth pursuit
paraganglioma of head and neck
early graying
colon cancer
irregular end part of the outermost bone of pinky finger
cone-shaped end part of the innermost bone of the big toe
duplication of the outermost pinkie finger bone
reduced protein c activity
pointed proximal metacarpals
linear retina heme
episodic hyperhidrosis
multiple pigmented nevi
jerky smooth pursuit
underdeveloped tear gland
radmecker complexes
diastema between incisors
unguarded tricuspid valve
cerebellar glioma
cerebral vasculitis
absent dorsal skin creases over affected joints
abnormal cerumen colour
broad proximal phalanx of the thumb
duplication of the middle bones of hand
abnormal level of biopterin
intracerebral periventricular calcifications
punding
horizontal pendular nystagmus
amniotic bands
prominent digit pad
vertical hyperplasia of philtrum
rounded shoulders
aplasia/hypoplasia involving bones of the extremities
shallow acetabulum
axenfeld anomaly
hemothorax
pseudoepiphyses
false denticles
intralobular interstitial thickening
asymmetric radial dysplasia
large neck muscles
diarrhoea
pseudoepiphysis of the middle phalanx of the 2nd finger
decreased length of nasal septum
irregular articular surfaces of the elbow joints
recto-sigmoid colon stercoral ulcer
large facial muscles
intracranial aneurysm
enlarged phalangeal epiphyses
cone-shaped epiphyses of the thumb
increased sarcoplasmic glycogen
euryblepharon
cerebellar hypoplasia
bracket shaped end part of the middle bone of the pinkie toe
thinning and bulging of posterior skull bones
port-wine stain on neck
salaam convulsions
scapuloperoneal weakness
symmetric, concentric, hypertrophic cardiomyopathy
abnormality of the chin
high blood threonine levels
widened distal phalanges
peripheral nerve compression
cone-shaped phalangeal epiphyses
thick cerebellar peduncles
progressive visual acuity loss
gastric lymphoma
enlarged end part of the middle bone of the 2nd toe
dysplastic pulmonary valve
pancreatitis
abnormality of vitamin a metabolism
liver failure
uroureter
abnormality of the distal femoral epiphysis
primitive reflexes
coronary artery dilation
stippling of the epiphyses of the metacarpals
spinocerebellar degeneration
palmoplantar keratosis
diaphyseal sclerosis of the upper limbs
antecubital pterygium
missing adult lower central incisor
downgaze palsy
increased pigmentation in sun-exposed areas
dark eyelids
cervical c5/c6 vertebrae fusion
abnormality of the menstrual cycle
foot asymmetry
delayed development
abnormal lactate level by magnetic resonance spectroscopy
ectopic anus
marked failure to thrive
enlarged basal cistern
abnormality of the spinal cord
wedge-shaped 12th thoracic vertebra
increased serum bile acid concentration during pregnancy, resolves
reye syndrome-like episodes
agenesis of the nasal bone
anomaly of the nasal skeleton
tracheomegaly
abnormality of the plantar skin of foot
incomplete cheiloschisis
abnormality of the calf bone
precociously senile appearance
mental-retardation
choroidal dystrophy
parietal bossing
syndactyly of second and third toes
osteolytic defects of the middle phalanx of the 3rd finger
natal tooth
absent vas deferens
nystagmus
addison disease
absent nail of fifth finger
aberrant thyroid
prominent veins
anomaly of scalp
paramedian cleft palate
broad proximal phalanx of the hallux
abnormality of the joints of the lower limbs
broad metacarpal epiphyses
hyperautofluorescent retinal lesion
cyclops eye
muscle weakness, distal limbs, due to neuronopathy
diaphyseal sclerosis
conoid primary incisor
absent innermost bone of index finger
abnormality of temperature regulation
median cleft lip
disproportionate shortening of the shinbone
limited neck flexion
focal eeg discharges with propagation to ipsilateral hemisphere
involuntary shaking of limb
high set ears
abnormal immature b cell count
shortening of radius
hypotrophic facial skeleton
facet joint arthrosis
deformity of the malar arch
convergent strabismus
bracket shaped end part of pinky toe bone
interphalangeal joint erosions
abnormality of the middle bone of little finger
defective t cell proliferation
recurrent dislocation of patellas
polycoria
increased depth of philtrum
ventricular preexcitation with multiple accessory pathways
muscle twitches in eye lid
aplastic or hypoplastic patellae
absence of six year molar
salivary gland neoplasia
curved hand bones
abnormality of the wide portion of shinbone
duplication of 3rd toe bone
aplasia of lacrimal puncta
bifid xiphisternum
thick mandibular bone
humeral sclerotic foci
skin bullae
fused innermost and middle bones of 3rd toe
salivary gland disease
poor language development
hypersegmentation of proximal phalanx of second finger
metrorrhagia
abnormal osteoclast count
reduced prothrombin antigen
aneurysm of the aortic sinus
duplication of the outermost bone of the pinky toe
abnormality of premolar morphology
dysharmonic bone age
afro-textured scalp hair
uneven increase in bone density in the middle bone of the 2nd toe
delta-shaped epiphysis of the proximal phalanx of the 5th finger
stomach hernia
muscle fiber desmin-reactive inclusion bodies
hyperaldosteronism
tibialis muscle degeneration
myocardial fibrosis
hemorrhagic stroke
congenital retinal fold
abnormally loose or hyperelastic skin
hypoplasia of the pharynx
snowflake retinal degeneration
degeneration of the lateral corticospinal tracts
fragmentation of the end part of the middle bone of the pinky toe
rubeosis iridis
abnormality of mast cells
depressed cheekbone
mandibular deficiency
abnormality of levator anguli oris
eeg with photoparoxysmal response grade iii
cerebral pachygyria
renal oncocytoma
increased urinary sulfite
triangular shaped little finger bones
delta-shaped epiphysis of the distal phalanx of the 3rd finger
whistling facial appearance
constricted radius
pointed ulnar metaphysis
fused middle bone of middle finger
absent/small ovary
increased length of shinbone
hypoplastic-absent sebaceous glands
jaw joint crepitus
ferropenic
ebstein's anomaly
short metatarsal
right aortic arch with mirror image branching
muscle pain
bleeding within a joint
autoimmune disease
decreased vibratory sense in lower limbs
abnormal dense granule content
intertemporal narrowing
increased horizontal dimension of face
gangrene
overriding aorta
abnormality of the epiphyseal plate of the ulna
decreased visual acuity, slowly progressive
myokymia
abnormal jaw morphology
ureteral duplication
hypertrichosis of the eyebrows
irregular end part of the outermost bone of the little toe
testicular microlithiasis
loss of spinal cord anterior horn cells
atopic dermatitis, chronic
midfacial excess
aplasia/hypoplasia of the phalanges of the 4th toe
elevated follicle stimulating hormone
widely patent fontanelles and sutures
vascular skin abnormality
decreased width of deciduous teeth
laterality
arthralgias
generalized spacing of teeth
triangular epiphysis of the distal phalanx of the hallux
enlarged epiphysis of the distal phalanx of the 2nd toe
cartilage inflammation
decreased transverse dimension of face
congenital exfoliative erythroderma
hypoplastic terminal index finger phalanx
aplasia of the femoral head
anencephaly
alcoholism
aortic valve atresia
agenesis of the lacrimal punctum
chronic furunculosis
broad phalanges of the 3rd toe
retinal arteriolar narrowing
abnormal head of thigh bone
abnormality of the phalanges of the 3rd finger
abnormal anus position
loss of gluteal subcutaneous adipose tissue
rhizomelic shortening
generalized aminoaciduria
ecchymoses
small pec muscle
elevated blood pressure
muscle fasciculation
abnormal brainstem auditory-evoked potentials
hand mirror movements
abnormality of cranial base
decrease in t cell count
irregular epiphysis of the proximal phalanx of the 2nd finger
pheochromocytoma, adrenal
pseudoepiphysis of the middle phalanx of the 3rd finger
absence of adult mandibular lateral incisor
emg: incremental response of compound muscle action potential to repetitive nerve stimulation
cystic lung lesion
deep antegonial notch of mandible
spherocytosis
central nail canal
thymic hypoplasia
intrathoracic cystic hygroma
flattened end part of knee bone
abnormality of the hip joints
absence of stomach bubble on fetal sonography
hyperplasia of nasal tip
partial functional factor d deficiency
cervical vertebral anomalies
iridescent posterior subcapsular cataract
agenesis of bicuspid
rounded epiphyses
short proximal phalanx of the 2nd finger
clinodactyly of the little finger
abnormal rod and cone electroretinogram
joint swelling
broad wide portion of upper limb bone
absent paranasal sinuses
underdeveloped fetal nose bone
distal sensory impairment of the lower extremities
abnormality of adenoids
respiratory infections in early life
cone-shaped epiphysis of the distal phalanx of the 4th finger
cone-shaped epiphysis of the distal phalanx of the 5th toe
ulnar radial head dislocation
enlarged end part of the 3rd toe bone
absent end part of the outermost bone of the pinky finger
bifid palatine uvula
elevated brain n-acetyl aspartate level by mrs
wheezing
symphalangism of the middle and proximal phalanges of the 4th toe
redundant eyelid skin
bulbous nose
rhizomelic short limbs
autism spectrum disorder
hypoplastic kidneys
omega shaped hypophysial fossa
central retinal vessel vascular tortuosity
aplasia/hypoplasia of the distal phalanges of the toes
malalignment of upper and lower dental arches
glomerulonephritis
dens in dente
single transverse palmar creases
abnormal hair pattern
congenital deafness
medial calcification of small arteries
cluster headache
abnormality of calf musculature
disproportionate prominence of the femoral medial condyle
partial/complete duplication of phalanges of the 4th finger
generalized twisted arteries
abnormal amplitude of flash visual evoked potentials
fused long bones of hand
benign prostatic hypertrophy
apraxia
functional motor problems
premature dental eruption
abnormal terminal phalanges of the hand
imbalanced walk
abnormal number of incisors
sawtooth acanthosis
deja vu
female infertility
joint ligamentous laxity
large cisterna magna
secondary alveolar ridges
mandibular condyle hypoplasia
impaired vibratory sensation
fragmentation of the end part of the 1st long bone of hand
tongue tie
increased plasma renin
occipital neuralgia
abnormal collecting system
hypoplastic odontoid process
sclerosis of the proximal phalanges of the toes
optic nerve abnormalities
broad dorsum of nose
high blood valine concentration
high urine occult blood
costochondral pain
increased alpha-globulin
absent microvilli on the surface of peripheral blood lymphocytes
outermost
delayed tarsal ossification
intolerance to heat and fevers
prolactinoma
aplasia/hypoplasia affecting bones of the axial skeleton
incomplete maturation of the public bone
reduced iris pigmentation
hypergalactosemia
lissencephaly, type i
collodion baby
increased transitional b cell count
absent neutrophil specific granules
small hypothenar eminence
eeg with frontal sharp slow waves
webbed index, middle and pinky finger
accessory nostril
fusion of the alveolar ridges
hypoplasia of the nose
abnormal humphrey sita 10-2 perimetry test
conjunctival lipoma
adrenal gland agenesis
severe growth delay in children
malformed tear ducts
fragmentation of the epiphysis of the distal phalanx of the 4th toe
left aortic arch with cervical origin of the right subclavian artery
decreased projection of maxilla
hepatic granulomatosis
obliteration of cranial cancellous bone
bilateral congenital sensorineural deafness
hypoplastic first ribs
hydroxyphenylpyruvic aciduria
cutaneous vasculitis
cleft anterior mitral valve leaflet
trophic changes
poor suck
abnormal tlco
juvenile nasopharyngeal angiofibroma
broad alveolar margins
intrinsic factor absent from gastric juice
aplasia of the eyelids
laryngeal edema
displacement of the 4th toe
horner syndrome
neoplasm of the anterior pituitary
flared wide portion of the upper limb bone
ankle pain
short 3rd toe
solitary median maxillary central incisor
deviation of toes
abnormality of the outermost bone of the 3rd finger
uneven increase in bone density in the outermost bone of the 2nd finger
premature graying of body hair
fasciculation of the eyelid
nemaline bodies
absent middle bone of 4th finger
complete duplication of the outermost bone of the pinkie toe
spinocerebellar tract degeneration
aplasia of the proximal phalanx of the 2nd finger
absent knee end part
wide opening between the eyelids
absent pulmonary artery
aplasia/hypoplasia of the distal phalanx of the hallux
agenesis of maxillary bicuspid
acute myeloid leukemia
eeg with focal spikes
specific learning disability
cleft earlobe
increased serum oestradiol
metaphyseal chondromatosis of humerus
increased bone density in wide portion of long bone
absent pulmonary valve
decreased corneal sensation
primary palate bone excess
posterior y-sutural cataract
abnormality of purine metabolism
hypotrophic eyelid
broad distal hallux
dysplastic kidneys
absent end part of the middle bone of the middle finger
thin uvula
hydramnios
apathy
abnormal lower motor neuron morphology
symphalangism affecting the phalanges of the 2nd toe
gap between upper front teeth
partial/complete duplication of pinkie finger bone
decreased circulating renin level
sphincter disturbances
pseudoepiphyses of the middle phalanges of the hand
abnormally small globe of eye
hyperbetaalaninemia
diffuse lamellation of the glomerular basement membrane
broad phalanges of the 4th finger
progressive forearm curvature
broad 2nd toe
low alkaline phosphatase of hepatic origin
hyperthermia
tilted mouth
increased bone density in middle toe bone
angel's kiss
abnormally shaped eye
increased number of cd4-/cd8- t cells expressing alpha/beta t-cell receptors
partial duplication of the middle bones of hand
shallow orbital ridges
absence of lower central incisor
erythroid hypoplasia in the bone marrow
central y-shaped metacarpal
anal margin squamous cell carcinoma
abnormal hepatic iron concentration
panhypopituitarism
abnormal amplitude of pattern reversal visual evoked potentials
short forearm
severe combined immunodeficiency
absent/underdeveloped toenails
underdevelopment of the primary palate bone
costochondral juctions abnormal
symphalangism of middle phalanx of 4th finger
genitalia, ephelides
prominent back of the head
unilateral external ear deformity
kinetic tremor
abnormality of neuronal migration
conjunctivitis
decreased serum leptin
b lymphocytopenia
reduced von willebrand factor activity
broad radial metaphysis
underdeveloped penis
dysplastic patella
complete duplication of the pinkie finger bone
treacher collins syndrome
obsolete fishnet retinal pigmentation
snout reflex
wide nares
brown pigment gallstones
photoreceptor layer loss on macular oct
failure of development of eye tooth
reduced carbon dioxide in the blood
meningomyelocele
atrial arrhythmia
enlarged epiphysis of the 1st metatarsal
hyperosmolar dehydration
sparse hair
short umbilical cord
bilateral obstruction of the rear opening of the nasal cavity
hypoplasia of the ciliary body
abnormality of the hand
prominent superficial veins
abnormality of levator palpebrae superioris
absent epiphyses of the middle phalanges of the hand
impaired stimulus-induced skin wrinkling
xanthelasma
decreased width of maxilla
geophagia
low apgar score
marked vision impairment
duplicated thumbs
increased lacrimation
absent/underdeveloped cerebellum
peg tooth
yellow-brown discolored teeth
abnormally shaped erythrocytes
tooth decay
cowlick
drumstick shaped digital bones
gingival hyperpigmentation
axillary freckling
hyperinsulinaemic hypoglycaemia
helicobacter pylori infection
electrocardiographic changes
wide outermost bone of ring finger
decreased urine alpha-ketoglutarate concentration
limb tremor
granulocytic hypoplasia
reticulocytopenia
hip flexion contractures
epidermal thickening
arachnoid cyst
bracket shaped end part of the innermost bone of big toe
short upper lip
inability to move vocal cords due to tumor impingement
involuntary dystonic or choreiform movements
facial nerve paralysis
severe deafness
anomalous origin of coronary artery from the pulmonary artery
notched helix
asymptomatic hyperammonemia
short upper arms
muscle mounding
increased muscle tone
excessive bleeding after minor trauma
eeg with generalized sharp slow waves
thyroid stimulating hormone deficiency
deformity of the bridge of the nose
increased urinary sedoheptulose
lateral
cholestasis
high blood phosphate levels
triggered by fructose ingestion
mutism
duplication of the middle phalanx of the 5th finger
chin skin dimple
coronary sinus diverticulum
fused middle bones of 3rd toe
bladder neoplasm
bilateral sensorineural hearing impairment
tongue tied
split ribs
little fontanelle
hypomelanotic macules
intestinal polyps
ovarian gonadoblastoma
common atrioventricular canal
decreased csf neopterin level
irregular epiphysis of the middle phalanx of the 5th finger
fleshy upturned lobules
resting tremor
dumbbell shaped wide portion of long bone
cystic liver disease
chin butt
age of onset
absent triceps
cerebral atrophy, diffuse
brachytelophalangism v
abnormal shape of molar tooth
lobster-claw foot deformity
absent humeral epiphyseal ossification
pulmonary capillary hemangiomatosis
cone-shaped epiphyses of the fingers
anomaly of the midface
left ventricular septal hypertrophy
onychophagia
retinal neoplasm
cloudy cornea
tritanomaly
wide epiphyseal plates of the upper limbs
abnormality of cachexin secretion
abnormal index finger bones
mitral regurgitation, mild
long hairs growing from helix of ear
hypoplastic maxillary bones
abnormality of buccal fat pad
prominent corneal nerve fibers
bullet-shaped phalanges of the hand
curly hair
short distal phalanx of the 3rd toe
dislocations of the wrists
broad distal phalanx of finger
abnormality of phytanic acid metabolism
abnormality of the epiphysis of the middle phalanx of the 4th toe
prominent tip of nose
cartilaginous ossification of larynx
recurrent episodes of otitis media
charcot arthropathy
small proximal middle-finger phalanx
thin eyelashes
facial hypotonia
autoagression
osteolytic defect of the proximal toe phalanx
partial/complete duplication of the proximal phalanx of the thumb
lax skin
longitudinal ridging
niddm
hypertrophy of the breasts
exercise-induced myoglobinuria in adults
anaphylactic shock
cerumen abnormality
type 2 lissencephaly
sclerosis of the proximal phalanx of the 3rd finger
abnormality of facial soft tissue
malformation of the cheeks
abnormality of the ischium
agenesis of permanent mandibular central incisor
radial hypoplasia
anomaly of the frontal bone
tibial metaphyseal irregularity
decreased vibration sense in feet
glioblastoma
hemangioma
loss of articulate speech
retinal vascular tortuosity
dysgenesis of the thalamus
morphological abnormality of the anterior semicircular canal
upper limb postural tremor
opposable triphalangeal thumb
small patellae
hyperplasia of forehead
abnormal sweat homeostasis
absence of lower incisor
sensory impairment
distal ulnar hypoplasia
reduced subcutaneous fat
undetectable electroretinogram
serpiginous crus of helix
brain aneurysm
hollow cheeks
absent end part of the outermost bone of the pinkie finger
absent/small cervical spine
gastrointestinal disease
abnormality of the lung blood vessels
acidosis
volvulus
generalized clonic-tonic seizures
congenital glaucoma
aplasia of the phalanges of the hand
small uterus
notched front primary tooth
lowered consciousness
obsolete abnormality of histidine metabolism
upturned oral commisures
intralobar sequestration
trichodysplasia
prominent interdigital folds
abnormal brain n-acetyl aspartate level by magnetic resonance spectroscopy
underdeveloped toenails
bifid distal phalanx of thumb
broad forearm bones
conical mandibular incisor
short phalanx of the 2nd toe
pseudoepiphysis of the distal phalanx of the 4th toe
prolong qt interval on ekg
multiple bilateral congenital hypertrophy of retinal pigment epithelium
syndactyly, 2-3 finger
crooked dorsum of nose
paroxysmal ventricular tachycardia
ptosis
type b brachydactyly
decreased height of face
vertical hypoplasia of chin
hypoplasia of the calcaneus
hemianopic blurring
hypertrophic muscles
obliterative bonchiolitis
baldness
abnormality of small intestinal villus morphology
shortened sacroiliac notches
hypohidrosis or hyperhidrosis
absent rib calcification in utero
widened outermost bone of limb
limited knee flexion/extension
proximally placed thumbs
bracket epiphysis of the 1st metacarpal
diminished vibratory sense
lingual protrusion
hyperplasia of alveolar ridge
disciform macular scar
friedreich's disease
abnormal diffusing capacity
pseudoepiphyses of the hallux
chronic diarrhea
abnormal sperm morphology
small cranium present at birth
undetectable light-adapted electroretinogram
humeral metaphyseal irregularity
hypoplastic scapulae
hypoplastic male genitalia
delayed maturation of wrist bone
interstitial pneumonitis
very long chain fatty acid accumulation
absent/small pinkie finger bones
tracheal neoplasm
abnormality of the deltoid tuberosities
decreased t3/t4 ratio
unilateral clonic seizures
aplasia of the epiglottis
abnormality of acetylcarnitine metabolism
small scrotum
mildly increased serum creatine kinase
triangular epiphyses of the 4th finger
increased cellular sensitivity to uv light
abnormality of intrinsic lingual muscle
tomacula
non-midline cleft palate
impaired gluconeogenesis
generalized seborrheic dermatitis
increased bone density in pinkie finger bone
helix, discontinuous ascending root
hyperplasia of the tongue
olfactory lobe agenesis
subluxation of metacarpophalangeal joints
cryptorchidism
uneven increase in bone density in middle finger bone
webbed toes
short tongue frenulum
increased mobility of hinge joints
obsolete aplasia of the phalanges of the 3rd finger
sleep disturbance
bowel diverticulosis
increased volume of upper lip vermilion
cavernous angioma
deformity of the upper lip vermillion
stiff shoulders
irregular, dense end plate
bone corpuscle fundus pigmentation
loss of fat tissue below the skin from upper limbs
curved toe bone
triangular end part of the 3rd toe bone
abnormal emg
aminoaciduria
obsolete peripheral vascular insufficiency
abnormality of primary teeth
large of palpebral fissures
abnormality of the striatum
bowing of the arm
hypopituitarism
displacement of the external urethral meatus
enteroviral hepatitis
double outlet left ventricle
renal artery stenosis
visual field defect
decreased width of nasal base
restricted elbow motion
recurrent meningitis
absent toe
abnormality of the 1st long bone of foot
persistence of the hyaloid artery
shoulder girdle muscle weakness
prominent supraorbital margins
paralysis of one side of the face
compensatory scoliosis
cone-shaped end part of the middle bone of the pinky finger
abnormality of the end part of the outermost bone of the pinky toe
small malar bone
coarse hair
fusion of foot joint
bracket shaped end part of the middle bone of the ring finger
low intelligence
abnormality of the female genitalia
missing kidney
irregular proximal humeral metaphyses
ectopic fovea
thigh hypertrophy
calcification of muscle tissue
incomplete male pseudohermaphroditism
cleft at the superior portion of the pinna
excessive skin wrinkling on back of hands and fingers
pruritis on abdomen
loss of distal sensation
facial palsy secondary to cranial hyperostosis
reduced fat tissue below the skin
obsolete flared metaphysis of middle phalanx of index finger
muscle hypertrophy of the lower extremities
small end part of the innermost long bone of index finger
emg: myopathic abnormalities
abnormality of the 1st long bone of hand
development of small head that was not present at birth
erlenmeyer flask deformity of distal femur
dental deformity
congenital absence of breast
enlarged end part of the 1st long bone of foot
aplasia of the proximal phalanx of the hallux
angioneurotic oedema
hydropic placenta
abnormal upper-limb motor evoked potentials
abnormality of somatic nerve plexus
abnormality of eicosanoid metabolism
hooded eyelid
abnormality of the upper jaw bone
bowing of limbs due to multiple fractures
increased incidence of hepatocellular carcinoma
disproportionate short stature
abnormality of the end part of the innermost bone of the 2nd toe
galactosemia
1-2 toe complete cutaneous syndactyly
fusion of the cerebellar hemispheres
short-limb dwarfism identifiable at birth
increased bone density in the innermost bone of the 3rd toe
occasional (29-5%)
hypokinetic seizures
abnormality of teeth spacing
long calf bone
short phalanx of the thumb
psychosis
reduced erg
aculeiform cataract
developmental arrest
hypoplastic index finger phalanges
inflammation of the prostate
humeral bowing
deviation of the thumb
narrow carpal joint spaces
patchy sclerosis of the middle phalanges of the hand
sleep apnoea
increased triglycerides
aplasia of the upper jaw bones
sloping metaphysis of long bone of upper arm
myeloid leukemia
absent ulnae
contracture of the metatarsophalangeal joint of the 2nd toe
malformation of teeth
missing deciduous maxillary central incisor
long clavicles
hypoketotic hypoglycemia
pear-shaped nose
neoplasm of the pituitary gland
patent ductus arteriosus after premature birth
thalamic hemorrhage
small intestine biopsy shows villous atrophy
proximal muscle atrophy in upper limbs
morbus legg-calve-perthes
increased platelet count
amenorrhea
hyponasal speech
bracket epiphyses of the proximal phalanges of the hand
absent trapezium
depressed philtrum
speckled calcifications in end part of the middle bone of the little finger
absent inner and outer dynein arms
stiff elbow
difficulty opening mouth
accessory eyelid
v-shaped frontal hairline
bullet-shaped hallux phalanx
dislocated leg joints
glucose intolerance
dilated fourth ventricle
flat nasal alae
muscle spasms
decreased volume of lip
urachus fistula
raised erythrocyte sedimentation rate
complete cutaneous syndactyly of second and third toes
abnormality of the submandibular region
superior lens subluxation
facial capillary hemangioma
short shinbone
scheuermann disease
premature fusion of end part of digital bone
type 2 cryptotia
gonadal neoplasia
inferior vermis hypoplasia
xanthoma
pectus excavatum of inferior sternum
triangular shaped phalanges of the 5th toe
deformed tarsal bones
spinous keratoses of palms and soles
symphalangism affecting the distal phalanges of the toes
irregular end part of thumb innermost long bone
enlarged epiphysis of the middle phalanx of the 4th toe
absent/small pubic bones
intention tremor
abnormal mitochondrial number
supranuclear gaze paralysis
missing primary maxillary central incisor
asynergia
abnormal upper limb muscles
congenital radial head dislocation
tremor by anatomical site
teleangiectasia of the skin
postlingual sensorineural hearing impairment
increased tone of facial muscles
acromelia of the lower limbs
absent achilles reflex
failure of development of bicuspid
underorbital skin creases
absence of the condylar process of mandible
non-progressive
small epiphysis of the proximal phalanx of the 3rd toe
wide outermost bone of the little toe
amyloidosis of peripheral nerves
missing upper lateral incisor
abnormal ossification involving the femoral head and neck
alternating cross eyes
aplasia/hypoplasia of the fovea
hyperelastic chest skin
serpentine fibula
globe retraction and deviation on abduction
decreased aldosterone production
pancreatic calcifications
congenital microthorax
onychodystrophy
cutaneous telangiectasia
aplasia/hypoplasia of the humerus
small epiphyses of the fingers
parathyroid adenomas
bilateral conductive hearing impairment
glomus vagale paraganglioma
curved outermost bone of the pinkie toe
auras associated with hearing
narrow pelvis bone
pinhole visual acuity 0.7 logmar
wide bregma sutures
limitation of joint mobility
enlarged end part of the middle bone of the index finger
mouth neoplasm
purplish striae
decreased width of face
obsolete mental retardation, in some
hyperprolactinemia
absent nasal septum
triangular shaped bone of 2nd toe
agenesis of permanent upper lateral incisor
aplasia of the cervix
seizures due to hypocalcemia
inflammation of the fascia
cranium stopped growing
biopsy shows villous atrophy
decreased number of primary teeth
agenesis of the maxilla
abnormality of equilibrium
aplasia/hypoplasia of the maxilla
common origin of the right brachiocephalic artery and left common carotid artery
joint contractures of the 4th toe
allodynia of scalp
ataxic gait
synostosis of shoulder joint
hypoalbuminemia
difficulty articulating speech
lytic defect of terminal phalanx of middle finger
increased bone density in long bone of upper arm
aplasia of the 1st metatarsal
malformation of the nostrils
heavy eyebrows
aplasia/hypoplasia of the femur
hyperechogenic pancreas
large beaked nose
death in early childhood
widened subarachnoid spaces
ureteral stenosis
redundant skin
abnormality of olfactory lobe morphology
broken hand bones
abnormality of tensor veli palatini muscle
partial corpus callosum agenesis
peg shaped lower front tooth
severely near sighted
hypoplastic cervical vertebrae
prominent antitragus
impaired renal concentrating ability
irregular epiphysis of the proximal phalanx of the thumb
hyperextensible skin of face
aplasia/hypoplasia of the ribs
deformity of the bones of the nose
bitemporal narrowing
increased fibular diameter
cone-shaped epiphysis of the distal phalanx of the 3rd finger
absent/underdeveloped long bones of hand
humero-scapulo synostosis
upper teeth sticking out forward
supernumerary nares
short middle phalanx of the 5th finger
hypoplasia of the femoral neck
feeding difficulties
symmetrical, oval parietal bone defects
deep palm line
abnormal middle bone of ring finger
aplasia of the 2nd metacarpal
subacute
malignant melanoma
high hairline at back of head
duplicated thumb
flexion contracture of the 2nd toe
triggered by cigarette consumption
complete duplication of big toe bones
aplasia/hypoplasia of proximal toe phalanx
hippocampal dysgenesis
shuffling gait
plantar pits
undescended testis
loss of definition of corticomedullary differentiation
postnatal growth deceleration
aplasia/hypoplasia of the 1st metatarsal
bowing of the long bones
limb contractures
aspiration
peripheral retinal degeneration
slowly progressive disorder
liver dysfunction
curved bones of 3rd toe
abnormal anterior horn cell morphology
bullet-shaped innermost bone of little toe
elbow ankylosis
congenital hearing loss
decreased cervical height
occipital myelomeningocele
perirectal abscess
obsolete papillary cystadenoma of the epididymis
choreoathetosis, intermittent
abnormal umbilical cord blood vessels
swan neck-like deformities of the fingers
abnormality of mitochondrial metabolism
supernumary fontanelle
odontogenic keratocysts of the jaw
mild hearing impairment
central obesity
complete duplication of the innermost bone of the little toe
impacted cerumen
abnormality of the metatarsal bones
absent cochlea
palmoplantar hyperkeratosis
abnormality of iron homeostasis
low urine magnesium levels
decreased sensory nerve conduction velocity
widely spaced baby teeth
abnormality of the heme biosynthetic pathway
flat occiput
metacarpal/metaphyseal cupping
oncology
accelerated maturation of end part of long bone in upper arm
lissencephaly
hypometric horizontal saccades
absent distal phalanx of the 3rd toe
short lingual frenulum
absent collarbone
little cranial sutures
hyperparathyroidism
pruritus on foot
intestinal pseudoobstruction
tumor of the pharynx
red eye
complete duplication of the innermost 2nd toe bone
bilateral wrist contracture
dilated third ventricle
hypotrophic pharynx
ankle clonus
triangular end part of the 4th toe bone
broad outermost wide portion of thighbone
increased size of premolar
overfolded helix
hyperextensible digits
low leukocyte alkaline phosphatase
abnormality of the hypoglossal nerve
vertebral body fusion
malocclusion
upswept frontal hair pattern
abnormality of the gastric mucosa
underdeveloped muscles
missing deciduous mandibular lateral incisor
hyperreninemia
intermittent diarrhea
hip stiffness
shoulder subluxation
cutis marmorata telangiectatica congenita
abnormality of peripheral somatosensory evoked potentials
stippling of the epiphyses of the 5th finger
decreased inflammatory response
fibrous tissue neoplasm
broad innermost bone of the pinky toe
large posterior fontanelle
frequent bacterial infections
liver spots
delay maturation/delayed ossification of the hand
abnormal liver iron level
mixed gonadal dysgenesis
delayed gross motor skills
rotatory nystagmus
high palate
limb undergrowth
abnormality of the thalamus
hypoplastic superior helix
deficiency of zygomaticomaxillary bone complex
entrapment neuropathy
mood swings
abnormality of the shape of calvarium
chronic colitis
vocal cord paresis
osteolytic defects of the middle phalanx of the 2nd toe
progressive capillary hemangioma
proximal/middle symphalangism of 2nd toe
failure to thrive in first year of life
posterior choanal atresia
deep bite
humeral-radial synostosis
deficient in vitamin d
microcytosis
weakness of orbicularis oculi muscle
nonpapillary renal cell carcinoma
mitral incompetence
abnormal c peptide level
trichiasis of eyelid eyelashes
postductal coarctation of the aorta
leber optic atrophy
widened metaphyses
eyes fixed downward
abnormality of the parathyroid morphology
skin nodule
narrow bitemporal diameter
congenital retinal non-attachment
recurrent low blood sugar in infant
neurenteric cyst
adhesion of eyelids
contracture of the metacarpophalangeal joint of the 4th finger
undermineralized calvarium
underdevelopment of facial muscles
iritis
abnormal nk cells
triangular shaped proximal phalanx of the 4th finger
disharmonic maturation of the hand bones
tension-type headache
paroxysmal atrial tachycardia
autoamputation of digits
pseudoepiphyses of the 3rd finger
short proximal phalanx of toe
abnormality of the left ventricular outflow tract
polyarticular arthropathy
ketoacidosis, episodic
jerky ocular pursuit movements
exostoses of the ulna
transient aminoaciduria
abnormality of oral frenula
focal autonomic seizures with altered responsiveness
basal lamina 'onion bulb' formation
duplication of phalanx of hand
lytic defect in index finger phalanges
skin inflammation
spastic quadriparesis
progressive spinal muscular atrophy
clinodactyly of fifth digit
decreased serum estriol
esophageal pouch
hypotrophic eyebrow
ventricular pre-excitation
postnatal growth deficiency
genu valgum
genu valgus
anomaly of lip
delayed ossification of pubic rami
loss of fat tissue in trunk
mandibular prognathism
triangle shaped tongue
bullet-shaped middle phalanx of the 3rd toe
uhl's anomaly
pigmentation of the sclera
vitamin b5 deficiency
seborrhea
omega shaped sella turcica
abnormality of mandibular ramus
panic attack
shortening of metacarpals
rectocele
palpebral fissure narrowing on adduction
mitten deformity
lisch nodules
thin cranial bone
rectilinear intracellular accumulation of autofluorescent lipopigment storage material
ocular depression
missing incisors
irregular end part of the outermost hand bones
wide gap between upper central incisors
asymmetry of the position of the ears
symphalangism affecting the proximal phalanx of the 2nd toe
zollinger-ellison syndrome
overactive thyroid
abnormality of body weight
short lingual frenum
aplastic/hypoplastic tibia
fluctuating splenomegaly
posteriorly placed anus
small end part of the innermost bone of the little toe
precocious menopause
aplasia/hypoplasia of the nipples
angiitis
increased bone density of end part of the middle bone of pinky finger
vaginal neoplasia
vasculitis
absent/underdeveloped pelvis
spinal dysplasia
absent/small skeletal muscles
facial clefts
abnormality of the synovia
short forearms
prominent nasal root
stercoraceous vomiting
absence of permanent mandibular central incisor
dizzy spell
open operculum
underdeveloped frontal sinuses
long rib cage
congenital hypothyroidism
hoarse voice
swollen finger
distal ulnar epiphyseal calcifications
abnormality of cardiac conduction
enlargment of the facial bones
no eyeball
bullet-shaped middle phalanx of the 2nd finger
abnormality of the sternum
cleft of alveolar process
broad big toe
early onset of puberty
nonnuclear polymorphic congenital cataract
rudimentary postaxial polydactyly of hands
synostosis of joints
gallbladder duplication
hypoplastic fifth finger middle phalanx
enlarged end part of the innermost bone of pinky finger
reduced amplitude of dark-adapted bright flash electroretinogram a-wave
abnormality of the shinbone
obsolete decreased retinal pigmentation with dispersion
auricular tag
small triceps
abnormal lower-limb motor evoked potentials
age-related cortical cataract
severe failure to thrive
peripheral axonal atrophy
excessive sweating of hands
short proximal phalanx of the second toe
abnormality of the intrinsic pathway
abnormality of the pinky finger bone
irregular end part of the innermost bone of the pinky toe
postaxial polydactyly of hands
interrupted aortic arch
bullet-shaped middle phalanges of the toes
synophrys
gallbladder dysfunction
abnormal oral glucose tolerance
maxillary micrognathia
absent/underdeveloped outermost index finger bone
abnormal bone collagen fibril morphology
thrombocythaemia
polycystic kidney disease
impaired touch localisation
cervical agenesis
hypertrophy of supraorbital ridge
microcephaly present at birth
hyperostosis of the internal surface of the frontal bone
bifid nasal bridge
cleft of chin
duodenal stenosis
congenital large cranium
dilatation of the descending thoracic aorta
cleft hard palate
underdeveloped outermost segments of shoulder blade
increased serum prostaglandin e2
fibular polydactyly
high urine uracil levels
hydrops fetalis
curvature of index finger
juvenile posterior subcapsular lenticular opacities
decreased size of eyelid
aplasia/hypoplasia of the 5th metacarpal
fused teeth
calcaneovalgus deformity
abnormal circulating androgen level
fusion of midcervical facet joints
delayed proximal femoral epiphyseal ossification
hypotrophic tooth germ
pseudoepiphyses of the toes
fecal incontinence
underdevelopment of malar bone
self-injurious behaviors
hypoplasia of septum of nose
proximal femoral focal deficiency
decreased female sex drive
verbal tics
abnormality of the outer white part of eyeball
epihyseal plate abnormality of the upper limbs
abnormality of infra-orbital nerve
cleft lower eyelid
increased circulating luteinizing hormone level
abnormality of the occipital bone
gait disturbance
elevated cerebrospinal fluid protein
hypermetropia
abnormality of musculature of pharynx
contractures involving the toes
wide palpebral fissure
type i diabetes mellitus
creatinine levels abnormal
osteolytic defects of the proximal phalanx of the 2nd toe
day blindness
absent/underdeveloped macula
abnormal innermost 4th toe bone
patchy sclerosis of the phalanges of the 5th finger
armd
hypoplastic areolae
prominent laugh lines
increased size of permanent maxillary central incisor
modic type ii vertebral endplate changes
leukopenia
elevated c-reactive protein level
increased methionine in blood
underdeveloped fingernail of little finger
abnormality of the spinal dura mater
nail hypoplasia
red green color blindness
secretory adrenal adenoma
absence of the intermaxillary bone
abnormality of the tricuspid valve
atelectasis of paranasal sinus
flame-shaped retinal haemorrhage
wide alveolar margins
corticotropin-secreting pituitary adenoma
rectilinear profiles ultrastructurally
congenital megaloureter
enlarged premolar
eyelid myoclonus
portal fibrosis
abnormal shape of the opening between the eyelids
missing lower front milk tooth
nanophthalmos
duplication of the innermost bone of the pinky toe
abnormal middle ear reflexes
aplasia of the gallbladder
partial duplication of thumb phalanx
orthostatic tachycardia
duplication of the bones of the 2nd toe
short chin
overgrowth of craniofacial bones
muscle weakness between ribs
absent ovary
decreased numbers of circulating t cells
fetal akinesia sequence
bone infection
hypoplastic alveolar bone
triangular shaped middle phalanx of the 2nd finger
aortic aneurysm
short second toe
absent/small innermost thumb bone
failure to thrive secondary to recurrent infections
plantar flexion contractures
patchy sclerosis of the phalanges of the thumb
osteosclerosis of the skull base
seizures, tonic-clonic
ocular albinism
weakness of both sides of the face
hypoplastic palmar creases
triangular shaped thumb bone
long chin
bracket epiphyses of the middle phalanges of the hand
hand muscle degeneration
hypoautofluorescent macular lesion
cleft ribs
echophrasia
abnormal eye motility
abnormality of respiratory circulation
t-cell lymphoma
abnormality of the 4th finger
absent photopic (cone) responses on erg
palmoplantar hyperhidrosis
absent/underdeveloped 2nd long bone of hand
increased serum ferritin level
neurolemmoma
increased chromosomal breakage rate
epiphyseal dysplasia
scapular muscle atrophy
vulval varicose vein
typical absence seizures
abnormality of retinal pigmentation
cardiac shunt
wizened face
hyperplasia of upper jaw
small abnormally formed scapula
increased ratio of vwf propeptide to vwf antigen
stippling of the epiphyses of the 2nd finger
lumbar scoliosis
hypervolemia
camptodactyly of the 4th finger
aplasia of the eighth cranial nerve
thin shaft of long bone
deformity of the nasal skeleton
retromicrognathia
axillary pterygia
paresthesias
intercalary polydactyly
impacted tooth
neonatal wrinkled skin of hands and feet
shortening of all middle phalanges of the fingers
slow decrease in visual acuity
moderate sensorineural hearing impairment
abnormality of the epiphyses of the hallux
tubular proteinuria
triangular epiphysis of the distal phalanx of the 4th finger
peripheral pulmonary stenosis
sclerotic radial epiphyses
absent/underdeveloped big toe
increased intracellular sodium
acro-osteolysis of index finger
valvular heart disease
abnormality of the sublingual glands
mild growth deficiency
dyskinesis
distal vibratory impairment of the lower limbs
postnatal onset of mild growth retardation
absence of deciduous mandibular lateral incisor
enlarged epiphysis of the distal phalanx of the 5th finger
partial duplication of the middle phalanges of the hand
protruding coccyx
anxiety
left ventricular abnormality
increased vertical dimension of face
structural renal anomalies
partial/complete duplication of the distal phalanges of the toes
increased deep tendon reflexes
widened long bone metaphyses
stercoral ulcer
fused innermost bone of little finger with 5th long bone of hand
underdeveloped retina
stapes ankylosis
abnormal sweat electrolytes
oral leukoplasia
fluorescein leakage
absent hallux
premature closure of fontanelles
thickened skin
partial duplication of the distal phalanx of the 5th finger
bad breath
duplicated toe bone
gross hematuria
multiple glomerular cysts
decreased volume of cerebral cortex
chronic atrial fibrillation
hemivertebra
obsolete hypertrophic labia minora
agenesis of bridge of nose
ectopia vesicae
lethal short-limbed short stature
malignant gi tract tumors
fragmentation of end part of the innermost bone of the pinky finger
duplicated hallux
abnormality of fat tissue
abnormality of dentin
positional anterior plagiocephaly
corners of eye widely separated
hypoplastic nasal tip
ligamentous laxity
dilated nostril
complete breech presentation
congenital large head
flattened femoral head
abnormality of the area between the eyebrows
hypoplastic 1st metacarpal
acute monoblastic leukemia
underdeveloped brows
congenital hypertrophy of left ventricle
osteolytic defects of the outermost bone of the 3rd toe
micropenis
abnormality of upper eyelashes
increased level of paf
muscular cardiac diverticulum
abnormal shape of shaft of long bone
atheroeruptive xanthoma
triangular shaped oral aperture
absence of the outermost bone of the thumb
broad innermost pinky finger bone
decreased mannosylation of n-linked protein glycosylation
triggered by sound
peripheral edema of lower extremity
emg: neurogenic changes
maldevelopment of radioulnar joint
neurophysiologic abnormality
epiphyseal ossification delay
decreased motor ncv
clinodactyly of the 3rd finger
abnormally large tongue
abnormality of the marrow cavity of the long bones
progressive bilateral sensorineural hearing loss
haemangioblastoma
hypoplastic ischium
hyperextensible hand joints
obsolete hypoplastic phalanges of the ring finger
partial dislocation of middle finger joints
enlarged end part of the innermost hand bones
thunderclap headache
triangular end part of the innermost bone of ring finger
breathing dysregulation
abnormality of the end part of the calf bone
amegakaryocytic thrombocytopenia
anomaly of the neck
swelling of upper eyelid
partial duplication of 2nd toe bone
congenital portosystemic venous shunt
pus-filled lesion
calcium oxalate nephrolithiasis
absent forearms
absent lining around of left side of heart
absent electroretinogram
missing scaphoid bone
abnormality of position of incisors
brachydactyly syndrome
angioid streaks
hepatic calcification
plantar hyperkeratosis
partial vaginal septum
multifocal
tibialis atrophy
biventricular hypertrophy
short proximal phalanx of the fourth finger
delta-shaped epiphysis of the proximal phalanx of the 4th finger
sclerosis of the proximal phalanx of the 4th toe
abnormal muscle fiber valosin-containing protein
excessive growth of craniofacial bones
absent/small upper limb muscles
multiple lineage myelodysplasia
enlargement of calvarial bones
low urine chloride levels
small end part of the outermost bone of the little toe
single midline maxillary incisor
inflammation of the mouth
abnormality of the midnasal cavity
fine hair texture
abnormality of the nasal root
malar rash
hypoplastic/absent phalanges
wide mandible
milk allergy
increased serum parathyroid hormone
duplication of the proximal phalanx of the 5th toe
abnormality of fibrinolysis
puffiness of upper eyelid
missing some teeth
decreased sweat glands
first metacarpal hypoplasia
recurrent hypoglycaemia
doubly committed ventricular septal defect
small end part of finger bones
emg: decremental response of cmap to repetitive nerve stimulation
pericentral scotoma
reduced vitamin b6 levels
type 4 truncus arteriosus
generalised tonic-clonic seizures
aplasia/hypoplasia of the cerebrum
coronary artherosclerosis
rhabdomyoma
hypermelanotic macule
tapered finger bone
diaphyseal osteosclerosis
epidermal nevus
irregular end part of the pinkie toe bone
underdeveloped shoulder muscle
small first rib
symphalangism of the proximal phalanx of the 5th finger with the 5th metatcarpal
absent cellular immunity
left
weakness due to upper motor neuron dysfunction
pericentral retinitis pigmentosa
pineal gland calcification
cystic lung disease
poor visual behavior for age
small toe
abnormality of the nostrils
repeated pneumothorax
complete duplication of the distal phalanx of the 5th finger
triangular shaped outermost bone of the toes
small epiphysis of the proximal phalanx of the thumb
abnormality of granulocytes
cone-shaped epiphyses of the distal phalanges of the hand
abnormal muscle fiber alpha sarcoglycan
abnormality of the palm
short middle bone of finger
increased levels of igg
profound depletion of t4+ lymphocytes
increased levels of iga
central apnea
generalized anhidrosis
increased levels of igm
thick red part of the upper lip
abnormal dark-adapted electroretinogram
long qt syndrome
thoracic hemivertebrae
lymphocytopenia
acute disseminated intravascular coagulation
retinal vasculitis
neuronal and mixed neuronal-glial tumor
underdeveloped clit
upturned nares
thickened ears
obsolete tracheal neoplasm
dentinogenesis imperfecta of primary and permanent teeth
renal tcc
small end part of the outermost bone of the 4th toe
partial duplication of the proximal phalanx of the third toe
atrophodermia vermiculata
linear arrays of macular hyperkeratoses in flexural areas
acheiria
low muscle tone in trunk
temporomandibular joint clicking sound
enlarged epiphyses of the 2nd toe
hypoplastic or absent corpus callosum
smell defect
short phalanx of the fourth toe
extrapulmonary sequestrum
venal cortical cysts
increased calvarial thickness
squaring of iliac bones
thickened but nonswollen eyelids
absence of secondary sex characteristics
cone-shaped epiphysis of the distal phalanx of the 4th toe
cryoglobulinemia
oval facial shape
thyroid dysplasia
metabolic alkalosis
phonic tics
malformation of the hepatic ductal plate
absence of upper premolar
medullar adrenal neoplasia
pancreatic aplasia
rib flaring
esophageal atresia
abnormality of muscle size
hyperkeratosis, palmoplantar, focal friction-related
fusion of the terminal and middle phalanges of the 5th finger
anal margin melanoma
genital functional abnormality
failure of development of cartilage of nose
blindness
hyperplastic islets of langerhans
elevated right atrial pressure
ameliorated by pregnancy
growth hormone deficiency
slanting of the opening between the eyelids
large, carp-shaped mouth
skeletal muscle lipid accumulation
lester's sign
lymphoid interstitial pneumonia
elbow limited extension
right ventricular dilatation
pyriform aperture stenosis
bullet-shaped innermost bone of 2nd toe
tooth mass excess
noncompaction of the ventricular myocardium
decreased sialylation of o-linked protein glycosylation
multiple spontaneous fractures
lacy appearance of iliac crest
thick lips
partial beta-eeg
abnormal craniofacial muscle tone
malformation of the periauricular region
abnormality of end part of thumb innermost long bone
static ophthalmoparesis
uneven increase in bone density in the outermost bone of the ring finger
enlarged end part of the outermost bone of the 2nd toe
abnormality of circulating beta2-m level
fatigable weakness of limb muscles
multisutural craniosynostosis
hypoplastic glenoid fossa
nonprogressive muscular atrophy
abnormality of the line of schwalbe
meromelia
externally rotated hips
hamstring contractures
abnormality of the xiphoid process
abnormality of keratinization
choreatic disease
mild
prominent lumbar lordosis
hyperextensible skin
trichiasis
cyst of the ductus choledochus
nonopposable triphalangeal thumb
carotid artery tortuosity
abnormality of nail color
thalamic edema
abnormality of external features of the abdomen
irregular epiphysis of the proximal phalanx of the 5th toe
reduced fetal movement
flat posterior fossa
aplasia/hypoplasia affecting the uvea
true hermaphroditism
absent interphalangeal creases
perianal abscess
agenesis of central incisor
redundant neck skin
decreased methylcobalamin
increased vertical width of eyebrow
hypobetalipoproteinemia
slowed horizontal saccades
absent/underdeveloped outermost 2nd toe bone
abnormality of the vasculature
abnormal synaptic transmission
lumbar hemivertebrae
congenital fibrosis of the extraocular muscles
very late eruption of adult teeth
abnormality of the cerebral ventricles
idiopathic gingival hyperplasia
thoracic ectopia cordis
cognitive defects
anomaly of facial skeleton
abnormal scrotal rugation
frequent upper respiratory tract infections
placental thromboembolism
large pinnae
mottled pigmentation
weakness of one side of the face
ectopic cilia of eyelid
irregular epiphyses
short innermost bone of pinky toe
facial myokymia
cone-shaped epiphyses of the 4th toe
bilateral kidney degeneration
bracket shaped end part of the middle bone of the pinky finger
abnormality of the astrocytes
face weakness
partial duplication of the middle phalanx of the 4th finger
frontal open bite
enlarged sella turcica
axial hypotonia
hardening of wide portion of long bone of upper arm
inflammation of the esophagus
peritoneal abscess
osteochondromas
symphalangism of the middle and proximal phalanges of the 5th toe
abnormality of the metopic suture
esophageal diverticulum
retinopathy
generalized ichthyosis
chaotic rapid conjugate ocular movements
vitreitis
scanning speech
iron accumulation in substantia nigra
cone-shaped epiphyses of the phalanges of the hand
no secondary sexual characteristics at puberty
deformed auricles
intrauterine retardation
comma-shaped carpal bones
amelia
neovascularization of the iris
mirror image duplication of digits
gingival cleft
thoracic hypoplasia
enlarged end part of the outermost bone of the little toe
fluctuations in consciousness
osteolysis involving bones of the feet
abnormal ventriculo-arterial connection
increased bone density of end part of the innermost bone of the index finger
abnormality of the lymphatic system
duplication of innermost 2nd toe bone
abnormality of the epiphyses of the proximal phalanges of the hand
increased density of long bone diaphyses
neoplasm of the pancreas
reduced vital capacity
decreased qrs voltage
long fibula
fifth finger clinodactyly
groove in skin under the eye
limitation of neck motion
spasticity
bullet-shaped middle phalanx of the 5th toe
euthyroid hyperthyroxinemia
fibrous cardiac diverticulum
abnormally shaped ears
renal tubular acidosis, type ii
absent diaphragm
anteriorly displaced urethral meatus
erythrocyte cylindruria
aplasia/hypoplasia of the clitoris
triangular epiphysis of the proximal phalanx of the 2nd finger
partial duplication of the outermost bone of the 3rd toe
corpus callosum abnormality
pustulosis palmaris et plantaris
abnormality of muscle of facial expression
endocardial fibroelastosis
small head of thigh bone
expanded humeral metaphyses
extensor plantar response
urinary bladder inflammation
supernumary dentition
delayed bone age before puberty
abnormal shape of thyroid gland
congruous homonymous hemianopia
abnormality of the internal auditory canal
speckled calcifications in the end part of the outermost thumb bone
increased circulating low-density lipoprotein cholesterol
absent index finger phalanges
enlarged epiphysis of the distal phalanx of the 4th finger
finger hyperphalangy
tragus, bifid
speckled calcifications in the end part of the first long bone of hand
uneven increase in bone density in the middle bone of the middle finger
atrial cardiomyopathy
early menopause
ectrodactyly of the hand
cervical myelopathy
irregular dental spacing
pollakisuria
small left heart atrium
cervical insufficiency
nail overcurvature
large premaxilla
achalasia of the esophagus
retrognathia of lower jaw
cramping of facial muscles
rachitic rosary
palate telangiectases
conductive deafness
heavy supraorbital ridge
missing adult teeth
hypochloremic metabolic alkalosis
poorly mineralized skull
platelet-activating factor acetylhydrolase deficiency
allantoic cyst
neoplasm of the adenohypophysis
absent fat below the skin
decreased taste
abnormality of the epiphyses of the 4th toe
blebs of oral mucosa
delayed ossification of the trapezium
fragmentation of the end part of the 1st long bone of foot
radioulnar dislocation
missing upper premolar
retinal crystals
criss-cross atrioventricular valves
proximal tibial hypoplasia
porencephaly
emg: decrement at repetitive stimulation
reduced circulating beta-2-microglobulin level
ureteric reflux
detailed epiphyseal ossification
abnormality of inferior alveolar nerve
absent clavicles
abnormal dark-adapted bright flash electroretinogram
late closure of anterior fontanelle
abnormality of adrenal physiology
peripheral sensory neuropathy
failure of development of second permanent molar
adrenal medullary hypoplasia
abnormality of chorioretinal pigmentation
fibrotic testes
pulmonary insufficiency
separated superior central incisors
quotidian
missing upper central incisor
enlarged eyeball
generalized seizures
crooked face
flattened vertebrae
abnormal germ cell morphology
pale eyebrow
mesocardia
bilateral congenital cataracts
prolonged somatosensory evoked potentials
enlarged lateral sulcus
hypoplastic femoral neck
partial/complete duplication of the middle bones of the index finger
hypoplastic middle phalanx of the 5th finger
failure to thrive
onset in early adulthood
fetal ascites
superior-inferior ventricles without criss-cross atrioventricular valves
sleep disturbances
mature cystic ovarian teratoma
small cervical vertebrae
uneven increase in bone density in pinky finger bone
eeg with occipital focal spike waves
sprengel anomaly
delayed fontanelle closure
obsolete abnormality of common carotid artery plus branches
absent/small optic nerve
postauricular acrochordon
abnormality of the tongue
decreased projection of midface
prominent protruding coccyx
short 3rd metacarpal
decreased sialylation of n-linked protein glycosylation
abnormality of soft palate muscles
diaphyseal abnormality of the upper limbs
elevated urinary vanillylmandelic acid
paranasal fullness
bronchopulmonary sequestration
parkinsonism with favorable response to dopaminergic medication
renal pelvic carcinoma
abnormality of bony orbit of skull
arrhinencephaly
broad distal phalanx of the hallux
hypoplasia of corpus callosum
limb-girdle muscle weakness
low blood sugar when fasting
growth delay
decreased height of palpebral fissure
ventricular aneurysm
velvety skin
renotubular dysgenesis
abnormality of lymphocyte number
hip flexor weakness
absent the eighth cranial nerve
stippled epiphyses
hypo/aplastic vermis
right aortic arch with left descending aorta and left ductus arteriosus
deformity of the lower jaw bone
bicarbonaturia
nrem parasomnia
fragmentation of end part of finger bones
small end part of the pinkie toe bone
abnormality of the orbital region
complete duplication of the middle phalanx of the 5th toe
enamel dysplasia
slack jawed appearance
diminished deep tendon reflexes
limited extension at elbows
cleft mandible
t-wave alternans
drooping upper lip
increased size of skull
involuntary facial contraction
obsolete generalized osteoporosis with pathologic fractures
absent bladder
limb duplication
irregular end part of the outermost bone of the index finger
small miniature endplate currents
retinal neovascularization
nasal tumor
ridging of metopic suture
enlarged epiphysis of the proximal phalanx of the 4th toe
unconjugated hyperbilirubinemia
skin infections
decreased electroretinogram
abnormal shape of end part of lower limb end bone
dysfunction of lateral corticospinal tracts
joint contractures of the thumb
celiac artery aneurysm
synovitis
increased lymphocyte apoptosis
decreased bone mineral density z score
modic type vertebral endplate changes
triangular thumb phalanges
intrauterine growth retardation
abnormality of the thoracic spine
hypoplastic pelvic bones
rhomboid or triangular shaped pinkie finger bone
short tooth roots
abnormality of pyrimidine metabolism
inelastic skin
abnormality of t cell physiology
muscle hypotrophy
c3 nephritic factor positivity
progressive external ophthalmoplegia
increased length of the tibia
angioectasias of the lip
hyperpigmented fundus
stippling of the epiphyses of the 5th toe
irregular ossification of the humeral epiphyses
thickened nuchal skin fold
webbed skin of 2nd-3rd toes
poliosis of anterior hair
pulmonary arterial hypertension
broad ulna
decreased horizontal dimension of face
microtia, first degree
impaired touch sensation
type i transferrin isoform profile
obsolete hypermenorrhea
spider veins of nasal mucous membrane
deliberate self-harm
fibular aplasia/hypoplasia
sparse lower eyelashes
flared eyebrows
pseudoepiphysis of the 5th metacarpal
sclerosis of the phalanges of the 3rd finger
lipomeningocele
retroperitoneal fibrosis
progressive hypotrichosis
partial duplication of outermost pinkie finger bone
reduced fertility in females
arteriovenous fistulas of celiac and mesenteric vessels
frequent giardia lamblia infestation
abnormality of the umbilical cord
generalized spacing of primary teeth
hypoplastic iris stroma
recurrent systemic pyogenic infections
patchy sclerosis of the proximal phalanx of the 2nd finger
hydrops of the placenta
generalized hypoplasia of dental enamel
foot monodactyly
absent/underdeveloped nipples
osteosclerosis of the clavicles
spastic walk
coma, hypoglycemic
dehydration
deformity of the zygomatic bone
triangular epiphysis of the proximal phalanx of the 3rd finger
interrupted inferior vena cava with azygous continuation
atypical neurofibromatosis
cutaneous anergy
chromaffin tumors
specific anti-polysaccharide antibody deficiency
port-wine stain on forehead
cerebral hemorrhage
stippled calcification of the shoulder
low blood oxygen level
cleft in cranial base
reduced muscle fiber alpha dystroglycan
protruding tongue
unilateral microphthalmos
craniofacial disproportion
abnormal diaphysis morphology
transposition of the great arteries
broad phalanges of the 2nd toe
spondyloepiphyseal dysplasia
hypotrophic nasal bone
diastema between upper incisors
congenital stationary night blindness with abnormal fundus
shortening of all outermost bones of the fingers
decreased fat tissue
small feet
stippled chondral calcification
peripheral hypomyelination
malformed ears
aplasia/hypoplasia of the nasal bone
electrical alternans
dyschromatopsia
5th finger camptodactyly
short metacarpal bones
naris, broad
abnormality of the epiphysis of the proximal phalanx of the 3rd finger
claustrophobia
calcinosis
moderate
apneic episodes precipitated by illness, fatigue, stress
parathyroid dysgenesis
deformational anterior plagiocephaly
neoplasm of the neurohypophysis
decreased circulating high-density lipoprotein cholesterol
skin tag on the posterior cheek
dysplastic iliac wings
short fetal thigh bone length
notch of gum ridge
ethmoidal encephalocele
increased transverse dimension of face
abnormality of the end part of the innermost bone of the ring finger
stenosis of the eustachian tube
hypoplastic carpal bones
interrupted aortic arch type b
interrupted aortic arch type c
interrupted aortic arch type a
alternating esotropia
acromegalic growth
absent outermost index finger bone
abnormality of lower limb epiphysis morphology
hypoossification of skull
hepatic vascular malformations
palmomental reflex
type 1 truncus arteriosus
full cheeks
pronounced cheekbone
maculopapular exanthema
trembling eye lens
absent/underdeveloped shoulder blade
triangular shaped bones of big toe
reduced 4-hydroxyphenylpyruvate dioxygenase activity
unilateral vocal cord paresis
nasal obstruction
asymmetric facies
nasal blockage
single damaged nerve
cessation of head growth
cat-like cry
short distal phalanx of the fourth finger
triangular epiphysis of the proximal phalanx of the 3rd toe
philtrum, narrow
reduced cerebrospinal fluid 5-methyltetrahydrofolate concentration
weak frontalis muscle
bracket shaped end part of the outermost bone of the 4th toe
hypercalcemia
anaphylaxis
premature sudden cardiac death
abnormality of the lunate bone
high mandibular plane angle
hypoplasia of tooth enamel
partial/complete duplication of the middle phalanx of the 4th finger
decreased to absent deep tendon reflexes
reduced prothrombin consumption
thick, flared eyebrows
elevated alkaline phosphatase
triangular epiphysis of the middle phalanx of the 5th finger
genitourinary tract malformation
tricuspid insufficiency
symphalangism of the 5th finger
posterior wedging of vertebral bodies
premature separation of centromeric heterochromatin
complete duplication of the innermost bones of the hand
elevated blood lysine
hypoplasia of face
pterygium cubitale
limb joint contracture
narrow face
abnormal urine citrate concentration
complete duplication of the middle phalanx of the fifth toe
hypoplastic 2nd metacarpal
sclerosis of the middle phalanges of the hand
eye tumor
linear hyperpigmentation
fused outermost bones of the pinkie toe
medial flaring of the eyebrow
abnormality of ganglion of peripheral nervous system
increased serum calcitriol
decreased fetal activity
increased number of elastic fibers in the dermis
cone-shaped epiphysis of the middle phalanx of the 4th toe
hypernatremic dehydration
increased bone density of end part of the little toe bone
cone-shaped epiphyses of the proximal phalanges of the hand
absent/underdeveloped external ear
absent/small breasts
legg-calve-perthes syndrome
trident hand
aplasia of the toes
abnormal mitochondria in muscle
uneven increase in bone density in the middle bone of the little toe
abnormal paracentral response of multifocal electroretinogram
hair loss
enlarged end part of the outermost bone of the 3rd toe
triggered by carbohydrate ingestion
abnormality of the distal phalanx of the 3rd finger
defective lung lobation
patchy sclerosis of the proximal phalanges of the toes
sparse subcutaneous fat
elevated urinary norepinephrine
short innermost bone of the ring finger
bitemporal skull narrowing
merkel cell skin cancer
triangular proximal thumb phalanx
short distal phalanx of the 4th toe
reduced tendon reflexes
abnormality of pulmonary situs
hypoplasia or absence of the corpus callosum
hypokaluria
mitochondrial pcc defect
leukoencephalopathy
biventricular noncompaction cardiomyopathy
retinal hemorrhage
elevated creatine kinase
bifid uterus
chin myoclonus
aplasia/hypoplasia of the optic tract
gingivostomatitis
abnormality of the spleen
dilated superficial abdominal veins
flat posterior head
curved middle phalanx of the 2nd finger
abnormality of molar morphology
increased activity of mitochondrial respiratory chain
mandibular hyporeflexia
acute emergence over days
muscular ventricular septal defect
transverse earlobe creases
aortic stenosis due to calcifications
increased bone density in little finger bone
joint contractures of the 5th toe
bullet-shaped distal phalanx of the hallux
stellate iris
neoplasm of the ureter
abnormality of tooth pulp
abnormal middle index finger bone
abnormality of the end part of the outermost bone of the 2nd toe
fibular deviation of toes
delayed fine motor development
cerebellar ataxia
hypoplastic frontal sinuses
behavioral disorders
abnormality of the humeral epiphyses
abnormal light-adapted flicker electroretinogram
increased red cell osmotic resistance
missing cupid's bow
enlarged epiphysis of the distal phalanx of the thumb
kelosomia
obsolete decreased circulating aldosterone level
distended abdomen
ankle swelling
limited area of gum disease
sharp
shallow eye sockets
hyponatremia
abnormality of the innermost bone of the 2nd toe
gerontoxon
early dental caries
underdeveloped female external genitalia
bronchiolitis obliterans
upbeat nystagmus
finger pain
ochronosis
eyelid folded out
increased urinary o-linked sialopeptides
uveal ectropion
thyroid cancer, nonmedullary
abnormality of the amniotic fluid
premature arthritis
paraplegia/paraparesis
supranuclear gaze palsy
hand ectrodactyly
wormian bones
imperforate atrioventricular valve
patchy sclerosis of the proximal phalanx of the 4th toe
nasal allergies
pseudoepiphyses of the thumb
abnormal anatomic location of the heart
carpal fusion
obliterated fontanelles
underdeveloped right heart
slow-growing scalp hair
small stature
ectopic ossification in tendon tissue
abnormality of hand cortical bone
epiphyseal abnormality of the proximal phalanx of the 2nd finger
verrucous papule
abnormality of the coccyx
persistent ductus arteriosus
micronodular cirrhosis
supernumary hair whorl
abnormality of the ovary
limited elbow extension
abnormality of central retinal artery
caudal appendage
curved outermost bone of the 2nd toe
juvenile nephronophthisis
broad 1st metacarpal
dystrophic toenail
c8 deficiency
inappropriate behavior
absence of fat below the skin over entire body except buttocks, hips, and thighs
undermodeled humerus
hyperglycinuria
focal dermal aplasia/hypoplasia
speckled calcifications in the end part of the middle hand bones
aplasia of the humerus
total anomalous pulmonary venous drainage
underdeveloped instestine
b cell lymphoma
reduced electroretinogram
embryonal rhabdomyosarcoma
large intestinal polyposis
intrahepatic biliary dysgenesis
central pulverulent cataract
ivory epiphysis of the proximal phalanx of the 4th toe
enlarged clit
abnormal iron deposition in mitochondria
delayed eruption
intestinal malrotation
imperforate tricuspid valve
short 2nd toe
smooth surface of tongue
neoplasia of the gallbladder
increased intercanthal distance
sulfite oxidase deficiency
decreased size of zygomatic bone
apnoea
bowed limbs due to multiple fractures
beaten metal macular appearance
absent/small fallopian tube
patchy sclerosis of the proximal phalanx of the 3rd toe
thyroid hyperplasia
abnormality of the bridge of the nose
oliguria
fragmentation of the epiphysis of the middle phalanx of the 5th toe
neurofibrillary tangles
short proximal phalanx of thumb
abnormality of the anterior pituitary
abnormal homeostasis
oppositional defiant disorder
partial duplication of the proximal phalanx of the 3rd toe
gingival fibroma
increased circulating gonadotropin level
abnormal platelet dense granule secretion
sclerosis of the distal phalanx of the 3rd finger
neurofibrillary tangles composed of disordered microtubules in neurons
inflammation of sharpey fibers
gastric varices
renal sarcoma
increased plasma triglycerides
increased serum bile acid concentration
midline cleft palate
congenital small skull
atherosclerosis of the aorta
involuntary closure of eyelid
plasmacytosis
severe b lymphocytopenia
skeletal muscle calcinosis
delayed eruption of teeth
delayed opacification of the epiphyses
bracket epiphysis of the proximal phalanx of the 4th toe
generalized muscle weakness
premacular fibrosis
abnormal t-wave
phosphoethanolaminuria
periventricular white matter hypodensities
pericardial mesothelioma
respiratory insufficiency due to defective ciliary clearance
abnormal visual-evoked potentials
broad shaft of long bone in upper arm
hypoplastic areola
abnormally shaped kidney
dysplastic testes
incomprehensible speech
small chin
fragile nails
autosomal dominant inheritance with maternal imprinting
asymmetry of the nares
prolactin deficiency
nail ridging
pressure ulcer
uneven increase in bone density in the middle bone of the little finger
small end part of the middle bone of the middle finger
large, prominent ears
long toe
increased csf lactate
skin pits
extreme light sensitivity
absent/small thumb bones
chronic pancreas inflammation
unilateral lambdoid suture synostosis
bullet-shaped distal toe phalanx
failed liver development
congestive cardiomyopathy
inappropriate sinus tachycardia
muscular dystrophy, congenital
absent outermost bone of the 3rd toe
trident deformity
abnormal breath sound
symphalangism affecting the distal phalanx of the 3rd toe
ethylmalonic aciduria
symphalangism affecting the phalanges of the 3rd toe
intracranial calcification
recurrent infections due to aspiration
accessory proximal metacarpal ossification centers
absent-hypoplastic fibulae
hemangiomatosis
triggered by salt ingestion
versive seizures
abnormality of the neostriatum
bifid clitoris
hypertrophic urinary bladder
autism with high cognitive abilities
old-aged sensorineural hearing impairment
neurodegenerative disease
generalized overgrowth
malformation of jaw joint
cerebral vein thrombosis
myelomeningocele
dysarthria
erysipelas
antihelix, inferior crus, prominent
pulmonary sequestration
absent/underdeveloped big toe bone
enlarged end part of the innermost bone of the 3rd toe
headaches
primary amenorrhea
retinal hypopigmentation
respiratory abnormality
brachial plexus neuropathy
aortic valve calcification
abnormality of venous physiology
mitochondrial abnormalities
increased height of nose
amniotic constriction rings of digits
clubbing of feet
absent/underdeveloped thumb bones
wide outermost bone of the toe
retinal perforation
upper extremity joint dislocation
overgrowth of skull bones
parietal hypometabolism in fdg pet
palmar and plantar keratoderma
soft skin
calvarial defect
triangular end part of the outermost bone of the index finger
abnormality of the ring finger
premaxillary underdevelopment
small nostrils
deformity of the jaw joint
telangiectasia of the lips
large elbow
sparse scalp, axillary, and pubic hair
ivory epiphysis of the middle phalanx of the 4th finger
full thickness defect of the lower eyelid
under breathing
widely spaced toes
complete atrioventricular septal defect
recurrent mycobacterial infections
high urine cortisol level
inward turning cross eyed
extension of hair growth on temples to lateral eyebrow
metaphyseal splaying
spontaneous coronary artery dissection
partial seizures
speckled calcifications in end part of the index finger
teeth grinding
small end part of the outermost hand bones
speckled calcifications in the end part of the innermost bone of the pinky toe
absent molars
hypocortisolism
hyperactive patellar reflex
sleep myoclonus
atrophy of alveolar ridges
proximal symphalangism of hands
abnormality of bicuspid morphology
osteoarthritis
achilles tendonitis
chin dimple
absent/hypoplastic metacarpals
unilateral absence of pectoralis major muscle
impaired glucose tolerance
widened cerebral subarachnoid space
hyperventilation
stippled ossification of the humeral epiphyses
coronary artery disease
supraventricular tachycardia with a manifest accessory pathway on the right free wall
osteopoikilosis
small tongue
low serum testosterone level
decreased length of neck
renal magnesium wasting
aspartylglucosaminuria
abnormality of urine catecholamine concentration
decreased lung function
stretchable face skin
displacement of the pinkie toe
abnormality of angular artery
abnormal large intestine physiology
small hypophyseal fossa
prominent superficial blood vessels
hypertonicity
poor gross motor coordination
tubulointerstitial nephritis
twisted fallopian tube
anterior embryotoxon
diminished or absent tendon reflexes
enlarged cisterna magna
full lips
granular osmiophilic deposits (grod) in cells
left bundle branch block
thin hypoplastic alae nasi
decrease in size of one side of the face
generalised abnormality of skin
jaw joint clicking sound
ketoacidosis
fibrotic muscularis propria
proptosis
fused forearm bones
triangular shaped phalanges of the 4th finger
dental malocclusion
coma caused by low blood sugar
d-2-hydroxyglutaric acidemia
complete duplication of the proximal phalanx of the 2nd finger
shortened qt interval
neoplasm of the male external genitalia
abnormality of tooth color
underdeveloped kidneys
abnormality of middle 4th toe bone
night blindness, stationary
small tip of nose
tremors
flattened femoral heads
adult-onset night blindness
large prominent ears
fifth finger symphalangism
soft-tissue ossification around the shoulders
decreased reactivity to skin test antigens
urine concentration defect
fragmented end part of bone
increased phosphoribosylpyrophosphate synthetase
abnormal fucosylation of o-linked protein glycosylation
heart attack
short nose
topoisomerase (dna) i antibody positivity
2-5 toe syndactyly
pulmonic stenosis
absent uvula
enuresis nocturna
hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes
pseudopapilledema
straddling atrioventricular valve
spurred metaphysis of long bone of upper arm
germinal matrix hemorrhage
shortened gestation time
abnormal urine chloride concentration
soft calvaria
bracket shaped end part of pinkie finger bone
tubulointerstitial nephropathy
osteolytic defects of the middle phalanges of the hand
parathyroid aplasia
irregular end part of the middle bone of the little toe
sparse eyebrows
fragmentation of end part of the long bone of hand
curvature of pinkie finger
neuroectodermal neoplasm
urethral obstruction
abnormal middle finger bone of the middle finger
cervical dystonia
abnormality of the outermost little finger bone
absence of upper front baby tooth
small end part of the innermost bone of the 4th toe
abnormal bowel sounds
fragmentation of end part of the innermost bone of the ring finger
wasting of shoulder muscles
anomaly of nasal septum
ivory epiphysis of the proximal phalanx of the thumb
atresia of the rectum
occipital cortical atrophy
decreased sensory ncv
tibial deviation of toes
'rimmed vacuoles' on biopsy
absent pinky toe bones
high blood calcium levels
gastroesophageal reflux
situational syncope
agenesis of the anterior commissure
flat nasal bridge
pilonidal dimple
irregular epiphysis of the distal phalanx of the thumb
anomaly of the upper limb diaphyses
abnormal muscle fiber lamin a/c
curved middle toe phalanx
calcification of the interosseus membrane of the forearm
oral motor hypotonia
small distal segments of the shoulder blade
hypoplastic middle index finger phalanx
long palpebral fissure
missing eyebrows
partial/complete duplication of the proximal phalanx of the 3rd finger
macular retinal pigment epithelial mottling
abnormal vascular physiology
agenesis of permanent mandibular lateral incisor
tragus, duplicated
absent first metacarpal
muscle spasticity
relative afferent pupil defect
abnormality of the middle phalanx of the 3rd toe
stiff hip
joint contractures of the 2nd toe
abnormality of the paralabial region
abnormal vertebral ossification
increased length of neck
distichiasis
late tooth eruption
multiple non-erupting adult teeth
subhyaloid heme
profound global developmental delay
transient pulmonary infiltrates
patchy distortion of vertebrae
generalized low muscle tone in neonate
malformation of the palatine bone
abnormality of the end part of the toe bones
triangular end part of the outermost bone of the little toe
age-related macular degeneration
solitary bladder diverticulum
abnormality of lung morphology
triangular epiphysis of the 1st metacarpal
tracheobronchial anomalies
generalized weakness of limb muscles
high flash visual evoked potentials
atrophy of alveolar processes of jaw
deformational plagiocephaly
wide alveolar processes of jaw
fragmentation of end part of long bone of thumb
type 1 ventricular septal defect
short thumbs
scapular aplasia
muscle fiber cytoplasmatic inclusion bodies
genu vara
small end part of the 4th toe bone
reduced muscle fiber merosin
abnormally small eyelid
onset of lymphedema around puberty
small epiphysis of the distal phalanx of the 5th toe
spinal cord posterior columns myelin loss
epiblepharon of lower lid
broad hands
broad phalanges of the 2nd finger
central posterior corneal opacity
epicanthal folds
upturned earlobes
small alveolar ridge
increased skeletal muscle cells
patchy sclerosis of the middle phalanx of the 5th toe
mandibular hypoplasia
left-to-right shunt
increased bone density of end part of the outermost bone of the little toe
partial development of the penile shaft
incisor macrodontia
aplasia of the proximal phalanx of the 3rd toe
abnormal hair laboratory examination
decreased level of tpa
lower limb undergrowth
duplication of the outermost bone of the 4th toe
retinal arteriolar tortuosity
missing toes
complete duplication of the outermost bone of the 2nd toe
absent little toe bones
short phalanges
impotence
fleshy earlobes
abnormality of the fifth metatarsal bone
tilted maxilla
ridged nails
triangular shaped toe bones
albers-schonberg disease
broad nasal tip
cyanotic episode
narrow nasal ridge
large unciform bone
congenital foot contractures
bilateral external ear deformity
irregular end part of the 3rd toe bone
abnormality of neutrophils
bilateral breast hypoplasia
abnormality of the ileum
abnormal lymphocyte count
pseudoscleroderma
abnormality of arginine metabolism
elevated brain lactate level by mrs
absent tear duct
hyperkeratosis, diffuse palmoplantar
ureteral dysgenesis
hypoplastic-absent eccrine sweat glands
dental crowding
skeletal muscle hypertrophy
excessive growth of mandibular bone
high urine cystine levels
abnormality of the cerebellum
short ring finger
duplication of the proximal bones of the index finger
abnormality of circulating beta2m level
pelvic diverticulum
subtentorial periventricular white matter hyperdensity
furcate cord insertion
simian line
color vision defects
thinning of the corpus callosum
lung carcinoid tumor
abnormality of endocrine pancreas physiology
abnormality of the vertebral spinous processes
abnormality of descemet's membrane
iris pigment dispersion
abnormal muscle fiber laminin beta 1
tetralogy of fallot with pulmonary atresia
increased corneal curvature
absent/small kidney
vertical nystagmus
cerebellar hemisphere hypoplasia
short distal phalanx of the third finger
abnormal urinary acylglycine profile
high narrow palate
bullet-shaped proximal phalanx of the 5th toe
abnormality of bones of the orbit of the skull
hyperostosis of facial bones
intermittent microsaccadic pursuits
stereotypical hand wringing
chondroitin sulfate excretion in urine
fragmentation of the end part of the innermost bone of the pinkie toe
progressive extrapyramidal movement disorder
pressure sore
bracket epiphyses of the 4th toe
longitudinal splitting of nail
best corrected visual acuity 0.1 logmar
abnormal motor evoked potentials
absent primary metaphyseal spongiosa
hypotonia, in neonatal onset
plaque build-up in cerebral artery
abnormality of long-chain fatty-acid metabolism
generalized dysplasia of tooth enamel
large epiphysis of proximal middle-finger phalanx
pleurisy
abnormality of the foot musculature
ivory epiphysis of the distal phalanx of the 2nd toe
thin base of nose
hypertrophy of half of face
vitreous condensations
partial loss of field of vision
abnormality of the outer ear
dentinogenesis imperfecta limited to primary teeth
corneal annulus
lower jaw pain
abnormality of circle of willis
abnormality of shaft of long bone in upper arm
cleft hard and soft palate
partial/complete duplication of the proximal phalanx of the 4th finger
abnormal female external genitalia
lower jaw deficiency
carcinoid
double collecting system
small thumbs
vagal paraganglioma
hypoplastic/small thumb
metaphyseal chondromatosis of tibia
decreased height of chin
struvite nephrolithiasis
michel deformity
abnormality of the umbilicus
leg weakness
ovalocytosis
abnormality of the zygomatic arch
multiple carpal ossification centers
bullet-shaped innermost toe bone
partial duplication of the distal phalanx of the 4th finger
hypo-autofluorescent macular lesion
rapidly progressive disorder
abnormal face
mitochondrial encephalopathy
flattened moderately deformed vertebrae
abnormality of corneal shape
bad bite
metopic suture craniosynostosis
corneal stromal opacity
choroid plexus hypertrophy
patchy sclerosis of 4th finger phalanx
curvature of thumb
eeg with spike-wave complexes (<2.5 hz)
increased ossification of cranial bones
ectopic kidney
hypoplastic ears
muscle twitch
dementia
abnormality of cartilage morphology
hyperammonemia, asymptomatic
increased bone density in middle finger bone
posterior leukoencephalopathy
thickened calvaria
lateral femoral bowing
triangular end part of the outermost bone of the big toe
retrocerebellar cyst
excessive sweating
bullet-shaped middle phalanx of the 3rd finger
absent/small sacrum
abnormality of the fundus
saggy upper eyelid skin
vein of galen aneurysm
chorioretinal hypopigmentation
irregular chondrocostal junctions
equinus deformity of the calcaneus
flat area between the eyebrows
dysplastic femoral head
agammaglobulinemia
limited joint mobility
muscular hypotonia of the trunk
wide hamate bone
decreased tendon reflexes
bulging end part of bone
short proximal phalanx of the 3rd toe
wide head shape
toe syndactyly
irregular end part of the outermost bone of the pinky toe
trouble sleeping
broad late closing cranial sutures
abnormality of mastocytes
chronic acidosis
2-3 finger syndactyly
abnormality of the nasal tip
paroxysmal involuntary eye movements
passing out
pseudobulbar signs
abnormality of the region around the eye
diffuse telangiectases
fragmentation of the end part of the pinky toe bone
dichromacy
abnormality of the pulmonary veins
birth length <3rd percentile
upward slanting of the opening between the eyelids
widened, distorted epiphyses
abnormality of the wide portion of the lower-limb bone
abnormal pattern of respiration
aplasia of the phalanges of the 5th toe
triangular end part of middle finger bone
short foot
absent/hypoplastic third toe
sacroiliac joint synovitis
congenital megacolon
abnormality of the nasal bridge
congenital small head circumference
low-set nipples
profound sensorineural hearing impairment
lytic defects of the humeral metaphysis
anterior/lateral radial head dislocation
recurrent bronchopulmonary infections
aplastic/hypoplastic thumbs
absent long bone in upper arm
broad phalanges of the 3rd finger
facial neoplasm
spock's ear
round back
complete common av canal
early onset of sexual maturation
short distal phalanx of the 5th finger
hypermineralization of skull base
proximal esophageal atresia
cor pulmonale
mono nostril
absent shoulder blade
intermittent abdominal pain
progressive bowing of long bones
refractory sideroblastic anemia
bracket epiphysis of the proximal phalanx of the 4th finger
abnormality of the terminal phalanx of the little finger
protanopia
endopolyploidy on chromosome studies of bone marrow
decreased volume of lower lip
extra index finger
amniotic sheet
short distal phalanx of the third toe
obsolete increased circulating gonadotropin level
carious teeth
central defect of nose
vitamin b1 deficiency
renal neoplasia
infrequent bowel movements
aggressiveness
absent vertebral body mineralization
jaundice, neonatal
absent/hypoplastic patella
minimal change disease
premature hair graying
short fourth metatarsals
impaired ristocetin-induced platelet aggregation
elevated immunoglobulin e
jejunoileal diverticula
partial duplication of the middle bone of the 4th toe
high-frequency sensorineural hearing impairment
lytic defects of the phalanges of the ring finger
abnormality of the nasopharynx
small cerebellum
intrauterine onset
complete duplication of the first metacarpal
distal finger flexion creases absent
recurrent thromboembolic disease
hemiatrophy of upper limb
bifid terminal phalanges of thumbs
overtubulated long bones
increased hemolysis
liver abnormality
narrowing of the colon
obsolete hypoplastic/small phalanges of the 3rd finger
abnormality of the distal phalanx of the 4th toe
hypothalamic luteinizing hormone-releasing hormone deficiency
hyperphosphatemia
skull asymmetry
acute respiratory tract infection
position
reduced oct-measured macular thickness
ivory epiphysis of the distal phalanx of the 5th finger
deformity of base of nose
advanced eruption of teeth
bloody diarrhea
slow eye movements
abnormal pulmonary function test
abnormal ventricular filling
pectus excavatum or pectus carinatum
absent metacarpals
decreased serum c3
decreased serum c9
hyoplasia of the leydig cells
partial iga deficiency
iugr
abnormal shape of long bones of hand
increased palatal height
poor fine motor coordination
cerebral dysmyelination
abnormality of phagocytes
bullet-shaped middle bone of the little toe
short little toe
tombstone-shaped innermost digital bones
st segment elevation
contracture of the distal interphalangeal joint of the 3rd finger
chin with vertical sulcus
hypertrophy of supraorbital margins
gynaecomastia
ectopic macula
asymmetric philtral columns
eeg with constitutional variants
palmar telangiectasia
tetralogy of fallot with pulmonary atresia and major aortopulmonary collateral arteries
rectovestibular fistula
abnormality of facial musculature
reduced creatinine clearance
macular pigmentary changes
vesicoallantoic abdominal wall defect
capillary hemangioma
hypertrophy of maxilla
atheromatosis
fatigable weakness
midface retrusion
premature graying of the hair
increased size of gum ridge
curvature of the little toe
undulate ribs
wide innermost wide portion of shankbone bone
short ribs
short proximal phalanx of hallux
sclerosis of 2nd toe phalanx
abnormal arterial physiology
dens evaginatus
chronic
ostium secundum atrial septal defect
delayed loss of baby teeth
defective t cell activation
abnormal insulin level
hypoplastic prostate
absence of permanent lower front tooth
broad clavicles
mitral stenosis
hand dimples
recurrent low potassium
hypotrophic alveolar ridge
uric acid urolithiasis independent of gout
spastic gait
short arms
deep vein thrombosis
enlarged epiphyses of the fingers
methylmalonic aciduria
frequent otitis media
accessory spleen
partial absence of foot
crooked septum of nose
failure of development of maxillary central incisor
speckled iris
anomaly of the columella
decreased sexual hair
chronic heart failure
complete duplication of the proximal phalanx of the 2nd toe
abnormality of the antrum of highmore
conductive hearing loss, mild
osteolytic defects of the hand bones
delayed maturation of the end part of the verebral bone
bile duct proliferation
neonatal asphyxia
dentinogenesis imperfecta
atopic dermatitis
tall shaped head
neoplasm of the trachea
low alkaline phosphatase of renal origin
hepatocellular necrosis
proportionate short stature
increased csf protein
intermittent overbreathing
short phalanges of the little finger
decreased distance between eyes
finger symphalangism
hayfever
hypoplastic lacrimal duct
dilated nares
nasal tip, overhanging
proximal tubule dysfunction
anti-liver cytosolic antigen type 1 antibody positivity
abnormal best corrected visual acuity test
coxa plana
abnormality of vitamin metabolism
elevated circulating catecholamine level
hypoplastic lungs
partial functional adipsin deficiency
forked uvula
ovarian neoplasm
epiphyseal punctate calcifications
pterygium of nails
abnormal renal function
tented philtrum
renal neoplasm
abnormally small head
small platelets
mucopolysacchariduria
radially deviated index finger
deformed humerus
missing permanent maxillary central incisor
abnormally low-pitched voice
short middle bone of pinky toe
distal femoral bowing
scapulae exostoses
thyroid atypical adenoma
imperforate anus
abnormal leukocyte function
depressed glabella
prolonged qrs complex
accumulation of melanosomes in melanocytes
hypoplasia of the semicircular canals
microtia
hypertrophy of cranial bones
multiple mitochondrial dna deletions
synostosis involving the elbow
telangiectasia, conjunctival
ptosis, bilateral congenital
supernumerary ribs
weakness of outermost muscles
thoracic situs inversus
uterine abnormalities
progressive mental and motor deterioration
hypoplasia of malar bone complex
increased space between first and second toes
exaggerated thoracic kyphosis
small, pointed teeth
abnormal social behavior
scapular hypoplasia
retarded development
abnormal prints on feet
dense calvaria
absent long bone of hand
wavy collarbone
respiratory infections
white matter hypointensities on mri
skull bossing
peripheral visual field constriction with 40-50 degrees central field preserved
malformation of the lower lip
cushing's symphalangism
abnormal white blood cell count
anterior wedging of l2
respiratory system tumor
anterior wedging of l1
bullet-shaped middle pinky finger bone
seizures, partial, afebrile
multiple pterygia
abnormal vision evoked potentials
unsteady walk
thenar muscle weakness
basal ganglia cysts
blood circulation disorder
depression
abnormal cortical gyration
abnormality of the forehead soft spot
deficient nasal tip
congenital absence of external ear
delayed eruption of baby teeth
pulmonary oedema
transverse vaginal septum
squared superior portion of helix
abnormality of the 5th toe
large anterior fontanel
wenckebach block
increased width of neck
severe long-sightedness
movement disorder
decreased igg level
decreased number of deciduous teeth
increased bone density in hand bones
premature ovarian failure
central apnoea
overgrowth of facial bones
generalized hypotonia due to defect at the neuromuscular junction
adrenocortical insufficiency
proclination of the upper incisors
acth-producing pituitary adenoma
anomaly of the bone marrow cells
abnormality of the enteric ganglia
short distal phalanx of the fifth finger
fused innermost bone of big toe
broad outermost bone of the 5th toe
arthritis
glomus jugulare tumors
scoliosis, thoracolumbar
fusion of carpal and tarsal bones
delayed dental development
shakey voice
common atrium
horizontal orientation of the crus of helix
adrenocortical hypoplasia
sclerosis of the phalanges of the hand
prominent nose
polydactyly affecting the 5th finger
increase in t cell number
aplasia/hypoplasia involving bones of the skull
distal symphalangism
frayed, irregular, metaphyses
hypoplasia of right ventricle
increased thigh size
visceral aura
relative afferent pupillary defect
small facial muscles
short or absent limbs
intermittent abnormally low body temperature
supernumerary thumb
midline supernumary tooth
no globe of eye
hypoplastic bone marrow
multicystic kidneys
underdevelopment of nasal septum
broad bones of the pinkie toe
reduced orotidine 5-prime phosphate decarboxylase activity
generalized distal tubular acidosis
reduced delayed hypersensitivity
persistent open cranial sutures
neoplasm of head and neck
1-3 finger syndactyly
abnormality of the region around the ear
cerebellar vermis aplasia or hypoplasia
webbed first through fourth toes
early closure of the cranial sutures
abnormal vein
stereotypical body rocking
pschomotor retardation
rapid heart beat
ocular hypotelorism
abnormality of cd4+ t cells
constipation
small sacrosciatic notch
hypertrophic antitragus
large cranium
severe t lymphocytopenia
hypotonia, axial, in infancy
abnormality of the voice
myoclonic epilepsy, progressive
bladder diverticulum
short-trunked dwarfism
wide ulna
sclerosis of the middle phalanx of the 3rd toe
emphysema
sclerosis of middle finger phalanx
central heterochromia
omphalocele
raynaud disease
chorioretinal scar
thin upper lip vermilion
fused pinky finger bones
megacalicosis
absent/underdeveloped innermost big toe bone
abnormality of chloride homeostasis
acral ulceration and osteomyelitis leading to autoamputation of the digits (feet)
short distal phalanx of the thumb
unilateral deafness
asymmetric short stature
sclerocornea
acral
prominent supraorbital ridge
abnormal prolactin level
cutaneous myxoma
dysplastic ears
anomaly of the biliary tract
enlarged end part of the outermost bone of pinkie finger
poor vision
mesangial proliferation
uneven increase in bone density in the middle bone of the pinkie finger
highly variable severity
sperm head anomaly
supraventricular tachycardia with a concealed accessory connection
complete duplication of the outermost bone of the ring finger
scrotal hyperpigmentation
flexion limitation of toes
hypoplastic ischiopubic rami
hirsutism
kabuki syndrome eyelids
malformation of mandibular bicuspid
lack of sweating
l5 sacralization
incomplete calcification of palatine bone
hypoplastic pectoral muscle
longitudinal groove on soles
obsolete abnormal heart morphology
onset in infancy
sclerosis of 3rd finger phalanx
cone-shaped epiphyses of the 4th finger
high urine orotic acid levels
ectrodactyly
fatiguable weakness of proximal limb muscles
increased ferritin
pronounced philtrum
recurrent upper respiratory infections
wide nasal base
premature arteriosclerosis
motor neuron degeneration
progressive inspiratory stridor
salt and pepper retinal pigmentation
transient hyperlipidemia
biphenotypic acute leukaemia
curved distal phalanx of the 4th finger
anterior rib cupping
adducted thumbs
abnormality of zygomaticus major muscle
isoelectric focusing of serum transferrin consistent with cdg type i
increased sialylation of n-linked protein glycosylation
abnormality of the calcaneal tendon
absent epiphyses of the proximal phalanges of the hand
cerebellar dysplasia
bracket shaped end part of ring finger bones
recurrent upper respiratory tract infections
photoparoxysmal response on eeg
wide anterior fontanelle
abnormality of the stomach
missing frontal sinus
recurrent fungal infections
abnormality of the gums
male pattern baldness
macrocephaly, postnatal
increased interpupillary distance
hypoplasia of proximal radius
abnormal muscle fiber merosin expression
absent/hypoplastic terminal phalanges of toes
rudimentary fibula
endomyocardial fibrosis
kinked brainstem
abnormality of mouth size
degenerative intervertebral disk
anterior pyramidal cataract
abnormality of premolar
finger swelling
abnormal teeth
absent/small spine
long ear
cutaneous angiolipomas
juvenile idiopathic arthritis
enlarged end part of the middle bone of the ring finger
subcutaneous fat loss
aspirin-induced asthma
myoglobinuria, episodic
medially deviated second toe
sporadic
short tongue frenum
tibial deviation of the 2nd toe
facial wart
abnormal fundus fluorescein angiography
pseudoepiphyses of the 4th toe
psychomotor development deficiency
c1-c2 subluxation
midline notch of maxillary alveolar process
absent/small middle index finger bone
fusion involving the 2nd long bone of hand
hyperchylomicronemia
irregular costochondral margins
delta phalanx/delta-like phalanx
elongated nose
abnormality of the epiphysis of the 1st metatarsal
abnormality of glutamine family amino acid metabolism
duplicated colon
sclerosis of metaphyses of the upper limbs
progressively abnormally small cranium
bracket shaped end part of innermost long bone of the middle finger
secretory adrenocortical adenoma
overlapped maxillary incisors
hyperreflexia proximally
cholelithiasis
sparse pubic hair
decreased pyruvate carboxylase activity
abnormality of the lacrimal gland
hypophosphataemia
impacted teeth due to mucopolysaccharidoses
discontinuous ascending root of helix
abnormality of the nipple
unusually long eyelashes
bowed tibia
nystagmus, horizontal gaze-evoked
increased bone density in wide portion of the upper limb bones
absent/small shoulder muscles
female orgasmic disorder
increased bone density of end part of the outermost pinkie finger bone
pneumonia, recurrent episodes
diverticulosis of trachea
centrally nucleated skeletal muscle fibers
aplasia of the middle phalanx of the 4th finger
spinal neurenteric cyst
tetralogy of fallot
double outlet right ventricle with subaortic ventricular septal defect without pulmonary stenosis
patchy sclerosis of the proximal phalanx of the thumb
aplasia/hypoplasia involving the central nervous system
auras
midline notch of upper alveolar ridge
multiple cafe-au-lait spots
degeneration of white matter of brain
tracheal calcification
neoplasm of the genitourinary tract
slender fingers
abnormal glomerular filtration rate
transverse hypoplasia of face
deformity of the nasolabial region
amyotrophy of the thigh musculature
fetal cystic hygroma
skin pustule
protuberances at ends of long bones
poor speech discrimination
overgrowth of the midface
loss of bowel control
axonal sensory neuropathy
involuntary writhing movements
hypoplastic alae nasi
hypoplastic uterus
menometrorrhagia
wrist swelling
abnormal large bone of ankle
angiokeratoma corporis diffusum
asymmetry of the size of ears
increased serum igf1
shortened pr interval
oral-pharyngeal dysphagia
symmetric spinal nerve root neurofibromas
vitamin e deficiency
symphalangism affecting the middle phalanx of the 4th toe
uncontrollable movement in upper arms
neuronal loss in central nervous system
small clitoris
osteolytic defects of the phalanges of the 5th toe
increased phospho-creatine kinase after exercise
fused bones in the pinky toe
hypothalamic atrophy
extra testes
hypoplastic/small 5th finger
cellular immune defect
aseptic leukocyturia
obsolete thumbs hypo/aplastic
loss of developmental milestones
extrapyramidal dyskinesia
thoracoabdominal schisis
photodysphoria
bracket epiphyses of the ring finger
missing permanent upper central incisor
heart septal defect
dentin dysplasia
notched tip of nose
achilles tendon contracture
mnemonic auras
small miniature endplate potentials
herpes simplex encephalitis
upper limb muscle weakness
abnormality of sulfur amino acid metabolism
decreased testosterone in males
partial absence of thumb
absent/underdeveloped vetebral column
irregular distal femoral epiphysis
loss of subcutaneous adipose tissue from upper limbs
small trapezoid bone
aplasia/hypoplasia of the primary palate bone
congenital muscular dystrophy
curvature of 4th toe
esophagitis
increased bone density in the middle bone of the 3rd toe
abnormality of the viiith cranial nerve
ureteropelvic junction obstruction
frontal cortex degeneration
serous ovarian cyst
short-segment aganglionic megacolon
generalized tissue edema
laryngeal cleft
wrinkled skin of hands and feet in newborn
aplasia/hypoplasia of the breasts
excess fluid in lungs
increased mineralization of skull
abnormality of cranial vault shape
congenital neurosensory deafness
beaked nose
decreased size of alveolar process of jaw
round facial shape
absent/small outermost thorax bone
small epiphysis of the proximal phalanx of the 5th toe
sternal anomalies
cloudy corneas
speech and language delay
syndactyly of 3rd - 4th toes
synostosis of distal phalanges
hypermagnesiuria
hyperthreoninuria
bluish sclerae
abnormality of the tubular bones
triangular end part of the pinkie finger
wandering eyes
decreased size of tip of nose
hypoplastic/absent metacarpals
thin nasal base
increased bone density in ring finger bone
bilambdoid synostosis
periventricular neuronal heterotopia
exotropia
restrictive respiratory disease
omphalocoele
short fetal long bone in upper arm length
abnormality of the parietal bone of skull
short limb
absent/underdeveloped skin
fusion of wrist bones
nonepidermolytic palmoplantar keratoderma
morbus basedow
macrocytic hemolytic disease
difficult to breathe
multiple buried teeth
tia
enlarged epiphysis of the distal phalanx of the 3rd toe
subarachnoid haemorrhage
speckled calcifications in end part of the middle bone of the pinkie finger
palmar pits
abnormality of serum cytokine level
diffuse axonal swelling
curved outermost bone of big toe
aqueduct stenosis
decreased vital capacity
cellulitis
multiple bilateral pneumothoraces
absent/hypoplastic corpus callosum
intestinal lymphoid nodular hyperplasia
diminished vibratory sensation in the legs
everted antitragus
eye poking
phenotypic modifier
tumor of mouth
type 2 total anomalous pulmonary venous connection
1-5 finger syndactyly
abnormal maturation of long bone of foot
flat line eeg
cognitive abnormality
decreased range of movement range in hinge joints
decreased strength of facial muscles
hypoplastic nose
trilobar cranium shape
severe receptive language delay
abnormality of t cell number
monostotic fibrous dysplasia
vertical forehead rhytids
pinched nerve
partially dislocated lens
abnormality of enteric nervous system morphology
cleft lip/palate
blepharochalasis
hypoplastic bladder
obsolete depigmented lesions of the retinal pigment epithelium
plump lips
bracket shaped end part of 1st long bone of foot
intracerebral hemorrhage
overriding atrioventricular valve
hemolytic anemia
dysplastic erythropoesis
concha, extra fold
muscle fiber tubuloreticular aggregates
small adrenal cortex
broad distal big toe
absent muscle fiber gamma sarcoglycan
abnormality of frontal sinus
edema of the lower limbs
progressive cone dystrophy
absence of mandible
abnormality of the femoral head
bilateral facial palsy
atlanto-axial subluxation
dilated cerebral ventricle
premature posterior fontanelle closure
abnormality of depressor anguli oris muscle
deep episcleral hyperaemia
partial/complete duplication of the distal phalanx of the 3rd finger
palate abnormality
epidermoid cysts
hypoplasia of the pyramidal tract
cerebral cortex atrophy
bone overgrowth
fatigable weakness of chewing muscles
shortening of all phalanges of fingers
second finger ulnar deviation
lack of sweating or excessive sweating
elevated pulmonary artery pressure
sensorineural hearing loss, progressive
underdeveloped iris
fulminant hepatic failure
pseudoepiphysis of the 3rd metacarpal
urethral atresia
excessive growth of facial skeleton
bracket shaped end part of the innermost bone of the ring finger
potato nose
small testes
fragmentation of the epiphysis of the proximal phalanx of the hallux
inheritance
decreased vibration sense
increased bone density of end part of the middle bone of little finger
bone-in-a-bone appearance of carpal bones
esophageal stricture
shortened pr interval on ekg
reduced corneal sensation
joint contractures of the 2nd finger
abnormality of the axillary hair
constrictive bronchiolitis
hyperreninemic hyperaldosteronism
hypoplasia of the diaphragm
fusion of the subtalar joint
absent/hypoplastic middle phalanx of 5th finger
subacute deterioration of visual acuity
labyrinthine aplasia
patchy sclerosis of the distal phalanx of the 2nd toe
fragmentation of the epiphyses of the fingers
narrow maxilla
increased vertebral height
absent/rudimentary nipples
duplication of great toes
skin tag behind the ear
oppenheim reflex
unilateral coronal suture craniosynostosis
paragangliomas
abnormal foot bone ossification
subluxation of the small joints of the hand
immunodeficiency, severe combined
underdeveloped scrotum
delayed maturation of end part of long bone
nappy scalp hair texture
abnormality of the face
reduced erg amplitude of b-wave
single palmar creases
cow milk allergy
dwarfism, short limb mesomelic
absence of permanent teeth
curvature of ring finger
nasal deformity
absent upper vagina
aplasia/hypoplasia of the proximal phalanx of the 2nd finger
obsolete butterfly retinal pigment epithelial dystrophy
bifid antitragus
torsades de pointes
down-sloping shoulders
absent/small colon
decreased circulating luteinizing hormone level
bunion
duplication of the middle bone of the pinkie toe
cerebral hyaline bodies
choledochal cyst
hereditary pyropoikilocytosis
true pulp stones
peripheral visual field loss
gingival hemorrhage
acantholysis
hyperextensible finger
abnormality of the corneal limbus
madelung wrist deformity
irregular sclerotic endplates
reduced brain lactate level by magnetic resonance spectroscopy
curvilinear profiles ultrastructurally
protein avoidance
crowded wrist bones
tryptophanuria
abnormality of the external nose
chronic hepatitis due to cryptospridium infection
abnormality of digit
dystonia musculorum deformans
torsion dystonia
absence of mandibular central incisor
abnormal shape of the radius
obsolete choroidal dystrophy
temporomandibular joint grating sound
slow visual tracking
hyperchloremic metabolic acidosis
microhematuria
metacarpals osteolysis
white matter hyperintensity
upslanting nail
bullet-shaped innermost thumb bone
cardiorespiratory arrest
contracture of the metacarpophalangeal joint of the 5th finger
hyperpigmented skin patches
triangular end part of the big toe bone
progressive hypertrophy of alveolar process of jaw
absence of the condylar head of mandible
deformity of the external nose
weak cry
elevated plasma citrulline
broad diaphyses of the upper limbs
hypogammaglobulinemia
acanthocytosis
midline central nervous system lipomas
increased variation in muscle fiber size
lens opacity
hypoplasia of foramen magnum
prominent bridge of nose
abnormal visual evoked potential
ulnar deviation of the ring finger
neoplasia of the male external genitalia
unilateral kidney wasting
abnormal mouth
uneven increase in bone density in the middle bone of the pinkie toe
anti-centromere antibody positivity
short thumb terminal phalanx
decreased cranial base ossification
thickening of the alae nasi
elevated alkaline phosphatase of bone origin
leiomyosarcoma
abnormality of the cerebrospinal fluid
irregular epiphysis of the proximal phalanx of the 2nd toe
abnormal basal ganglia mri signal intensity
obstruction of eustachian tube
asymmetric limb shortening
decreased respiratory function due to muscle weakness
recurrent parasitic infections
patchy increased and decreased bone mineral density
ocular motor apraxia
abnormality of the end part of the middle bone of the little toe
mitral regurgitation
partial duplication of the pinkie finger bone
premature supraventricular beats
mediastinal teratoma
long middle bone of finger
hyporeflexia of lower limbs
hairy elbow
postural hypotension
failure of development of facial bones
short middle phalanges of toes
deviation of the mandible
enlarged flash visual evoked potentials
eeg: periodic complexes
prominent ear lobes
widely spaced eyes
right bundle-branch block
abnormal shape of the digestive system
pilomatrixoma
complete duplication of the middle phalanx of the 3rd toe
abnormal pinhole visual acuity test
disorganization of the anterior cerebellar vermis
stippling of the epiphysis of the middle phalanx of the 5th toe
osteoblastoma
flattening of facial bones
punctate calcifications of tarsals
anteriorly splayed ribs
straight eyebrow
auricular pit
tinnitus
pancreatic islet-cell hypertrophy
cheiloschisis of upper lip
abnormality of the glomerulus
stature below 3rd percentile
ala nasi, thick
diffuse leiomyomatosis
muscle weakness, generalized
swallowing difficulties
underdeveloped lymphatic vessels
abnormal csf a[beta]42 level
failure of eruption of tooth
anomaly of the lower lip
elevated urinary catecholamines
absent/small shinbone
kinky scalp hair texture
basal ganglion calcification
simple philtrum
thyroid agenesis
sclerosis of the proximal phalanx of the 4th finger
minimal change glomerulonephritis
increased urinary homovanillic acid
arthropathy
callosal agenesis
underdeveloped ventral pons
pseudoepiphysis of the distal phalanx of the 3rd finger
white patch
basalioma
diffuse retinal cone degeneration
abnormality of the cell cycle
unaided visual acuity 0.8 logmar
split tongue
pseudoepiphyses of the 4th finger
postnatal deceleration of head circumference
abnormality of skin physiology
decreased muscle movement
occlusive vascular disease
anomaly of the nares
neural tube defect
aplasia of the bladder
cone-shaped end part of the 1st long bone of hand
abnormality of the epiphyses of the 4th finger
small genitalia
abnormality of pharyngeal tonsil
arterial tortuosity, general
postauricular earpits
slender feet
malformation of the nasal skeleton
adult onset
upward slanted palpebral fissures
increased urinary vanillylmandelic acid
spots in front of eyes
steppage gait
facial nerve palsy
skin infections, recurrent
progressive calcification of costochondral cartilage
camptodactyly
tragal bridge of crus of helix
supplemental teeth
hernia
morgagni diaphragmatic hernia
hypoplasia of the fovea
abnormal thigh muscles
obsolete lytic defects of the proximal phalanx of the ring finger
broad bones of the 2nd toe
increased size of half of the tongue
epididymal cyst
short phalanx of the 3rd toe
irregular iliac crest
nostrils anteverted
venous abnormality
progressive loss of facial fat
reversed usual vertebral column curves
long middle phalanx of finger
mole
absent middle phalanx of 4th finger
abnormality of lysosomal metabolism
apneic episodes in infancy
visible septum of nose
hypotrophic facial bones
camptodactyly of second finger
increased laxity of wrists
cataracts, lenticular, bilateral
fused outermost bones of the little toe
rhomboid or triangular shaped pinky finger bone
generalized gum disease
ulnar dislocation of radial heads
cranium bifidum
irregular heart beat
metaphyseal widening
thin gracile long bones
irregular proximal femoral epiphyses
enophthalmos
peripheral amyelination
perimembranous ventricular septal defect
dysautonomia
prominence of frontal region
aplasia of internal carotid artery
renal agenesis/hypoplasia
sloping shoulders
horizontal acetabulae
abnormal number of erythroid precursors
nonmedullary thyroid carcinoma
fallopian tube torsion
abnormal shape of of forearm bone
irregular end part of upper limb bones
decreased head circumference present at birth
wide shaft of long bone of the upper limbs
urethrocele
partial/complete duplication of the proximal phalanx of the 5th toe
abnormality of lateral rectus extra-ocular muscle
superficial corneal opacities
total hyposmia
abnormality of methionine metabolism
abnormality of neural tube closure
moderate mental deficiency
clitoral hypertrophy
thick fibulae
simple ears
cutaneous photosensitivity
hump-shaped mound of bone in central and posterior portions of vertebral endplate
obsessive-compulsive behavior
open mouth
obsolete occlusive vascular disease
gowers sign
ambiguous genitalia
acid base imbalance
giant somatosensory evoked potentials
premaxillary bone retrusion
glomerulopathy
concentric hypertrophic cardiomyopathy
dyssynergia
aplasia of the 4th metacarpal
contractures involving the joints of the feet
small nails
abnormality of end part of the innermost bone of pinky finger
low alkaline phosphatase of bone origin
second degree atrioventricular block
combined hamartoma of the retinal pigment epithelium and retina
abnormality of the superior cerebellar peduncle
limb-girdle myopathy
choking episodes
hypothermia
elevated follicle-stimulating hormone
increased spinal bone density z
thick nail
small scaphoid
abnormal foveal pit on macular oct
abnormality of nasopharyngeal adenoids
triangular shaped 1st metatarsal
increased overlap of upper and lower incisors
short femurs
anterior rib punctate calcifications
perseverative behavior
demyelination
anomaly of the esophagus
hypoplastic aortic arch
poor eye contact
spurred metaphyses of the upper limbs
pachygyria
increased igm level
failure of development of lower jaw
increased erythrocyte protoporphyrin concentration
increased bone density of end part of the innermost hand bones
hypotrophic frontal bone
increased bone density in the outermost bone of the big toe
involvement of the corticospinal pathways
absent extraocular muscles
emg: decremental response of compound muscle action potential to repetitive nerve stimulation
bowed radii
hemihypertrophy
telangiectasia of mucosa of nose
obsolete decreased subcutaneous fat
posterior capsular cataract
gout of big toe
corneal neovascularisation
humeral sclerosis
deficiency of anterior nasal spine
bullet-shaped toe phalanx
hindfoot equinus
transient swelling of muscle induced by percussion
green-weak
generalized muscle atrophy, proximal and distal
dumbbell-shaped femur
moderate receptive language delay
eeg with focal slow activity
social and occupational deterioration
complete duplication of the outermost bone of the 3rd finger
spontaneous closure of eyelid
asymmetry of head
oral soft tissue hyperplasia
multiple small vertebral fractures
decreased number of cd3+ t cells
contracture of the distal interphalangeal joint of the 2nd finger
abnormal nerve conduction velocity
umbilical cord cyst
absent/underdeveloped innermost finger bones of the hand
reduced fetal movements
skeletal muscle fatty infiltration
depressed nasal root
laryngotracheal cleft
synostosis of radius and humerus
blood clot in mesentertic vein
xy female gonadal dysgenesis
bilateral pulmonary agenesis
high forehead
oral cavity hemorrhage
jaw neoplasm
axon degeneration and regeneration
cone monochromacy
accumulation in muscle cells of filaments composed of actin.
abnormality of sseps
pyramidal tract disease
prolonged
sacral meningocele
hypertrophic auricular cartilage
sacral kidney
talipes calcaneovarus
asthenic habitus
broadened nasal bridge
stippling of the epiphysis of the proximal phalanx of the 4th toe
septo-optic dysplasia
distal sensory impairment
abnormality of the middle phalanx of the 4th finger
increased jitter at single fibre emg
one nostril
central nervous system infection
abnormal thryoid location
nail bed telangiectases
duplication of the distal phalanx of the 2nd finger
bidirectional ventricular ectopy
macular scarring
rod monochromacy
hyperintense lesions in the basal ganglia on mri
selective tooth agenesis
conjunctival papillae
segmental myoclonic seizures
double outlet right ventricle
biber haab dimmer dystrophy
vertical hypoplasia of face
colorblindness, partial, protan series
facial weakness
retarded psychomotor development
renal dysplasia, cystic
decreased level of heparin co-factor ii
small cheekbone
sagittal suture synostosis
unilateral ptosis
chronic hemolytic anemia
partial albinism
platonychia
meconium peritonitis
absent end part of the middle bone of the 3rd toe
hearing loss, sensorineural, bilateral
dislocation of the radial head
increased nasal breadth
thickened elastic fibers in the dermis
impaired speech and language development
cushing syndrome
muscular hypotonia
coarse facial appearance
skin papules
cone-shaped epiphysis of the proximal phalanx of the 5th toe
triangular epiphysis of the proximal phalanx of the 2nd toe
sudden episodic apnea
hypoplastic mandible
stippled calcification of the humeral epiphyses
abnormal electroretinography
retina tumor
plaque build-up in aorta artery
retinal coloboma
hypermobility of toe joints
slipped capilal femoral epiphysis
bulbous tip of nose
small epiphysis of the distal phalanx of the 5th finger
failure of development of parotid duct
abnormality of the proximal phalanx of the 4th finger
vitreous snowballs
submucous cleft hard palate
abnormality of septum of nose
irregular end part of innermost long bone of index finger
abnormality of hair density
abnormality of the central nervous system
juvenile diabetes mellitus
thumb aplasia
hypoplasia of sella turcica
double outlet right ventricle with non-committed ventricular septal defect and pulmonary stenosis
increased follicular density
hypothenar hypoplasia
vertebral coronal clefts
iris stromal hypoplasia
tapered distal phalanges
total anodontia
ventricular dilatation
dynein arm defect of respiratory motile cilia
muscle hypoplasia
retinal calcification
renal hamartoma
deformity of the cheeks
erythematous papule
missing tongue
enlarged epiphyses of the 3rd finger
arterial thrombosis
proximal tubular acidosis
hip-girdle muscle weakness
abnormality of the epiphyses of the elbow
extra concha fold
gluconeogenesis impaired
irregular end part of the pinky toe bone
conoid mandibular incisor
congenital visual impairment
triangular shaped proximal phalanx of the 5th finger
adrenal gland disease
absent/small outermost bone of pinky finger
absent middle bone of pinky finger
tessier facial cleft number 6
digestive system disease
hyperostosis cranialis interna
constricted iliac wings
uneven increase in bone density in the middle bone of the pinky toe
reduced carnitine o-palmitoyltransferase activity
fragmentation of the end part of the outermost bone of the big toe
bifid distal phalanges of toes
red bump on inner eyelid
wide nasal dorsum
pansynostosis
hypoplasia of latissimus dorsi muscle
failure of development of eyeball
cleft muscular palate
missing nasal bone
frontomalar faciosynostosis
clusters of axonal regeneration
blister
elevated urine calcium levels
microblepharia
fetal macrosomia
decreased beta-glucocerebrosidase protein and activity
hypoplastic fingers
increased variability in muscle fiber size
muscle fiber actin filament accumulation
complete duplication of distal phalanx of the thumb
prominent upper incisors
cupped wide portion of hand bones
central diaphragmatic hernia
dementia, progressive
percussion-induced rapid rolling muscle contractions
abdominal aura
abnormal ossification of tarsal bones
elevated serum parathyroid hormone level
facial hemihyperplasia
abnormally lax or hyperextensible skin
moderate mental retardation
lateral deviation of great toe
headache
increased beta-lipoproteins
painless fractures due to injury
cutaneous leiomyomata
trochlear nerve palsy
aglossia
diphallia
reduced blood thiamine level
umbilicated nodule
abnormality of the end part of the 4th toe bone
deformity of the palpebral fissures
decreased distal vibration sense
duplication of phalanx of 5th finger
absent pubic bones
progressive distal muscular atrophy
abnormality of the jaw joint
absent/underdeveloped middle index finger bone
cerebellar vermis aplasia
emotional instability
improved by
increase in b cell number
irregular epiphyses of the proximal phalanges of the hand
abnormality of shape of baby molar
partial duplication of the phalanx of hand
abnormality of cholesterol metabolism
nasolabial crease, hypoplastic
tortuous retinal arterioles
complete agenesis of all teeth
facial hyperostosis
absent/underdeveloped ring finger bone
temporal narrowness
endobrachyesophagus
small epiphysis of the proximal phalanx of the 5th finger
bilateral cheiloschisis
short innermost little finger bone
absence of large von willibrand factor multimers
osteolytic defects of the phalanges of the toes
ear, posterior helical notch
increased circulating androgen level
reduced igg levels
hyperplasia of parotid gland
low voltage eeg
decreased motor nerve conduction velocity
papillomatous papule
faltering weight in infancy
duplication of the innermost 4th toe bone
fused innermost and middle bones of pinkie finger
imperfect vocal cord adduction
lack of skin coloring on chest
anterior synechiae
hypoesthesia
unstable walking, worse in the dark
coronal hypospadias
pathologic fracture
diffuse spongiform leukoencephalopathy
meningeal calcification
depressed nasal tip
deep nasolabial fold
abnormality of the distal phalanx of finger
abnormal urinary colour
nasal polyps
absent/underdeveloped head and neck of thighbone
neutrophil antibody positive
obsolete palpitations (with pheochromocytoma)
whitehead
decreased urinary glucose concentration
hepatic bridging fibrosis
anomaly of facial bones
brachydactyly
abnormality of the innermost bone of the pinkie toe
small soft spot
premature exfoliation of deciduous teeth
short fourth metacarpals
flared metaphyses of the upper limbs
ragged-red fibers
gastric ectopia
abnormality of the forehead
abnormality of the subarachnoid space
aplasia/hypoplasia of the phalanges of the 5th toe
narrow and high arched palate
large protruding ears
cone-shaped end part of the middle bone of the 3rd toe
small jaw
cranial asymmetry
absence of front tooth
speckled calcifications in the end part of the innermost bone of the 2nd toe
skin tag in front of the ear
epidermolytic hyperkeratosis
long opening between the eyelids
anomaly of nasal cartilage
peroneal muscle atrophy
y-shaped central long bones of hand
trimethylaminuria
extramedullary hematopoiesis
impairment of visual pursuit
acroosteolysis of distal phalanges (feet)
abnormality of dental structure
fragmentation of the metacarpal epiphyses
bullet-shaped distal phalanx of the 5th toe
anomaly of the palatine bone
abnormality of lymphocytes
hallux rigidus
temporal cortical atrophy
bulbar muscle weakness
trident abnormality
missing sinuses
increased total iron binding capacity
hypoplastic/small middle phalanx of the 3rd toe
abnormality of the clit
abnormality of the middle bone of 3rd toe
stroke-like episodes
ureteral obstruction
aplastic nails
abnormal vertebral column
foot macrodactyly
abnormality of the abdominal organs
bilateral blockage of the rear opening of the nasal cavity
broad alveolar processes of jaw
prolonged bleeding time
partial/complete duplication of the 1st metacarpal
abdominal discomfort
muscle biopsy shows dystrophic changes
onset at birth
melanocytic nevus
cone-shaped epiphyses of the 2nd finger
abnormality of the upper jaw sinus
unilateral renal hypoplasia
best corrected visual acuity 1.2 logmar
glycosuria
extremely elevated creatine phosphokinase
pancreatic calcification
hypoplastic patellae
recurrent streptococcus pneumoniae infections
fissured tongue
large for gestational age
abnormality of shape of permanent molar
absent/underdeveloped 3rd toe
decreased fertility in males
facial angiofibromas
oral idiopathic leukoplakia
impaired spermatogenesis
distal limb weakness
decreased activity of the pyruvate dehydrogenase complex
angulated humerus
webbed first and second toes
supraauricular sinus
enlarged alveolar ridge
upward slanting of palpebral fissures
macule
underdevelopment of alveolar ridge
triangular end part of the innermost bone of the 3rd toe
testicular teratoma
steatocystoma multiplex
mobitz i atrioventricular block
hypoplastic toes
kidney cortical adenoma
increased spleen size
transitional atrioventricular canal defect
neoplasia of the scrotum
enlarged epiphyses of the 5th toe
telangiectasia on the cheeks
osteoarthritis of hip
hand muscle wasting, bilateral
single lineage myelodysplasia
absent/small middle bone of the middle finger
blocked retinal artery
contractures of the joints of the upper limbs
short second metatarsal
abnormal muscle fiber alpha dystroglycan
epidermal hyperkeratosis
cutis gyrata of palms and soles
abnormality of corneal thickness
eeg: localized slow activity
myelitis
gonadal neoplasm
abnormality of vomer bone
decreased amplitude of sensory action potentials
obsolete paraganglioma-related cranial nerve palsy
prominent frontal sinuses
dissecting aortic aneurysm
thickening of the lateral border of the scapula
receptive language delay
absent/underdeveloped 4th long bone of hand
severe periodontitis
congenital ductus arteriosus aneurysm
unaided visual acuity 0.4 logmar
infantile encephalopathy
generalized muscle weakness due to defect at the neuromuscular junction
hypergonadotropic hypogonadism
abnormality of speed of hair growth
jejunoileal ulceration
abnormality of the skull
partial duplication of the proximal phalanx of the 4th toe
temporomandibular joint popping sound
panniculitis
abnormality of cranial nerve xi
hepatoblastoma
coronal cleft vertebrae
hypogonadism, female
sclerosis of 2nd finger phalanx
deformity of the mandible
hypotrophic nose
increased total bilirubin
cup-shaped ears
holes in parietal bones
absent eustachian tube
anaplastic large-cell lymphoma
deficiency of n-acetylglucosamine-1-phosphotransferase
absent skin pigmentation
paronychia
susceptibility to coronavirus 229e
gingival bleeding
postprandial hyperglycemia
reduced/absent deep tendon reflexes
early eruption of adult teeth
abnormality of the outermost bone of the pinkie toe
depletion of components of the alternative complement pathway
cervical vertebral dysplasia
complete duplication of the middle bone of the 3rd toe
absent epiphyses of the 4th toe
philtrum with midline ridge
abnormality of the epiphyses of the hand
cleft of gum ridge
high erythrocyte sedimentation rate
narrowing of coronary artery
abnormality of monovalent inorganic cation homeostasis
anterior beaking of vertebral bodies
complete duplication of the outermost pinky finger bone
biconvex vertebral bodies
flared distal tibial metaphysis
patchy sclerosis of hallux phalanx
juvenile onset
high-tone sensorineural deafness
abnormality of macrophages
preterm delivery
small end part of the outermost bone of the big toe
eclampsia
abnormality of the epiphysis of the distal phalanx of the 4th finger
horizontal ribs
constricted visual fields
triangular epiphysis of the proximal phalanx of the thumb
bloody mucoid diarrhoea
narrow femoral neck
long hairs growing from helix of pinna
pancreatic islet cell adenoma
abnormality of the 5th metacarpal
thick eyelashes
bullet-shaped innermost bone of the big toe
conical cornea
renal collecting system anomalies
aplasia/hypoplasia of the brainstem
iridolenticular adhesions
neoplasm of the adrenal gland
triphalangeal thumb
small end part of the middle bone of the pinky finger
dermatographism
large teeth
deformity of the palatine bone
agenesis of the small intestine
duplication of the proximal phalanx of the fourth toe
retinal vascular proliferation
neoplasm of the central nervous system
intrapartum fever
gallbladder perforation
abnormal shape of hindbrain
abnormality of nasalis muscle
bitot spots of the conjunctiva
irregular epiphysis of the proximal phalanx of the 3rd finger
high blood cystathionine levels
agenesis of primary lower central incisor
overgrowth of facial skeleton
hyperthreoninemia
absent/underdeveloped 3rd long bone of hand
white spot lesions of tooth enamel
renal pelvic diverticulum
broad toe
osteosclerosis of the radius
broad 4th toe
lung infiltrates
facial palsy caused by excessive growth of facial bones
liver vascular malformations
recurrent staphylococcus aureus infections
decreased adocbl
prominent scrotal raphe
onychogryposis
numerous moles
sciatica
low birth weight
small for gestational age
thinned hair
reduced plasminogen activator inhibitor 1 antigen
radial head dislocation
corticomedullary renal cysts
cerebellar calcifications
frontal protruberance
deviation of the 3rd toe
abnormality involving the diaphyses of the limbs
emg: myotonic discharges
thick inner surface of the frontal bone
failure to thrive in infancy
narrow forehead
hypoplasia of hypophseal fossa
abnormality of cerebral artery
impaired reabsorption of chloride
electronegative erg
abnormality of subcortical white matter
partial absence of upper eyelashes
abnormality of the mediastinum
tarsal fusion
symphalangism of the hand
thinning and bulging of posterior fossa bones
bradyopsia
ossification defect of skull
metacarpal pseudoepiphyses
abnormal shape of limb bone
wide foot
hypertrophy of the upper limb
anomaly of the rectum
atrioventricular dissociation
lobeless ears
polyneuropathy
absent bones of the upper limbs
curved outermost bone of the index finger
abnormality of immune system physiology
bullous congenital ichthyosiform erythroderma
neurogenic bladder
diminished motivation
abnormality of hair curl pattern
'molar tooth sign' on brain imaging'
punctate vertebral calcifications
partial diaphragmatic absence of pericardium
globozoospermia
sclerotic foci in forearm bones
abnormality of the oligodendroglia
reduced brain creatine level by magnetic resonance spectroscopy
speckled calcifications in the end part of the innermost bone of the big toe
abnormality of the bronchi
peribronchovascular interstitial thickening
tall vertebral bodies
curved middle bone of pinkie toe
congenital heart disease
copper deficiency
deformity of the lacrimal bone
solitary splenic abscess
age-dependent penetrance
global systolic dysfunction
delayed closure of fontanelles
dermatitis, atopic
increased laxity of fingers
bilateral cleft lip
supraventricular tachycardia with a concealed accessory pathway on the left free wall
abnormality of the cerebral arteries
drooping nasal tip
narrowing of pulmonic valve
irregular wide portion of elbow bone
lattice retinal degeneration
bifid penis
autosomal dominant form
abnormality of the urinary system physiology
intestinal blockage
limited wrist extension
macular atrophy
missing upper incisor
elevated serum long-chain fatty acids
absence of lutheran antigen on erythrocytes
abnormality of the oval window
hageman factor deficiency
abnormality of the posterior segment of the eye
triangular end part of the middle bone of the index finger
chronic rhinitis
neoplasm of the rectum
congenital extraocular muscle anomaly
congenital symmetrical palmoplantar keratosis
duplication of the outermost bone of the little toe
abnormal liver parenchyma morphology
abnormality of the scaphoid
triangular shaped outermost little finger bone
delayed thromboplastin generation
pseudoepiphyses of the distal phalanges of the hand
duplication of the outermost bone of the fifth toe
scleral thickening
high plasma glutamine
abnormality of eye movement
absent ear
duplication of long bones of foot
abnormality of medial pterygoid muscle
aplasia/hypoplasia of the colon
fibular hypoplasia
overgrowth of calvarial bones
triangular epiphysis of the distal phalanx of the 2nd toe
recurrent opportunistic infections
marked sclerosis of skull base
wedge shaped head
urethrovaginal fistulae
hip dislocation
text blindness
facial edema
sandal gap between first and second toes
corneal stromal edema
abnormal ishihara plate test
leg hyperreflexia
thyroid crisis
curved middle finger bonds of the hand
abnormality of bone calcification of skull
abnormal alpha-beta t cell morphology
macrogyria
ventral hernia
modic type iii vertebral endplate changes
lower limb deformities
cone-shaped end part of long bone
abnormal maturation of the end part of a bone
retrogenia
punctate keratitis
cone-shaped end part of thumb outermost long bone
obsolete fused epiphysis of terminal phalanx of the middle finger
cone-shaped end part of the middle long bone of the index finger
pulmonary artery hypoplasia
large epiphysis of proximal index finger phalanx
mesomelia of the upper limbs
meningioma
microvesicular hepatic steatosis
short fibulae
flexion contracture of finger
predisposition to infections
anaemia
increased laxity of ankles
hooded upper eyelid
malformation of tip of nose
abnormal morphology of the radius
short finger
stapedial abnormalities
abnormal rib ossification
abnormality of head or neck
bullet-shaped 5th toe phalanx
overfolded helices
symphalangism of the proximal and middle phalanges of the 5th finger
morbus kienboeck
cone-shaped end part of thumb innermost long bone
broad proximal phalanx of the 3rd finger
progressive visual loss
central retinal artery occlusion
aplasia/hypoplasia of the phalanges of the hallux
congenital, generalized hypertrichosis
cigarette-paper scars
increased inflammatory response
purpura
atrophy of the dentate nucleus
abnormal isoelectric focusing of serum transferrin, type ii pattern
ivory epiphysis of the proximal phalanx of the little finger
bullet-shaped bones of the little toe
curved innermost thumb bone
speckled calcifications in the end part of the middle bone of the 3rd toe
absence of cd4+cd25+ t regulatory cells
psychomotor regression in infants
abnormality of the cerebrum
cutaneous syndactyly of fingers
duplication of phalanx of hallux
univentricular heart with absent left sided atrioventricular connection
jaw hyporeflexia
abnormal sternal ossification
cutaneous atresia of the external auditory canal
abnormal t cell morphology
glomus jugulare tumor
caliceal dilatation
bilateral vocal cord paralysis
recurrent hand flapping
distal sensory loss
posterior encephalocele
abnormal urinary odor
abnormal nerve conduction study
slender humerus
limitation of elbow extension
eeg with parietal focal spike waves
hypoplasia of the frontal bone
abnormality of digestive system physiology
emg: repetitive nerve stimulation abnormality
peripheral traction retinal detachment
ivory epiphyses of the phalanges of the hand
hypoplastic fifth toenail
astatic seizures
abnormality of anterior ethmoidal artery
curved phalanges of the 3rd finger
leukokeratosis
equinovalgus deformity
abnormal sense of smell
rhomboid or triangular shaped fifth finger middle phalanx
absence of deciduous maxillary lateral incisor
globe elongated
laboratory abnormality
vertical menton crease
exaggerated median lingual furrow
fragmentation of end part of the middle bone of the ring finger
small intestine tumor
absent fibulae
aplasia/hypoplasia of palatine uvula
uvula bifida
bracket shaped end part of the middle bone of the little finger
increased width of skull
supernumerary spleens
myopathy
vitamin b9 deficiency
abnormality of the proximal phalanx of the 3rd finger
severe postnatal failure to thrive
hypoglycemic seizures
abnormality of the ulnar epiphyses
motor developmental delay
cytoid bodies
broad pinkie finger bones
recurrent bronchitis
abnormality of enteric neuron morphology
increased bone density of forearm bones
foot acroosteolysis
abnormality of the gluteal musculature
absent/underdeveloped muscles of extremities
absent epiphyses of the 4th finger
short body and ramus of mandible
otosclerosis
episodic ammonia intoxication
bracket shaped end part of the thumb bone
dermatological manifestations of systemic disorders
abnormality of dental shape
polys of nose
malformation of the upper jaw bones
gastric hypertrophy
abnormality of fatty-acid metabolism
hypoplastic/small proximal phalanx of the 5th toe
hypoplasia of the abdominal wall musculature
spinal cord tumor
reduced hemoglobin a
bronchiectasis
abnormality of the greater sacrosciatic notch
papillary renal cell carcinoma type 1
papillary renal cell carcinoma type 2
abnormal cervical myelogram
pure red cell aplasia
oligospermia
anterior flaring of ribs
acth-dependent hypercortisolemia
anterior concavity of thoracic vertebrae
noninsulin dependent diabetes mellitus
centralized sarcomeric nuclei
abnormality of the parathyroid gland
acute hepatitis
unaided visual acuity 0.2 logmar
complete duplication of the outermost bone of the big toe
rib cupping
depressed nasal alae
partial duplication of the middle phalanx of the 5th finger
short hallux
perseveration
lewy bodies
hypoplastic or missing ribs
photophobia
fragmentation of the epiphysis of the distal phalanx of the 3rd finger
abnormality of bone marrow cell morphology
reduced number of teeth
complete left sided absence of pericardium
localized area of pendulous skin
enlarged epiphysis of the middle phalanx of the 5th finger
livedo reticularis
hemangioblastoma, sporadic cerebellar
decreased projection of mandible
long eyebrows
lower labial cleft
rhizo-meso-acromelic limb shortening
diaphragmatic sequestrum
cone-shaped end part of the little finger bones
decreased length of nasal bridge
abnormality of proximal thumb phalanx
ovarian papillary adenocarcinoma
restricted elbow extension
delayed fusion of bipartite calcanei
broad middle bone of little finger
universal alopecia
polydactyly affecting the 4th finger
irregular hyperpigmentation of back
glioblastoma multiforme
morphological abnormality of the posterior semicircular canal
orthostatic hypotension due to autonomic dysfunction
abnormality of the lymph nodes
seizures, generalized, tonic-clonic
bicarbonate-wasting renal tubular acidosis
severely close sighted
broad epiphyseal plates of the upper limbs
craniodiaphyseal osteosclerosis
thyrotoxicosis with diffuse goitre
enlarged epiphysis of the distal phalanx of the 2nd finger
shrinking of half of face
aplasia/hypoplasia of the musculature of the thigh
elevated csf dopamine level
chiari i malformation
partial agenesis of corpus callosum
fragmentation of the end part of the middle bone of the 4th toe
triangular end part of the middle bone of the middle finger
abnormal erection
malformation of skull shape
manic
sclerodactyly
birthmark
absent end part of fingers
decreased size of the primary palate bone
absence of palatine bone formation
partial duplication of the innermost bone of the little toe
acute esophageal necrosis
bracket shaped end part of big toe bone
decreased levels of alpha-fetoprotein
increased width of permanent upper central incisor
common cheilitis
sperm tail anomaly
tendon rupture
symphalangism of the proximal phalanx of the 2nd toe with the 2nd metatarsal
wide face
periosteal new bone of humeral diaphysis
facial shape compression
wrist flexion deformity
curved 3rd toe phalanx
small upper eyelid
depressed nasal bridge
stenosis of foramen magnum
webbed skin of fingers
calcification of the auricular cartilage
hypotrichosis of upper eyelashes
pituitary acidophilic stem cell adenoma
failure of development of cupid's bow
synostosis of carpal bones
abnormality of shape of incisor
blurred vision
stool soiling
pruritus
bullet-shaped bones of the 4th toe
unilateral multifocal epileptiform discharges
coagulation abnormalities
inflammatory myopathy
abnormality of wide portion of outermost thighbone
aplasia/hypoplasia of the fibula
incomplete partition of the cochlea type i
easy bruising
abnormality of the end part of the index finger bone
thinning and bulging of the posterior fossa bones
dyschezia
abnormality on pulmonary function testing
abnormality of the pinna
obsolete tachycardia (with pheochromocytoma)
deformity of the neck
ureteral reflux
sysnostosis of all cranial sutures
increased muscle fatiguability
cold-induced muscle cramps
acute aspiration pneumonia
absent/underdeveloped outermost pinky toe bone
absent/underdeveloped toe
esophageal leukoplakia
flat head
epicanthus palpebralis
postaxial polydactyly of feet
absent ankle reflexes
disproportionately long fibula
fusion involving the 1st long bone of foot
abnormality of the calcaneus
boop
abnormal shape of bones of the lower limbs
xanthomatosis
narrow, high-arched palate
brisk deep tendon reflexes
facial-lingual fasciculations
nasolabial crease, prominent
hyperossification of skull base
suprascapular nerve entrapment
dense calcifications in the cerebellar dentate nucleus
hypotrophic condylar process of mandible
hypocalcaemia
abnormal shape of posterior head
dermatoglyphic variants
contracture of the metatarsophalangeal joint of the 4th toe
abnormality of the 2nd long bone of foot
abnormality of the innermost bone little finger
abnormality of the external ear
cardiac total anomalous pulmonary venous connection
abnormal position of hair whorl
osteopetrosis
aplasia/hypoplasia of the thumb
abnormal foveal morphology on macular oct
poor memory
إرث
سيادة
صفة متنحية
صفة متنحية
سيادة
عدوى الجهاز البولي
التهاب المثانة
إلحاح بولي
رتج
احتباس البول
احتباس البول
سلس البول
فتق أربي
التهاب الموثة
فقد النطاف
ضمور الخصية
التهاب البربخ
قيلة مائية
إحليل تحتي
إحليل تحتي
خنوثة
تضيق
جزر مثاني حالبي
اعتلال الكلية
كلية
قصور كلوي
سحاف الكلية
بيلة بروتينية
طول البشر
التهاب كبيبات الكلى
متلازمة كلوية
بوال
اعتلال الكلية
داء الكلية متعددة الكيسات
التهاب الكلى
ورم عضلي أملس رحمي
غزارة الطمث
تكيس المبيض
هبوط المهبل
انقطاع الحيض
متلازمة تكيس المبايض
رتق المهبل
فلح الشفة والحنك
لهاة
فلح الشفة والحنك
فلح الشفة والحنك
التهاب اللسان
تضخم اللثة
التهاب اللثة
استسقاء الرأس
التهاب الجيوب
صغر الرأس
التهاب الجيوب
تسنم الرأس
تسنم الرأس
التهاب الخشاء
فرط التباعد
طنين
تصلب الأذن الوسطى
صمم
صمم تام
التهاب الأذن الوسطى
التهاب الأذن الوسطى
التهاب الأذن الوسطى
رعاف
أنوسميا
انفتال العنق
امراض العين
شبكية
لابؤرية
حول
الحول الإنسي
اعتلال الشبكية
خوص
التهاب القرنية
التهاب الجفن
ماء أزرق
ضعف البصر
عمى
باعد الموقين
تدلي الجفن
التهاب الملتحمة
التهاب الشبكية الصباغي
عدسة
الساد
جحوظ العين
غياب القزحية
قرنية
مد البصر
انفصال الشبكية
حسر
حثل المخروطية
عمى الألوان
عمى الألوان
التهاب العنبية
جسامة المقلة
قرنية مخروطية
الحول الإنسي
ضعف البصر
عمى
نزيف شبكية العين
عتمة
التهاب الشبكية الصباغي
ثلامة
شلل في عضلات العين
شلل في عضلات العين
عتمة
تنكس بقعي
نقص تنسج العصب البصري
ثلامة
رهاب الضوء
تقبض الحدقة
ضعف البصر
عمى
التهاب الغدة الدمعية
انطواء جفني
زغللة العين
انتفاخ حول المحجر
رأرأة
تشنج الجفن
غمش
ازدواج الرؤية
شتر خارجي
شبكية
عشى
تسوس سني
أسنان ولادية
التهاب دواعم السن
اضطراب نفسي
ذهان
سأم
تقلقل
اضطراب الشخصية الحدي
اكتئاب
اضطراب اكتئابي
توحد
عدوان
اضطراب وسواسي قهري
ذهان
خرف
اضطرابات نمائية شاملة
طيف التوحد
فترة انتباه
تهيجية
هلوسة
قلق
لامبالاة
إيذاء النفس
وهام
تأخر لغوي
التغيرات في الشخصية
اضطراب نقص الانتباه مع فرط النشاط
فرط الحركة
رهاب الخلاء
استبصار
اعتلال الأعصاب المحيطية
صدر مقعر
صدر جؤجؤي
تثدي الرجل
فتق الحجاب الحاجز
انقطاع الحيض
حصاة كلوية
عقم
بول دموي
حصاة كلوية
اعتلال الكلية بالأيج a
قلة النطاف
عنانة
السكري
مرض الدرقية
قصور الدرقية
فرط ضغط الدم
نقص هرمون النمو
قصور الدريقات
سكري النمط الثاني
اختلال تحمل الجلوكوز
فرط الدرقية
نقص هرمون النمو
فرط الدريقات
ضخامة الأطراف
قصور الكظر
ضعف الغدة الدرقية الخلقي
دراق
مقاومة الإنسولين
فرط الألدوستيرونية
انقطاع الحيض
فرط برولاكتين الدم
قصور النخامية
التهاب الغدة الدرقية لهاشيموتو
مرض السكري الكاذب
ندرة الطموث
سبحة الرخد
كلاس الغضاريف
تخلخل العظم
يرقان
زيادة التصبغ
جفاف الجلد
زرقة
فرط التقرن
إكزيما
التهاب الجلد
جلد مرمري
حبرة
استسقاء
تهدل الجلد
فرط التعرق
تعرق
كدمة
فرفرية
شحوب
طفحية
حكة
ورم أصفر
حساسية للضوء
رهاب الشمس
فرط الشعر
شعرانية
نقص التصبغ
ورم شحمي
احمرار الجلد
برص
شرى
ورم وعائي دموي
حمامى
بهاق
التهاب الجلد التأتبي
ورم وعائي كهفي
امتلاء دموي
التهاب الجلد المثي
الحمرة
تجعدات صغيرة
حصاة صفراوية
التهاب المرارة
انتباذ العدسة
وذمة حليمة العصب البصري
بقع بروشفيلد
التهاب العنبية
اعتلال الشبكية بفرط ضغط الدم
التهاب القرنية و الملتحمة الجاف
جفاف الملتحمة
التباين في لون العين
التهاب العنبية
أتلام وعائية
برص
لويحة صفراء
انحراف الأهداب
حثل القرنية
انتباذ العدسة
الحول الإنسي
تنكس المشيمية
يد
ارتفاق الأصابع
متلازمة مارفان
تعجر الأصابع
غباء
نوبة
صرع
رنح
رنح مخيخي
خمول
تشنج
رتة
نعاس
اضطرابات النمو المحددة
خرف
خزل شقي
خلل أداء تنموي
اعتلال الأعصاب المتعدد
توتر عضلي
توترية
هبوط الضغط الانتصابي
التهاب السحايا
ارتباك
سكتة
اعتلال دماغي
باركنسونية
خلل التوتر
متلازمة داندي ووكر
وهن عضلي
عجز التعلم
خلل التوتر
استسقاء الرأس
رعاش
نزف مخي
يرقان نووي
اندماج مقدم الدماغ
تعظم الدروز الباكر
التهاب مفاصل
التهاب المفاصل الروماتويدي
عيوب بلورية
العيوب الخطية
خلع الورك
فصال
خلل التنسج الوركي الخلقي
تيبس المفصل
مرض الكبد
تشمع الكبد
تشمع الكبد
ركود صفراوي
كبد دهني
تنكس دهني
سرطانة الخلية الكبدية
تنكس دهني
فرط ضغط الدم البابي
تنكس دهني
حمض نووي للمتقدرات
ميتوكندريون
طفرة
الفسيفساء الجينية
نمش
فشل النمو
تنشئة الطفل
فشل النمو
وزن الولادة
سمنة
وزن ولادة منخفض
عملقة الجنين
استسقاء بطني
الصدر البرميلي
استسقاء سلوي
فرط نشاط قشر الكظر
رأرأة
فشل المبيض المبكر
صلع
تقعر الأظفار
لين الحنجرة
بحة الصوت
بحة الصوت
ولادة مبكرة
مجيء مقعدي
عيب الحاجز البطيني
انسدال الصمام التاجي
قصور القلب
رباعية فالو
اعتلال عضلة القلب
اعتلال عضلة القلب الضخامي
تضخم القلب
تضيق رئوي
قناة شريانية مفتوحة
قناة شريانية
اعتلال عضلة القلب التوسعي
موت القلب المفاجئ
مرض القلب الرئوي
تسرع القلب
تضيق الصمام الأبهري
قلب يميني
قلس التاجي
متلازمة كيو تي الطويلة
نوبة قلبية
قصور الأبهر
بطء القلب
رجفان بطيني
تورساد دي بوانت
تضخم البطين الأيمن
مرض القلب التاجي
إحصار أذيني بطيني
تضيق الأبهر
ذبحة صدرية
انتباذ القلب
توقف القلب
ورم المتوسطة
انصباب تاموري
التهاب التامور
تدلي
شفاني
الورم السحائي
قصور القلب
تضخم البطين الأيسر
تضخم البطين
الساد
متلازمة وولف -باركنسون -وايت
شلل دماغي
تضيق الصمام التاجي
اضطراب حركة
اعتلال عضلة القلب المقيد
تشوه شرياني وريدي
خثار
التهاب البنكرياس
تلين العظام
بنكرياس حلقي
التهاب البنكرياس الحاد
احتقان الأنف
تضخم الطحال
انعدام الطحال
قدم
قدم مسطحة
استسقاء جنيني
تقرح حول ظفري
وكعة
فقدان الوزن
نقرس
قلة الصفيحات
قلة الخلايا المتعادلة
قلة الكريات الشاملة
فقر الدم الانحلالي
قلة الكريات البيض
قلة اللمفاويات
فقر الدم الضخم الأرومات
فقر الدم الانحلالي بالمناعة الذاتية
فقر الدم الناجم عن عوز الحديد
أهبة نزفية
فقر الدم السوي الكريات
كثرة كريات الدم الحمر
فقر الدم
خثار
ابيضاض الدم
خلية محببة
فقر الدم اللاتنسجي
قصور كلوي حاد
تضيق الشريان الكلوي
فقر الدم الانحلالي باعتلال الأوعية الدقيقة
ساركوما
حماض
حماض أيضي
فواق
نقص سكر الدم
ورم عظمي
تجفاف
حمى
فرط الحرارة
حركة رقصية نصفية
فرط كيتون الجسم
حماض نبيبي كلوي
قلاء
قلاء تنفسي
حماض كيتوني سكري
سمنة
كرش
خفقان
تضخم الطحال
فرفرية قليلة الصفيحات مجهولة السبب
كثرة الكريات البيض
التهاب القولون التقرحي
داء كرون
فصيمة كروية
اعوجاج المفاصل الخلقي المتعدد
نقرس
أمراض الجهاز العصبي الوسطى
تقيؤ
إسهال
عسر البلع
غثيان
إمساك
ارتجاع معدي مريئي
تضيق البواب
تصلب الجلد
حساسية الحليب
سوء الامتصاص
تضيق الشرج
ألم بطني
إسهال
تدلي المستقيم
فتق حجابي
داء الأمعاء الالتهابي
فقدان الشهية
دوالي مريئية
متلازمة زولينجر إيليسون
انخفاض الحرارة الشقي
ضمور الدماغ
صلابة
توتر عضلي
رنح
نوبة توترية رمعية
رقاص
صداع نصفي
أورة
مرض تنفسي
نقص التنسج
ذات الرئة
فرط ضغط الدم الرئوي
ضيق النفس
التهاب القصبات المزمن
نفاخ رئوي
داء الانسداد الرئوي المزمن
ربو
التهاب الجنبة
انقطاع التنفس
نفث الدم
استرواح الصدر
استرواح الصدر
شعبة هوائية
قصبة رئيسية يمنى
قصبة ثالثية
قصبة فصية
توسع القصبات
متلازمة فار
نزف تحت العنكبوتية
سكتة
فرط حمض يوريك الدم
فرط كالسيوم البول
فرط بوتاسيوم الدم
بيلة هوموسيستينية
تنترج الدم
نزف داخل القحف
وذمة دماغية
فونوفوبيا
كثرة الخلايا البدينة
بلاغرا
بري بري
فقر دم نقص فيتامين بي 12
فيتامين ب2
انصباب جنبي
انصمام رئوي
تليف رئوي
نقص فيتامين سي
شعر
قلة البول
ورم الغدة الزعترية
ورم أرومي جنبي تنفسي
ثعلبة
التهاب الصلبة
التهاب ظاهر الصلبة
انتفاخ حول المحجر
خرف
نقيصة معرفية
إعاقة النمو
نزف هضمي
تضيق الشريان السباتي
تقيؤ دموي
تغوط أسود
تضخم القولون الخلقي
ورم سرطاوي
خلل التوتر
شلل رباعي
الكمنة العابرة
ضمور شحمي
مريء باريت
سلائل أنفية
التهاب الشغاف
أشقر
ناسور حول الشرج
ثعلبة شاملة
بهق
ثعلبة ذكرية الشكل
صلع
ازدواج القضيب
وذمة الرئة
إرجاج
مقدمات الارتعاج
مقدمات الارتعاج
بكم
خزل شقي
عسر الطمث
تشوه آرنولد خياري
سرطان المبيض
التهاب العضل
صداع
دوار
دوخة
رعاش
انعدام الدماغ
نوبة نقص تروية عابرة
التهاب المريء
نعاس
قيلة مثانية
دراق جحوظي
التهاب الغدة الدرقية
سكري النمط الأول
التهاب العصب البصري
صرع جزئي
التهاب العصب البصري
فقدان الذاكرة
نسيان
التهاب الهلل
ألم عصب ثلاثي التوائم
حبسة
التهاب الغضروف
اضطراب النوم
هلوسة
نوبة حموية
حبسة
ورم الغدة اللعابية
التهاب الدماغ
صرع جزئي
شلل سفلي
ندبة
العمى القشري
اندفاعية
إيذاء النفس
سنسنة مشقوقة
مرض جلدي
أهبة التخثر
نهام عصبي
سنسنة مشقوقة
عسر الحساب
ألم صدر
شلل رباعي
سرطان المريء
انخماص الرئة
فصام
تعجر الأصابع
غنغرينا
خلل الوظائف المستقلة
وهن عضلي
التهاب الغشاء الزليلي
سنسنة مشقوقة
غلوبيولين القري
منعكس
اعتلال دماغي كبدي
أرق
فرط النوم
الهايبركينيزيا
فتق
التهاب الخصية
رنح نخاعي مخيخي
إنتان
انفتال الخصية
بخر فموي
مرض ألزهايمر
ضغط داخل القحف
التهاب الشفة
ثر اللبن
عصبون
عوائم العين
ورم أرومي دبقي متعدد الأشكال
صدمة الحساسية
حلمات زائدة
بنكرياس حلقي
مرض قلبي خلقي
تعذر الارتخاء المريئي
زحار
شلل المعدة
انفتال
التهاب المعدة الضموري
التهاب القولون
التهاب الغشاء البطني المصلي
تقيؤ
قرحة هضمية
انسداد معوي
قرحة هضمية
سلس البراز
داء بطني
تشمع المرارة الاولي
تشمع المرارة الاولي
انخفاض ضغط الدم
أم الدم
دوالي وريدية
تصلب عصيدي
تسلخ الأبهر
خثار وريدي عميق
التهاب وعائي
تصلب شرياني
متلازمة بود كياري
تسلخ الأبهر
جنف
خلل تنسج عظمي غضروفي
خجل
ورم
علم الأورام
سرطان
ورم لمفي
ورم القواتم
ورم أرومي كلوي
ورم جنيب العقدة العصبية
ساركوما عظمية
سرطان الخلية القاعدية
تعظم الدروز الباكر
ثقبة جدارية
تضخم العقد اللمفية
نقص المناعة
ذئبة حمامية شاملة
صداف
كساح الأطفال
تلين العظام
التهاب العظم والنقي
الكسر المرضي
فصال
قصبة هوائية
عدوى الجهاز التنفسي السفلي
عدوى الجهاز التنفسي العلوي
تسرع التنفس
نقص التهوية
انحلال العظم
اعوجاج المفاصل الخلقي المتعدد
اعوجاج المفاصل الخلقي المتعدد
حداب
ذيل
خلع الورك
ألم مفصلي
تضخم العقد اللمفية
الورم السحائي
سرطان الخلية الحرشفية
ورم ميلانيني
سرطان المثانة
متلازمة خلل التنسج النقوي
ضيق النفس
فرط التنفس
ورم أرومي كبدي
ورم أرومي نخاعي
ورم بطاني عصبي
ورم الغدة النخامية
سرطان البنكرياس
سرطان الكبد
سرطانة الخلية الكبدية
نقص بوتاسيوم الدم
نقص كالسيوم الدم
نقص صوديوم الدم
بيليروبين
فرط فوسفاتاز الدم
تحدب قطني زائد
ظهر منحني
حداب
دمج الفقرات
ورم حبيبي
مناعة ذاتية
مرض مناعي ذاتي
سرطان الثدي
سرطان القولون
ورم الخلايا البدائية العصبية
فرط كالسيوم الدم
نقص ألبيومين الدم
فرط سكر الدم
نقص بروتين الدم
فرط شحميات الدم
التهاب مفاصل إنتاني
تحليل البول
عسر شحميات الدم
فرط كوليسترول الدم
فرط بيلة حمض اليوريك
حساسية الأنف
اعتلال عضلي
انحلال الربيدات
ضمور عضلي
العامل الخامس
فرط صوديوم الدم
فرط تيروزين الدم
قرحة تناسلية
العقم عند الرجل
اعتلال خثري
يرقان وليدي
سنسنة مشقوقة
انزلاق الفقار
انحلال الفقار
ظهر منحني
ألم عضلي
علامة جاور
شد عضلي
تكهف النخاع
مذل
داء السلائل
عمى الألوان
آلام الظهر
آلام أسفل الظهر
التهاب الأوعية الصغيرة في الجلد
ذمة مخاطية أمام الظنبوب
حطاطة
حلقة كايزر-فلايشر
مرض جلدي
مرض جلدي
ثؤلول
مرض جلدي
بوليبات كولونية
شلل
إعاقة
التهاب كبدي
قزامة
التهاب كبدي
التهاب كبدي
فرفرية شونلاين هينوخ
كثرة الخلايا البدينة
ألم عضلات
سوء التغذية العضلي
متلازمة أضداد الفوسفوليبيد
بيلة الثلاثي ميثيل امين
خلية رغوية
عمر البدء
كتف مجنحة
وهن عضلي
صرير الأسنان
صدفية
مرض الكلى المزمن
معدل وفيات الفترة المحيطة بالولادة
إملاص
معدل وفيات الفترة المحيطة بالولادة
بروز الفك العلوي
اضطراب نظم قلبي
نقص غاما غلوبولين الدم
متلازمة البطن البرقوقية
سوء التغذية
فقدان الشهية
قرحة هضمية
عقي
انحراف حاجز الأنف
عرج متقطع
خثار
عوز المناعة المشترك الشديد
نقص غاما غلوبولين الدم
متلازمة كروزن
كثرة الكريات الحمر الكروية
فشل كبدي حاد
التهاب القصبات المزمن
فرط الشعر
رفرفة أذينية
تسرع القلب فوق البطيني
اضطرابات نظم دقات القلب البطيني
رجفان أذيني
تسرع القلب فوق البطيني
التهاب كبدي
عدم تحمل اللاكتوز
ابيضاض الدم النقوي الحاد
بيلة هيمغلوبينية انتيابية ليلية
العامل الثاني عشر
تصلب عصيدي
خثار وريدي
أم الدم الأبهرية
توصيلة شريانية وريدية
مرض الشريان المحيطي
أم الدم الأبهرية البطنية
فصال
رجفان أذيني
ركبة
داء أورمون
ملوية بوابية
متلازمة بورهاف
إسهال
التهاب معدة مزمن
رتق القناة الصفراوية
تدمي المفصل
التهاب المعدة
بوليبات كولونية
إجهاض تلقائي
تضيق الشريان السباتي
خثرة
قلة اللمفاويات
فقر الدم
ابيضاض الدم النقوي المزمن
مرض فالدنشتروم
فقر الدم
تخثر منتثر داخل الأوعية
اضطرابات تكاثرية لمفية
مرض تكاثر نقوي
ابيضاض الدم الليمفاوي المزمن
علم الدم
متلازمة انحلال الدم اليوريمي
بيلة ألكابتونية
التهاب مفصلي روماتويدي يفعي
متلازمة ليغ -كالفيه- بيرثيز
رتق القناة الصفراوية
سكري النمط الثاني
بيلة فينيولية
دراق عديد العقيدات
فرط التعرق
التهاب البنكرياس المزمن
قصبة الساق السيفية
التهاب القصبات المزمن
مرض رئوي خلالي
اضطرابات تكاثرية لمفية
التهاب الرئة الخلالي اللمفاوي
مرض رئوي خلالي
ذات الرئة
مرض رئوي ساد
توقف القلب
فشل كبدي حاد
التهاب كبدي فيروسي
يرقان وليدي
تسرع القلب فوق البطيني
انقباض بطيني سابق لأوانه
متلازمة فرط اليوزينيات
التهاب الشغاف العدوائي
ابيضاض الدم الليمفاوي الحاد
سرطان البنكرياس
ورم نقوي متعدد
سرطان الغدة الجار درقية
حثل إرب
اضطراب الدورة الشهرية
التصلب الجانبي الضموري
تصلب المايلين المنتشر
رأرأة
ضمور العضلات الشوكي
اضطراب نقص الانتباه مع فرط النشاط
فرط الحركة
تشوه آرنولد خياري
خرف
اعتلال الأعصاب المتعدد
داء موبيوس
شلل العصب الوجهي
رنح نخاعي مخيخي
ضمور العضلات الشوكي
وذمة بقعية
اضطراب ذو اتجاهين
الاضطراب المزاجي
قصور النخامية
خلل التوتر
التصلب الجانبي الضموري
صرع جزئي
خلل الحركة المتأخر
التهاب غدد عرقية قيحي
التهاب السمحاق
ضمور الجلد البقعي
التهاب الشفة
تلين مخي
سماك
برص
فرط التقرن
فرط التقرن
فرط التقرن
عمى الألوان
حدة البصر
ورم ميلانيني عنبي
نقص تنسج العصب البصري
التباين في لون العين
تنكس بقعي
عمى الألوان
سماك
تبثر
سرطان الجلد
العامل السابع
مقاومة الإنسولين
فرط الدريقات الأولي
قصور الكظر
مرض أديسون
هرمون الدريقات
فشل المبيض المبكر
قصور الكظر
العقم عند المرأة
قصور الدرقية
متلازمة ويليام
العامل العاشر
فيتامين ب6
ظفر
طنين
داء الكلية اللبي الكيسي
نخر أنبوبي حاد
ضخامة البروستات
لين الحنجرة
هلوسة سمعية
حثل شحمي خلقي متعمم
التهاب عضلي
حثل شحمي
ورم العصب السمعي
سرطان المثانة
سرطان الكلية
ورم دبقي
داء كلوي بفرط ضغط الدم
متلازمة الشريط السلوي
الخراج الشرجي
ورم مسخي
ورم كوليسترولي
سكري الحوامل
اعتلال الأعصاب المحيطية
اعتلال الأعصاب المحيطية
تفاوت الحدقتين
ورم أرومة الشبكية
إلتهاب الشفة الزاوي
التهاب اللسان
سنسنة مشقوقة
كثرة الأصابع
قلس رئوي
عيب الفوهة الأولية للحاجز الأذيني
تضيق الصمام ثلاثي الشرفات
ناسور حول الشرج
خنوثة
تعدد الخصي
أصابع القدم
فرط التنسج التوتي
تعذر القراءة
عسر القراءة
عجز القراءة
عمه
عمه الأصابع
عسر الكتابة
عمه التجسيم
عمى التعرف على الوجوه
لفظ صدوي
انقطاع النفس الانسدادي النومي
شلل سفلي
جدرة
البردة
شحاذ العين
شحاذ العين
البردة
ثؤلول معنق
ورم ليفي
شلل العصب الوجهي
ضعف وجهي
سلس بول ليلي
خلل التنسج الليفي متعدد العظام
تبكل العظام
ارتخاء الجفن
ارتخاء الجلد
ورم حبلي
ناسور شعري
ناسور
ناسور شعري
احتداد السمع
حمامى
جهاز بولي
ورم الغدة الصنوبرية
نوبات الصرع الارتخائية
عتمة وامضة
اضطراب التحدي الاعتراضي
نخر لاوعائي
الساد
فرط شحميات الدم
تصلب العظم
تصخر العظم
مرض حاد
أمراض الجهاز الهضمي
داء نشواني
قلة البول
زيادة عدد الأسنان
زيادة عدد الأسنان
تشديد
تشنج طفلي
تعذر الأداء النطقي
فرط حجم الدم
صدمة نقص حجم الدم
قرحة فموية
التهاب الجيوب
التهاب اللوزتين
حمى
متلازمة باري رومبرج
ولادة قيصرية
أوعية متقدمة
انفصال المشيمة الباكر
سرطان المريء
التوع الحديث للقرنية
توسع الحدقة
وذمة بقعية
عمى الألوان
عمى الألوان
عمى الألوان
انفصال الشبكية
ازدواج مدخل البطين الأيسر
تضيق الصمام التاجي
تضيق الصمام التاجي
نافذة أبهرية رئوية
انقطاع قوس الأبهر
متلازمة السيف الأحدب
رتق الصمام الثلاثي الشرف
متلازمة القلب المنكسر
اضطراب نظم قلبي
تسرع القلب فوق البطيني
تسرع القلب الجيبي
متلازمة العقدة الجيبية المريضة
ألدوستيرونية أولية
فرط الألدوستيرونية
سرطان الغدة النخامية
فرط الدرقية
تدمي التأمور
عرق النسا
قلة الصفيحات المحدثة بالهيبارين
تحدمية
نزيف أسفل الملتحمة
ثلاسيميا
دبيلة جنبية
التهاب القصيبات المسد لذات الرئة المنظم
التهاب القصيبات المسد
عدوى الجهاز التنفسي
التهاب القصيبات
ذات الرئة الشفطي
فقد النطاف
فقد النطاف
عسر البلع
كتوبية الجلد
تليف نقوي
جنون ارتياب
وهم سبق الرؤية
مألوف منسي
انتباذ العدسة
جلاكتوسيميا
استسقاء
ورم شحمي
الربو المحرض بالأسبرين
خلل النطق التشنجي
ورم ميلانيني عنبي
كيسة عظمية
اضطراب الشخصية
اضطراب الشخصية الحدي
اضطراب الشخصية التمثيلي
بيلة قيحية
ماء أزرق
سرطان بطانة الرحم
التهاب كبدي
ألبيومين المصل البشري
سرطان الحنجرة
التهاب العنبية
التهاب القزحية المتوسط
سرطان البروستاتا
سرطان المعدة
صدر مدمى
انعدام التلذذ
بلعمة الكريات
تسلخ الشريان السباتي
هوس نتف الشعر
الهيد بانك
قضم الظفر
ورم أرومي دبقي متعدد الأشكال
قيء مفرط حملي
لمفومة هودجكين
ورم لمفي جلدي لكريات لمفاوية تائية
ورم الخلايا الكبيرة المتحولة اللمفاوي
ورم جزيري
صداع عنقودي
التهاب الظفر الفطري
إمساخ نطفي
حمامى عقدة
تمزق الطحال
معقد مناعي
صداع التوتر
ندرة المحببات
فرط شحميات الدم
التهاب اللفافة اليوزيني
استسقاء بطني
سرطان الرأس والعنق
ألم عصبي قذالي
التهاب الحويضة والكلية
قشيعة
عمى شقي
التهاب الأنف
التهاب القصبات
التهاب قصبات حاد
شق شرجي
أرجية
مستأرج
قرحة فراش
فرط ثنائي أكسيد الكربون في الدم
نقص تأكسج الدم
تسمم بالأكسجين
إمساك
إلتهاب المشيمية في العين
متلازمة التعب المزمن
ضمور الدماغ
متلازمة تململ الساقين
صداع النوم
صداع عنقودي
تشنج طفلي
التهاب السبلة الشحمية
ورم وعائي عنكبي
ألم مزمن
الداء الزلاقي
لمفومة لا هودجكين
بول دموي
بيلة الألبومين
مرض الكلى المزمن
انسداد الوريد الشبكي المركزي
إغماء وعائي مبهمي
جيب سباتي
إغماء
خرس لاحركي
تشوه شرياني وريدي
إحصار القلب
مرض جلدي
سعال
ورم حليمي
كرش
إعاقة النمو
ربو قلبي
اختناق وليدي
قرحة القرنية
التهاب العضلة القلبية
شدة
اعتدال
قائمة مصطلحات تشريح المواضع
قائمة مصطلحات تشريح المواضع
إمساخ نطفي
دوالي الخصية
قذف مبكر
قذف متأخر
قذف متأخر
تكيس المبيض
عرض ليلي
عرض ليلي
متلازمة تسرب شعيري
عسر الجماع
تشنج عصبي مهبلي لا إرادي
خراج المخ
نوم قهري
ورم جنيب العقدة العصبية
سرطان الرحم
لمفومة بيركت
فقرة قطنية
انتباذ بطاني رحمي
قرقرة
صدمة قلبية
صدمة
التهاب الأوعية الصفراويّة
سرطان قنوات الصفراء
ألم بطني
التهاب عنق الرحم
رعاش
اكتناز قهري
لامبالاة
فرط النشاط الجنسي
قصور ذاتي
خرف دلالة الرموز
عمى إبصاري
متلازمة بود كياري
جلطة معوية
صماغ
سرطان خلية ميركل
انشقاق الشبكية
عمى شقي
عمى الشقين الأنفيين
ملحقات
انتشار
Alle
Abnormalität der Körpergröße
Abweichung von der Norm der Körpergröße in Bezug auf Alter und Geschlecht
Multizystische Nierendysplasie
Eine Multizystische Dysplasie der Niere ist charakterisiert durch mehrere Nierenzysten unterschiedlicher Größe und das Fehlen eines normalen Nierenhohlsystems. Dieser Befund ist assoziiert mit einer Atresie des Harnleiters oder des Ureterabgangs. Ausserdem ist die befallene Niere nicht funktionsfähig.
Multizystische dysplastische Niere
Multizystische Nieren
Multizystische Nierendysplasie
Vererbungsmodus
Art der Vererbung einer genetischen bedingten Erkrankung bzw. eines genetisch bedingten Merkmals.
Erbgang
Autosomal dominante Vererbung
Ein Erbgang bezogen auf Merkmale die mit einem Gene assoziiert sind, welches auf einem der Autosomen liegt . Das Merkmal manifestiert sich in heterozygoten Individuen. Im Kontext der medizinischen Genetik, ist eine autosomal dominante Erkrankung...
Autosomal dominant
Autosomal dominante Form
Autosomal dominanter Typus
Autosomal rezessive Vererbung
Ein Modus der Vererbung, der bei Merkmalen beobachtet wird, die mit einem Gen auf einem der Autosomen
Autosomal rezessiv
Autosomal rezessive Form
Anomalie der weiblichen inneren Genitalien
Eine Anomalie der weiblichen inneren Genitalien
Funktionale Abnormalität der Blase
Dysfunktion der Harnblase
Schlechte Blasenfunktion
Wiederholte Infektionen der Harntrakts
Periodisch auftretende Infektionen des Harntrakts
Harnwegsinfekt
Zystitis
Neurogene Blase
Eine Unfähigkeit, die Harnblase durch den Prozesses der Wasserlassen aufgrund einer neurologischer Zustand vollständig zu entleeren.
Harndrang
Dranginkontinenz ist das starke, plötzliche Bedürfnis zu urinieren
Überaktive blase
Hypoplasie der Gebärmutter
Unterentwickelter Uterus
Fehlbildungen der Gebärmutter
Anomalie der Blase
Eine Abnormalität der Harnblase
Blasendivertikel
Divertikel  in der Wand der Harnblase
Blasen-Divertikel
Harnverhaltung
Unfähigkeit, die Harnblase durch den Prozess des Wasserlassens vollständig zu entleeren
Erhöhter Restharn in der Blase
Erhöhter Restharn nach spontaner Blasenentleerung in der Harnblase
Nykturie
Abnorm erhöhte Produktion von Urin in der Nacht, die zu einer ungewöhnlich häufigen Harndrang führt
Nächtliche Blasenschwäche
Harnverhaltung
Schwierigkeiten beim Beginn des Prozesses des Wasserlassens.
Harninkontinenz
Verlust der Fähigkeit die Harnblase zu kontrollieren, so dass es zu unfreiwilligem Harnabgang kommt.
Blaseninkontinenz
Blasenschwäche
Incontinentia urinae
Incontinentia vesicae
Megablase
Postnatale Dilatation der Blase
Anomalie der männlichen inneren Genitalien
Eine Anomalie der männlichen inneren Genitalien
Leistenbruch
Herausragen des Inhalts der Bauchhöhle durch den Leistenkanal
Prostatitis
Das Vorhandensein einer Entzündung der Prostata
Funktionelle Anomalie der männlichen inneren Genitalien
Männlicher Hypogonadismus
Verringerte Funktion der männlichen Gonade, d.h. der Hoden
Azoospermie
Das Fehlen eines messbaren Spiegels and Spermien im Samen des Mannes.
Lageanomalie des Hodens
Hoden im Leistenkanal. Das heißt, einer oder beide Hoden fehlen im Hodensack, aufgrund eines gestörten Hodenabstiegs .
Nicht gewanderte Hoden
Hodenhochstand
Hodenatrophie
Atrophie des Hodens , welche sich durch eine Abnahme der Größe und möglicherweise durch einen Verlust der Fruchtbarkeit manifestiert
Gonadoblastom der Hoden
Das Vorhandensein eines Gonadoblastom des Hodens
Gonadoblastom bei Männern
Epididymitis
Das Vorhandensein einer Entzündung der Epididymis
Anomalie der äußeren männlichen Genitalien
Eine Anomalie der äußeren männlichen Genitalien
Uneindeutige primäre männliche Geschlechtsmerkmale
Uneindeutige primäre männliche Geschlechtsmerkmale bei Indivduen mit dem genetische Geschlecht XY
Uneindeutige primäre Geschlechtsmerkmale bei Männern
Hydrozele
Ansammlung von klarer Flüssigkeit zwischen den Schichten der Membran  rund um die Hoden.
Hydrozele
Wasserbruch
Anomalie des Hodens
Eine Anomalie des Hodens
Anomalie der Hoden
Anomalie des Penis
Männlicher Pseudohermaphroditismus
Hermaphrodismus beschriebt eine Diskrepanz zwischen der Morphologie der Gonaden und der äußeren Genitalien. Bei männlichen Pseudohermaphroditismus, ist der Genotyp männlich  und die äußeren Genitalien sind unvollständig virilisiert, mehrdeutig oder vollständige weiblich. Wenn Gonaden vorhanden sind, handelt es sich um Hoden
Epispadie
Verschiebung der Harnröhrenöffnung auf der dorsalen  Oberfläche des Penis
Langer Penis
Penis Länge von mehr als 2 Standardabweichungen über dem Mittelwert entsprechend dem Alter
Vergrößerter Penis
Peniskrümmung
Fehlen der äußeren Genitalien
Fehlen von äußeren Genitalien in einem männlichen oder weiblichen Individuum
Hypogonadotroper hypogonadismus
Hypogonadotroper Hypogonadismus ist gekennzeichnet durch eine reduzierte Funktion der Gonaden
Hypogonadismus, hypogonadotrope
Isolierte Hypogonadismus
Unterfunktion der Keimdrüsen
Anomalie des Hodensacks
Hypoplasie des Skrotums
Hypoplastischer Hodensack
Hypoplastisches Skrotum
Hypospadie
Verschiebung der Harnröhrenöffnung an der ventralen  Oberfläche des Penis
Scrotum bifidum
Mittellinienvertiefung oder -spalte des Hodensacks
Hypoplasie der männlichen äußeren Genitalien
Unterentwicklung der eines Teils oder aller männlichen äußeren Geschlechtsorgane
Hypoplastic male genitalia
Kleine männliche äußeren Genitalien
Üerineale Hypospadie
Hypospadie mit Lage der Harnröhrenöffnung in der Dammregion
Harnröhren-Atresie, männlich
Angeborene Anomalie gekennzeichnet durch Schließung oder Fehler bei der Entwicklung einer Öffnung in der Harnröhre bei Männern
Makroorchidismus
Das Vorhandensein von abnorm grossen Hoden
Große Hoden
Mikropenis
Abnormal kleiner Penis. Bei der Geburt liegt die normale Penislänge bei etwa 3 cm . Bei einem Mikropenis beträgt dies weniger als 2 bis 2,5 cm.
Kurzer Penis
Kleiner Penis
Anomalie der weiblichen äußeren Genitalien
Eine Anomalie des weiblichen äußeren Genitalien
Anormale weiblichen äußeren Genitalien
Anomalie der Klitoris
Eine Anomalie der Klitoris
Klitorishypertrophie
Vergrößerte Klitoris
Vergrößerung der Klitoris
Vergrößerte Klitoris
Prominente Klitoris
Anomalie der Schamlippen
Eine Anomalie der Schamlippen
Hypoplastische Schamlippen
Minderwuchs der äußeren Schamlippen
Hypoplasie der großen Schamlippen
Verkleinerte große Schamlippen
Klitorishyperplasie
Entwicklungs-Hypoplasie der Klitoris
Hypoplastisches Klitoris
Kleine Klitoris
Uneindeutige Genitalien, weiblich
Uneindeutigen Genitalien bei einem Individuum mit dem genetischen Geschlecht XX
Intersexualität
Ein Genitalphänotyp, der nicht deutlich einem einzigen Geschlecht zugeordnet werden kann. Uneindeutige Genitale können mit dem Prader Skala bewertet werden: Prader 0: Normal weiblichen äußeren Genitalien. Prader 1: Weiblich äußeren Genitalien mit Klitorishypertrophie. Prader 2: Klitorishypertrophie mit partiellen labialen Fusion und Bildung eines trichterförmigen Urogenitalsinus. Prader 3: Erhöhte phallische Vergrösserung. Komplette labioscrotale Fusion mit Bildung eines Urogenitalsinus mit einer einzigen Öffnung. Prader 4: Vollständige Hodenfusion mit urogenitaler Öffnung an der Basis oder am Schaft des Phallus. Prader 5: Normal männlichen äußeren Genitalien. Die Diagnose von uneindeutigen Genitalien wird bei Prader 1-4 gestellt
Fusionierte innere Schamlippen
Fusion der kleinen Schamlippen als Folge labialer Verwachsungen mit dem Ergebnis vaginaler Obstruktion
Hypoplastische inneren Schamlippen
Hypoplasie der Schamlippen
Harnröhren-Atresie, weiblich
Angeborene Anomalie gekennzeichnet durch Schließung oder Fehler bei der Entwicklung einer Öffnung in der Harnröhre bei Frauen
Harnröhren Atresie
Angeborene Anomalie gekennzeichnet durch Schließung oder Fehler bei der Entwicklung einer Öffnung in der Harnröhre
Anomalie des Harnleiters
Eine Anomalie des Harnleiters
Anomalien der Harnleiter
Harnleiterabnormalitäten
Ureterozele
Eine Ureterozele ist eine angeborene sackförmige Ausdehnung des distalen Segments des Harnleiters
Ureterstenose
Das Vorhandensein eines stenotischen, also verengten Harnleiters.
Megaureter
Die Aufblähung des Harnleiters durch Urin
Megaureter
Megaloureter
Verdopplung des Harnleiters
Eine Entwicklungsstörung bei der der Patient zwei  Harnleiter hat, die die Niere mit der Harnblase verbinden
Doppelter Harnleiter
Harnleiter dupliziert
Harnleiterduplikation
Ureterabgangsstenose
Blockade des Harnflusses aus dem Nierenbecken zum proximalen Harnleiter
Nierenduplikation
Eine angeborene Anomalie der Harnwege, wobei die Nieren dupliziert und durch zwei getrennte Nierenbeckens und Harnleiter entleert wird.
Überzählige Nieren
Vesikorenaler reflux
Abnormale  Bewegung des Urins aus der Blase in die Harnleiter oder Nieren,  in Zusammenhang mit einer Mangelhaftigkeit Klappenmechanismus am ureterovesikalen Übergang oder einer anderen Ursache
Anomalie der Nieren
Eine Anomalie der Nieren
Nephropathie
Anomalie des Genitalsystems
Eine Anomalie des Genitalsystems
Anomalie der Geschlechtsorgane
Genitalanomalie
Genitalanomalien
Genitaldefekte
Anomalie der Harnwege
Eine Anomalie der Harnwege
Harnwegsanomalie
Harnwegsabnormität
Harnwegsanomalien
Anormale Physiologie des Fortpflanzungssystems
Eine abnormale Funktion des Genitalsystems
Dupliziertes Sammelrohr
Eine Duplikation des Sammelrohrs der Niere
Nierenversagen
Eine Verringerung der Leistungsniveau der Nieren in Funktionsbereichen: 1) Konzentration von Urin, 2)Entfernung von Abfallstoffen, 3) Aufrechterhaltung des Elektrolytgleichgewichts 4)Homöostase des Blutdrucks und 5) Kalzium-Stoffwechsel
Nierenversagen
Nierenversagen im Erwachsenenalter
Hufeisenniere
Eine Verbindung der rechten und linken Niere durch einen Isthmus aus funktionierendem Nierenparenchym oder faserförmigem Gewebe, welches die Mittellinie kreuzt.
Hufeisennieren
Ektopische Niere
Ein Entwicklungsfehler, bei dem sich eine Niere an einer abnormalen anatomischen Position befindet.
Verschobene Nieren
Ektopische Nieren
Nierenektopie
Nierenhypoplasie
Hypoplasie der Nieren
Hypoplastische Nieren

Hypoplastische Niere
kleine Nieren
kleine Niere
Nephronophthise
Vorhandensein von Zysten an der Grenze  der Niere in Kombination mit tubulointerstitiellen Fibrose
Nephronophthiese bei Jugendlichen
Anomalie der Nierentubuli
Eine Anomalie der Nierentubuli
Tubulusatrophie
Das Vorhandensein von Nierentubului mit dicken, redundanten Basalmembranen. Alternativ eine Reduktion des Durchmessers der Nierentubuli um mehr als 50% im Vergleich zu den umgebenden nicht atrophischen Tubuli.
Proteinurie
Erhöhte Mengen an Protein im Urin
Anomalie des Glomerulus
Eine strukturelle Anomalie des Glomerulus
Glomerulosklerose
Anhäufung von Narbengewebe innerhalb des Glomerulus
Fokal segmentale glomerulosklerose
Hochwuchs
Eine Körperhöhe die grösser ist, entsprechend dem Alter und Geschlechternormen zu erwarten wäre
Beschleunigte lineares Wachstum
Erhöhte Körpergröße.
Erhöhtes lineares Wachstum
Glomerulonephritis
Entzündung der Nierenglomeruli
Glomrulonephritis
Nephrotisches syndrom
Ein nephrotischen Syndroms ist eine Sammlung von Befunden, die aus glomerulärer Dysfunktion mit einer Zunahme der Durchlässigkeit der glomerulären Kapillarwand resultieren und mit ausgeprägter Proteinurie einhergehen. Es umfasst mehrere Symptome, die bei verschiedenen Erkrankungen des Glomerulums  Ödeme
Nephrose
Polyurie
Eine erhöhte Rate der Urinproduktion
Erhöhte Harnausscheidung
Nierenagenesie
Nichtanlage der Niere, das heißt, das Versagen die Niere während der Embryogenese und weiteren Entwicklung zu entwickeln
Fehlende Niere
Nierenaplasie
Vergrößerte Nieren
Eine abnorm vergrößerte Niere
Große Niere
Große Nieren
Nephromegalie
Nierenvergrößerung
Nierenzyste
Ein mit Flüssigkeit gefüllter Beutel in der Niere
Zystische Nierenerkrankungen
Zystennieren
Nierenzysten
Das Vorhandensein von mehreren Zysten an der Grenze zwischen der Nierenrinde und der Medulla
Nierendysplasie
Das Vorhandensein einer Entwicklungsdysplasie der Niere
Dysplastische Nieren
Renale Adysplasie
Erhöhte Anzahl und Größe der juxtaglomerulären Zellen
Nephropathie
Eine nicht spezifische Begriff, der Erkrankung oder Schädigung der Nieren
Polyzystische Nierendysplasie
Das Vorhandensein von mehreren Zysten in beiden Nieren
Zystenniere
Proximale Tubulopathie
Dysfunktion des proximalen Tubulus. Der proximale Tubulus ist der Teil des Kanalsystems des Nephrons der Niere, der von der Bowman-Kapsel zu der Henle-Schleife führt.
Renaler Phosphatverlust
Hohe Phosphatkonzentration im Urin in Gegenwart einer Hypophosphatämie.
Phänotypische Anomalien
Eine phänotypische Anomalie
Organabnormalität
Anomalie des Urogenitalsystems
Das Vorhandensein einer Anomalie des Urogenitalsystems
Urogenitalen Anomalien
Urogenitale Erkrankungen
Urogenitale Dysplasie
Urogenitaltraktanomalien
Urogenitaltraktfehlbildung
Nephrokalzinose
Nephrokalzinose ist die Ablagerung von Calciumsalzen im Nierenparenchym.
Unilaterale Nierenagenesie
Eine einseitige Form der Agenesie der Nieren.
Einseitige Nierenagenesie
Nephritis
Die Anwesenheit von Entzündungen die die Nieren betreffen.
Dysfunktion des Nierentubulus
Beckenniere
Ein Entwicklungsfehler, bei dem sich eine Niere in einer abnormalen anatomischen Position innerhalb des Beckens befindet.
Hydronephrose
Starke Ausdehnung der Niere mit Erweiterung der Nierenbecken und Nierekelche
Renaler Salzverlust
Eine hohe Konzentration von einem oder mehreren Elektrolyten im Urin. Dies geht einher mit erniedrigten Serumkonzentrationen des betreffenden Elektrolyts
der betreffenden Elektrolyte.
Renale Salzverluste
Salzverlust, renal
Nierenkaliumverlust
HoheKaliumkonzentration im Urin, bei gleichzeitiger Hypokaliämie
Anomalie der Gebärmutter
Eine Anomalie der Gebärmutter
Gebärmutter-Anomalien
Fehlbildungen der Gebärmutter
Uterusmyom
Das Vorhandensein eines Leiomyoms der Gebärmutter
Menorrhagie
Gonadendysgenesie
Hypogonadismus bei Frauen
Verringerte Funktionalität der weiblichen Keimdrüsen, d.h. des Eierstocks
Hypogonadismus
Eine verminderte Funktionalität der Gonaden
Gespaltene Gebärmutter
Das Vorhandensein einer gespaltenen Gebärmutter
Abnormalität des Eierstocks
Eine Abnormalität des Eierstocks
Abnormalität der Eierstöcke
Ovarialzyste
Das Vorhandensein von einer oder mehrer Zysten der Eierstöcke
Zystische Anomalien der Eierstöcke
Zystische Eierstöcke
Uterusprolaps
Das Vorhandensein Uterusprolaps
Anomalie des Menstruationszyklus
Eine Abnormalität des Ovulationszyklus
Menstruationsstörungen
Amenorrhoe
Fehlen der Menstruation in einem Zeitintervall von mindestens 3 früheren Zyklen oder 6 Monaten
Anomalie der Vagina
Eine Anomalie der Vagina
Vaginale Fehlbildung
Rektovaginale fistel
Das Vorhandensein einer Fistel zwischen der Vagina und dem Rektum
Beeinträchtigung der Fruchtbarkeit
Abnormal Fruchtbarkeit
Vaginalseptum
Polyzystisches ovar-syndrom
Polyzystischer Ovar
PCO-Krankheit
Vaginalatresie
Angeborene Verschluss der Vagina oder Anhaftung der Wände der Vagina die einen Verschluß bewirkt
Eierstockgonadoblastom
Das Vorhandensein eines Gonadoblastom der Eierstöcke
Gonadoblastom, weiblich
Gonadoblastom
Das Vorliegen eines Gonadoblastom, d.h. einer Neoplasie einer Gonade., Eine Gonade besteht den Keimzellen und den Elementen des Keimstrang
Aplasie des Uterus
Eine Aplasie des Uterus
Fehlen der Gebärmutter
Gebärmutter fehlt
Anomalie des Kopfes oder Halses
Eine Anomalie des Kopfes oder Halses
Kopf-Hals-Anomalie
Abnormalität des Mundes
Eine Abnormalität des Mundes
Abnormaler Mund
Breiter Mund
Breiter Mund
Großer Mund
Makrostomie
Abnormalität der Zunge
Jegliche Abnormalitäten der Zunge
Abnorme Zunge
Zungenanomalie
Makroglossie
Erhöhte Länge und Breite der Zunge
Hyperplasie der Zunge
Hypertrophie der Zunge
Große Zunge
Zungenhypertrophie
Abnormalität der Lippe
Alle Abnormalitäten der Lippen.
Abnorme Lippe
Lippenabnormalität
Schmaler Mund
Mikrostomie
Kleiner Mund
Glossoptose
Abnormalität der Mundhöhle
Abnormalität der Mundhöhle, d.h. der Öffnung oder des Hohlraumes des Mundes
Abnormalität der Zähne
Eine Abnormalität der Zähne
Abnormales Gebiss
Abnorme Zähne
Zahnanomalien
Dentale Abnormität
Zahnanomalie
Schwere Parodontitis
Eine schwere Form der Parodontitis
Abnormalität des Zahnfleisches
Eine Abnormalität des Zahnfleisches
Anomalie der Gingiva
Gingivafibromatose
Das Vorhandensein eine Fibrose des Zahnfleisches
Mikroglossie
Eine stark verkleinerte, hypotrophe bzw. hypoplastische Zunge. Gekennzeichnet durch eine verringert Länge und Breite der Zunge.
Abnormalität des Zäpfchens
Abnormalität des Gaumens
Anomalie des Gaumen
Lippen-kiefer-gaumenspalte
Anomalie der Oberlippe
Eine Anomalie der Oberlippe
Abnormalität der Unterlippe
Eine Abnormalität der Unterlippe
Dickes Lippenrot der Unterlippe
Erhöhte Dicke der Unterlippe, was zu einem prominenten Erscheinungsbild der Unterlippe führt. Die Höhe des Lippenrots der unteren Lippe ist in der Mittellinie mehr als 2 Standardabweichungen über dem Mittelwert. Alternativ kann eine sich auch um eine scheinbar erhöhte Höhe des Lippenrots der Unterlippe in der Frontalansicht handeln .
Volle Unterlippe
Prominente Unterlippe
Dicke Unterlippe
Mehrere Vertiefungen und
oder Erhebungen an der Kante und
oder der Oberfläche der Zunge. Dies erzeugt eine unregelmäßige Oberflächenkontur.
Abnormalität der Bewegungen der Zunge
Schwierigkeiten bei Zungenbewegungen
Gespaltener weicher Gaumen
Kurze Oberlippen
Verminderte Breite der oberen Lippe
Schmaler Gaumen
Breite des Gaumens mehr als 2 Standardabweichungen unter dem Mittelwert .
Anomalie des Zungenbändchen
Eine Abnormalität des Zungenbändchens. Das ist eine kleine Schleimhautfalte, daß die die Zunge auf den Boden der Mundhöhle befestigt. Kann sich auch auf das Vorhandensein von weiteren Zungenbändchens in der Mundhöhle beziehen.
Zusätzliches Zungenbändchen
Uvula
Gespaltenes Gaumenzäpfchen
Offener Mund
Ein Gesichtsausdruck der durch einen ständig oder fast ständig geöffneten Mund gekennzeichnet ist.
Geöffneter Mund
Abnormalität der Ohrspeicheldrüse
Eine Abnormalität der Ohrspeicheldrüsen. Diese liegen im subkutane Gewebe des Gesichts  vor und unter dem Ohr. Sie reichen vom Jochbogen bis zum Kieferwinkel herunter.
Kurzes Zungenbändchen
Das Vorhandensein eines ungewöhnlich kurzen Zungenbändchens
Pierre-Robin-Sequenz
Pierre-robin-sequenz
Das Vorhandensein einer Spalte in der Mundhöhle, wobei die zwei Haupttypen Lippenspalte und Gaumenspalte sind. Bei der Lippenspalte, gibt es die angeborenen Fehler die obere und mittlere Nasenmuschel zu fusionieren, wodurch sich eine Nut oder ein Riss in der Lippe bildet. Bei Gaumenspalten handelt es sich um einen angeborenen Fehler des Gaumens korrekt zu fusionieren, wodurch eine genutete Vertiefung oder Spalt im Dach des Mundes entsteht. Spalten der Lippen- und Gaumen können einzeln oder gemeinsam erfolgen. Es vorzuziehen, jeden Defekt separat zu codieren.
Glossitis
Entzündung der Zunge
Dreieckiger Mund
Dreieckig geformter Mund
Kieferklemme
Gingivahyperplasie
Mundtrockenheit
Unfähigkeit des velopharyngealen Schließmuskels, die Nasenhöhle und die Mundhöhle während des Sprechens ausreichend zu trennen
Gerunzelte Zunge
Abnormalität des Geschmackssinns
Verringerte Geschmacksempfindung
Verringerung des Geschmacks
Zahnfleischbluten
Teleangiektasien  der Zunge
Teleangiektasien der Mundhöhle
Das Vorhandensein von Teleangiektasien in der Mundhöhle
Gingivitis
Zahnfleischentzündung
Abnormalität des Kopfes
Eine Abnormalität des Kopfes
Anomalie der Fontanellen oder Suturen
Anomalie der vorderen Fontanelle
Eine Abnormalität der vordere Fontanelle, d.h. der Schädelfontanelle, die sich am Schnittpunkt der koronalen und sagittalen Naht befindet
Hydrocephalus
Große Fontanelle
Abnormalität der Schädelgröße
Jede Abnormalität der Schädelgröße.
Trigonocephalie
Abnormalität der Nasennebenhöhlen
Sinusitis
Brachycephalie
Mikrozephalie
Occipitofrontaler  Umfang, der geringer als -3 Standardabweichungen im Vergleich zu normalen Individuen entsprechenden Alters. Alternativ auch: verringerte Größe des Schädels.
Verringerter Umfang der Schädeldecke
Verringerter Kopfumfang
Reduzierter Kopfumfang
Kleiner Schädel
Kleiner Kopf
Kleiner Kopfumfang
Progressive Mikrozephalie
Akute Sinusitis
Makrozephalie
Turmschädel
Akrozephalie
Anomalie des Warzenfortsatzes
Mastoiditis
Dolichocephalie
Anomalie des Gesichts
Eine Abnormalität des Gesichts
Abnormes Gesicht
Anomalie des Antlitzes
Anomalie der Physiognomie
Gesichtsanomalie
Langes Gesicht
Abnormalität des Unterkiefers
Retrognathie
Grobe Gesichtszüge
Gesichtsödem
Breites Gesicht
Anomalie der Augenregion
Augenanomalien
Epikanthus medialis
Erhöhte Anteil von Fettgewebe im Gesicht
Eine erhöhte Menge von subkutanem Fettgewebe im Gesicht
Anomalie des Philtrum
Eine Abnormality of the Philtrum
Abnormes Philtrum
Abnormalität des Oberlippengrübchen
Breites philtrum.
Anomalie der Stirn
Eine Anomalie der Stirn
Anomalie des Fettgewebes des Gesichts
Verlust von Gesichtsfettgewebe
Verlust der normalen Hautfettgewebe im Gesicht
Anomalie der Gesichtsmuskulatur
Eine Anomalie eines Muskels, die von der Gesichtsnerv innerviert wird
Prognathie
Anomalie des Kinns
Spitzes Kinn
Anomalie der Mittelgesicht
Anomalie des Mittelgesichtes
Rundes Gesicht
Anomalie der Orbitalregion
Hypertelorismus
Faziale Myokymie
Glattes Philtrum
Quadratgesicht
Kurzes Philtrum
Gesichtsasymmetrie
Anomalie des Oberkiefers
Eine Abnormalität des Oberkiefers
Kurzes Kinn
Prominente Supraorbitalleisten
Breite Stirn
Fliehende Stirn
Schmale Stirn
Langes Philtrum
Eine Anomalie der Gesichtsmorphologie gekennzeichnet durch eine kleine Mundöffnung und ständige Kontraktion der Lippen, so als ob der Patient pfeifen würde
Mikrognathie
Entwicklungshypoplasie des Unterkiefers
Hohe Stirn
Ein abnorm gesteigerte Höhe der Stirn
Witwenspitzen
Kleine Stirn
Das Vorhandensein einer Stirn die anormal klein ist
Anomalie der Ohrmuschel
Eine Abnormalität der Ohrmuschel
Abnorme Lage der Ohren
Eine Abnormale Lage der Ohren
Außenohr Positionsdefekt
Anomalie des Innenohrs
Eine Anomalie des Innenohrs
Innenohr-Anomalie
Tinnitus
Otosklerose
Anomalie der Ohrläppchen
Eine Anomalie der Ohrläppchen der Ohrmuschel
Abnormale Ohrläppchen
Anomalie der Ohrläppchen
Gehöranomalie
Eine Anomalie der sensorischen Wahrnehmung von Klang
Abnormales Gehör
Gehörlosigkeit
Eine Verminderung der sensorischen Wahrnehmung von Klang
Anomalie der Nase
Eine Anomalie der Nase
Tiefsitzende Ohren
Anomalie des Mittelohrs
Eine Anomalie des Mittelohrs
Akute Mittelohrentzündung
Abnormalität des Gehörgangs
Eine Abnormalität des externen Schallrohr
Gehörgang-Anomalie
Anomalie der Cochlea
Eine Abnormalität der Cochlea
Mondini-dysplasie
Anomalie der Ohrmuschel
Eine Abnormalität der Ohrmuschel, die auch als Vorhof des äußeren Ohres bezeichnet wird
Anomalie der präaurikulären Region
Kleine Ohrläppchen
Reduziertes Volumen der Ohrläppchen
Fehlende Ohrläppchen
Mittelohrentzündung
Entzündungen oder Infektionen des Mittelohrs
Chronische Mittelohrentzündung
Chronische Mittelohrentzündung
Makrotie
Anomalie der Augenschlagader
Anomalie des Knorpels
Eine Abnormalität von Knorpel
Wiederkehrende Mittelohrentzündung
Schallleitungsstörung
konduktiver Hörverlust
Hörverlust durch Schallleitungsstörung
Schallleitungsschwerhörigkeit
Leitungsschwerhörigkeit
Anomalie des Pflugscharbein
Eine Abnormalität des Pflugscharbein
Defekt des Pflugscharbein
Schallempfindungsschwerhörigkeit
Anomalie der Ganglien
Eine Anomalie des Nervenzellverbands oder einer Gruppe von Nervenzellkörpern die sich im autonomen Nervensystem befindet
Anomalie der Ganglien des peripheren Nervensystems
Eine Anomalie des Nervenzellverbands oder einer Gruppe von Nervenzellkörpern die sich im peripheren autonomen Nervensystems befindet
Anomalie des Mundbodens
Abstehende ohren
Anomalie des somatischen Nervengeflecht
Anomalie der Kaumuskulatur
Jede Anomalie der Kaumuskulatur
Anomalie der Kaumuskulatur
Knollennase
Erhöhtes Volumen und Kugelform des anteroinferioren Aspektes der Nase
Knollennasenspitze
Anomalie des peripheren Nervensystems,
Irgend eine Anomalie des Teils des Nervensystems, die sich aus den Nerven und Ganglien außerhalb des Gehirns und des Rückenmarks zusammensetzt
Anomalie der Choanen
Anomalie der Choanen
Anomalie der somatische Nervensystem
Eine Abnormalität des Teils des peripheren Nervensystems, welches assoziiert ist mit dem Empfinden von Körperbewegungen und der Skelettmuskulatur zur willentlichen Kontrolle von Körperbewegungen.
Schmale Nase
Schmaler Nasenrücken
Verringerung der Breite des Nasenrücken
Anomalie der Nasenscheidewand
Eine Anomalie der Nasenscheidewand
Kurze Nasenscheidewand
Epistaxis
Anomalie der Nasenrücken
Anomalie der Nasenwurzel
Anomalie der Hirnganglien
Eine Anomalie des Nervenzellverbands oder einer Gruppe von Nervenzellkörpern die sich im autonomen Nervensystem des Schädels befindet
Anomalie der Nasenflügel
Eine Abnormalität des Nasenflügels
Abnormalität der Nasenflügel
Unterentwickelte Nasenflügel
Breiter Nasenrücken
Breiterer Nasenrücken
Anomalie der Nasenschleimhaut
Teleangiektasien der Nasenschleimhaut
Anomalie der Nasenspitze
Eine Anomalie der Nasenspitze
Höckernase
Breite Nase
Birnenförmige Nase
Markante Nase
Dreieckige Nasenspitze
Choanalatresie
Gespaltene Nasenspitze
Flache Nase
Anosmie
Schmale Nase
Anomalie des Halses
Eine Anomalie des Halses
Kurzer Hals
Verminderte Länge des Halses
Langer Hals
Torticollis
Breiter Hals
Erhöhte Breite des Halses von Seite zu Seite.
Hygroma colli
Anomalie des Auges
Anomalie der Netzhaut
Eine Anomalie der Netzhaut
Netzhaut
Anomalie der Hornhaut
Mikrokornea
Astigmatismus
Megalokornea
Schielen
Enophthalmus
Keratitis
Hornhautentzündung
Anomalie des Augenlids
Eine Abnormalität der Augenlider
Anomalie der Fovea
Eine Anomalie der Fovea centralis, dem zentrale Bereich der Makula. Diese vermittelt das zentrale, hochauflösende Sehvermögen und enthält die größte Konzentration von Zapfenzellen in der Netzhaut
Anomalie der Augenbewegung
Blepharitis
Entzündung der Augenlider
Anomalie der Wimpern
Eine Anomalie der Wimpern
Glaukom
Anomalie der Bindehaut
Eine Anomalie der Bindehaut
Anomalie des Sehens
Blindheit
Sehbehinderung
Telekanthus
Ptosis
Konjunktivitis
Retinopathia pigmentosa
Parinaud-syndrom
Anomalie der Linse
Eine Anomalie der Linse
Katarakt
Exophthalmus
Fehlen der Tränensekretion
Fehlen von Tränen in den Augen
Fehlende Tränenflüssigkeit
Abwesenheit von Tränensekretion
Subkapsulärer Katarakt
Ein Katarakt, der den Bereich der Linse direkt unterhalb der Linsenkapsel betrifft
Subkapsuläre Katarakte
Das Vorliegen kleiner  erweiterter Blutgefäße in der Nähe der Oberfläche der Schleimhaut der Bindehaut
Anomalie der Iris
Eine Abnormalität der Iris, welche das pigmentierte Muskelgewebe zwischen der Hornhaut und der Linse ist, und welches einer Öffnung hat, die Pupille genannt wird
Aniridie
Angeborenes Fehlen der Iris
Lange Wimpern
Anormal lange Wimpern
Anophthalmie
Fehlen des Augapfels
Progressiver Sehverlust

Verminderung der Sehschärfe, progressiv
Verlust der Sehschärfe
Fortschreitendender Verlust des Sehvermögens
Progressiver Sehverlust
Progressiver Sehschärfeverlust
Progressive Sehbehinderung
Langsam fortschreitenden Sehverlust
Verlust der Sehkraft, progressiv
Sehverlust, progressiv
Hornhautkristalle
Hornhautablagerungen
Chorioretinale Anomalie
Eine Anomalie der Aderhaut und der Netzhaut
Atrophie der Aderhaut und Netzhautschichten des Fundus
Chorioretinale Verdünnung
Anomalie der Augenbrauen
Eine Anomalie der Augenbrauen
Spärliche Augenbrauen
Verringerte Dichte
Anzahl und
oder verringerter Durchmesser der Haare der Augenbraue
Epikanthus inversus
Übersichtigkeit
Eine Anomalie der Brechung gekennzeichnet durch die Fähigkeit, Objekte in der Ferne deutlich zu sehen, während die Objekte in der Nähe unscharf erscheinen
Netzhautablösung
Papillenabblassung
Eine blasse gelbe Verfärbung der Papille . Die Papille hat normalerweise einen rosa Farbton mit einer zentralen gelblichen Vertiefung
Ophthalmoplegia progressiva externa
Lähmung der äußeren Augenmuskeln
Kurzsichtigkeit
Netzhaut-Degeneration
Zapfen
Zapfen-Stäbchen-Dystrophie
Zapfen-stäbchen-dystrophie
Abnorme konjugierte Augenbewegungen
Jede Abweichung von der normalen motorischen Koordination der Augen, die für bilaterale Fixierung eines einzelnen Objekts benötigt wird.
Nicht nachweisbares Elektroretinogramm
Fehlen einer Reaktion auf die Stimulation durch Elektroretinographie
Anomalie der Farbwahrnehmung
Eine Anomalie in der Fähigkeit, zwischen Farben zu unterscheiden bzw. diese zu erkennen
Farbenfehlsichtigkeit
Farbenfehlsichtigkeit
Anomalie der Uvea
Eine Abnormalität der Uvea, der vaskuläre Schicht des Augapfels
Uveitis
Entzündung eines oder aller Abschnitte des Uvealtractus
Leukokorie
Eine abnormale weiße Reflexion der Pupille anstelle der üblichen schwarzen Reflexion
Netzhautdystrophie
Augapfelvergrößerung
Rieger-Anomalie
Fehlende Wimpern
Ein Fehlen der Wimpern
Keratokonus
Eine kegelförmige Deformität der Kornea
Atresie des Tränenkanal
Schielen
Mikrophthalmie
Ein Entwicklungsanomalie, charakterisiert durch anormale Kleinheit eines oder beider Augen
Anomalie der sakkadische Augenbewegungen
Eine Anomalie der Augenbewegung gekennzeichnet durch Beeinträchtigung von schnellen  Augenbewegungen
Blindheit
Sehbehinderung
Dicke Augenbrauen
Erhöhte Dichte
Anzahl und
oder erhöhter Durchmesser der Haare der Augenbrauen
Skotom
Retinopathia pigmentosa
Blepharophimose
Eine Abnormalität der Hornhaut durch die Ablagerung von Calcium in einem Band über der zentralen Hornhaut. Dies führt zu Sehstörungen, Fremdkörpergefühl und Augenreizungen
Anomalie des Sehnervs
Anomalie des Sehnervs
Sehnerv-Kolobom
Ein Spalt des Sehnervs, der sich nach inferior erstreckt
Kolobom
Eine Entwicklungsstörung, gekennzeichnet durch einen Spalt von einem Teil des Auges oder der okulären Adnexa
Augenkolobom
Ophthalmoplegia progressiva externa
Initial bilaterale Ptosis gefolgt von einer Begrenzung der Augenbewegungen in alle Richtungen und eine Verlangsamung der Sakkaden
Anomalie der Lederhaut
Eine Anomalie der Lederhaut
Blaue Sklera
Eine abnormale bläuliche Verfärbung der Lederhaut
Abnormalität der Augenvorderkammer
Abnormalität der vorderen Augenkammer, die der Raum des Auges ist, der sicher hinter der Hornhaut und in vor der Iris befindet
Ophthalmoparese
Ophthalmoplegie ist eine Lähmung oder Schwäche eines oder mehrerer Muskeln, die die Augenbewegungen steuern
Augenmuskelnlähmung
Schwäche der äußeren Augenbewegung
Anomalie des Ohres
Eine Anomalie des Ohres
Ohr-Anomalie
Anomalie der Stirnhaargrenze
Anomalie des Pharynx
Hypotelorismus
Ophthalmoplegie
Lähmung eines oder mehrerer Augenmuskeln, die für die Augenbewegungen zuständig sind
Skotom
Supranukleäre Blickparese
Anomalie des Periorbitalregion
Eine Abnormalität des Bereichs um die Augenhöhle des Auges liegt
Periorbitale Falten
Makuladegeneration
Degeneration der Makula lutea
Optikushypoplasie
Unterentwicklung des Sehnervs
Hypoplastisches Sehnerven
Anomalie der Aderhaut
Eine Anomalie der Aderhaut
Chorioidea
Iriskolobom
Ein Kolobom der Iris
Kolobom der Iris
Lichtscheu
Übermäßige Empfindlichkeit gegenüber Licht mit Empfindung von Beschwerden oder Schmerzen in den Augen bei Einwirkung hellen Lichts
Extreme Lichtempfindlichkeit
Lichtempfindlichkeit
Photodysphoria
Lichtbeschwerde
Anomalie des Tränensystems
Eine Abnormalität des Tränendrainagesystem, welches als Leiter für die Tränensekretion aus dem externen Auge in den Nasenraum dient
Anomalie der Pupille
Eine Anomalie der Pupille
Pupillenanomalien
Pupillenanomalie
Miosis
Anormale  Pupillenverengung
Verengte Pupillen
Pupillenverengung
Anomalie der glatten Augenfolgebewegungen
Eine Anomalie der Augenbewegung gekennzeichnet durch eine Störung der glatten Augenfolgebewegungen
Blindheit
Blindheit ist der Zustand der fehlenden visuellen Wahrnehmung, aufgrund physiologischer oder neurologischer Faktoren
Sehbehinderung
Dakryozystitis
Entzündung der Tränensäcke
Entropium
Verschwommene Sicht
Mangel an Sehschärfe was in der Unfähigkeit, feine Details zu sehen, resultiert.
Progressive supranukleäre blickparese
Eine vertikale Blickparese mit Unfähigkeit, den Blick der Augen nach unten zu lenken
Spalt im Augenlid
Eine kurze Unterbrechung des Randes des oberen oder unteren Augenlids
Anomalie der Netzhautarterien
Das Vorhandensein von einer erhöhten Anzahl von Drehungen und Wendungen der Arterien
Anomalie des Tränenflusses
Anomalie der Tränenproduktion
Abnormalität der Tränenproduktion
Verminderter Tränenfluss
Abnormal verringerter Tränenfluss, das heißt, eine verminderte Fähigkeit Tränen zu produzieren
Blaue Iriden
Ein deutlich blaue Färbung der Iris
Blaue Augenfarbe
Oberlid Kolobom
Eine kurze Unterbrechung des Randes des oberen Augenlids
Kolobom des oberen Augenlids
Oberlid Kolobome
Lange Lidspalte
Nystagmus
Blepharospasmus
Amblyopie
Anomalie der visuell evozierten Potentiale
Diplopie
Unterlid Kolobom
Eine kurze Diskontinuität der Rand des unteren Augenlids
Kolobom des unteren Augenlids
Unterlid Kolobom
Spärliche Wimpern
Verringerte Dichte
Anzahl der Wimpern
Spärliche Wimpern
Karge Wimpern
Verringerte hell- und dunkeladaptierten ERG Amplitude
Verringerte Amplitude der elektrischen Antwort bei Elektroretinographie
Vitreoretinale Degeneration
Schrittweise Beeinträchtigung des Glaskörpers und der Retina
Ektropium
Ein nach außen Drehen  oder Rotation des Augenlidrandes
Okulomotorischen Apraxie
Unfähigkeit, Objekte visuell mit kompensatorischen Kopfbewegungen zu folgen, verminderte glatte Folgebewegungen und die Aufhebung des vestibulookulären Reflexes
Apraxie des Augenlid
Peters-Anomalie
Nachtblindheit
Unfähigkeit, in der Nacht oder bei schlechten Lichtverhältnissen gut zu sehen
Schwierigkeiten mit der Nachtsicht
Nacht Blindheit
Schlechte Nachtsicht
Synophrys
Phthisis bulbi
Atrophie des Augapfels mit Blindheit und verringertem Augeninnendruck aufgrund einer im Endstadium befindlichen intraokularen Krankheit
Hypodontie
Ein Entwicklungsanomalie, gekennzeichnet durch eine geringere Anzahl von Zähnen, wobei bis zu 6 Zähne fehlen
Kariöse Zähne
Karies ist eine multifaktorielle bakterielle Infektion, die die Struktur des Zahns betrifft. Diese HPO-Klasse wird verwendet, um anormale Häufung von Karies zu beschreiben.
Zahnkaries
Anodontie
Das angeborene Fehlen aller Zähne
Nichtanlage der Zähne
Vergrößerung des oberen mittleren sekundären Schneidezahns
Anomalie des Schneidezahns
Eine Anomalie der Schneidezähne
Oligodontie
Ein Entwicklungsanomalie, gekennzeichnet durch eine geringere Anzahl von Zähnen, wobei mehr als 6 Zähne fehlen
Zahnengstand
Überlappenden Zähne in einem Kieferkamm
Taurodontie
Erhöhtes Volumen der Zahnpulpa der bleibenden Molaren
Stierzahn
Rinderzahn
Verzögerter Ausbruch der Milchzähne
Verzögerter Zahndurchbruch, welcher sich auf die Milchgebiss bezieht
Verzögerten Ausbruch von Milchzähnen
Verzögerte Zahndurchbruch der primären Zähnen
Anomalie des Zahnschmelzes
Eine Abnormalität des Zahnschmelzes
Abnormaler Zahnschmelz
Zahnschmelzanomalien
Zahnschmelzanomalie
Grauer Zahnschmelz
Eine graue Verfärbung des Zahnschmelzes
Gräulicher Zahnschmelz
Verzögerter Durchbruch der Zähne
Hypoplasie der Zähne
Entwicklungshypoplasie der Zähne
Hypoplastische Zähne
Weit auseinander liegende Zähne
Erweiterte Räume  zwischen den meisten der Zähne innerhalb eines Zahnbogens
Zahnfehlstellungen
Nichtanlage der oberen lateralen Schneidezähne
Nichtanlage von einem oder mehreren oberen lateralen Schneidezähne, was die primären und sekundären oberen lateralen Schneidezähne betrifft.
Mikrodontie
Kleine Zähne
Fehlstellung der Zähne
Anormale Ausrichtung, Positionierung und der Abstand der Zähne sind, d.h. Zahnfehlstellungen.
Muschelzähne
Diastema
Dentinogenesis imperfecta
Parodontitis
Entzündungen der Zähne
Amelogenesis imperfecta
Anomalie des Nervensystems
Eine Anomalie des Nervensystems
Verhaltensanomalie
Psychische störung
Psychose
Langeweile
Borderline-persönlichkeitsstörung
Depression
Autismus
Aggressives Verhalten
Zwangsstörung
Psychotische Episoden
Demenz
Frontotemporale demenz
Tiefgreifende entwicklungsstörung
Stereotypisches Verhalten
Enthemmung
Beeinträchtigte soziale Interaktion
Kurze Aufmerksamkeitsspanne
Schlechte Aufmerksamkeitsspanne
Reizbarkeit
Halluzination
Halluzination
Angst
Angsterkrankungen
Apathie
Selbstverletzendes Verhalten
Selbstverstümmelung
Mangel an Motivation
Wahn
Alalie
Veränderungen der Persönlichkeit
Persönlichkeitsveränderung
Aufmerksamkeitsdefizit-
Hyperaktivitätsstörung
Hyperaktivität
Agoraphobie
Mononeuropathia multiplex
Anomalie des Thorax
Anomalie des Brustbeins
Eine Anomalie des Sternum, das auch als Brustbein bekannt ist
Trichterbrust
Kielbrust
Anomalie der Brust
Eine Anomalie der Brust
Gynäkomastie
Anomalie der Rippen
Eine Anomalie der Rippe
Querrippe
Anomalie des Zwerchfell
Eine Abnormität des Diaphragmas
Zwerchfelldefekt
Zwerchfellhernie
Das Vorhandensein einer Hernie des Zwerchfells bei der Geburt
Hernia diaphragmatica
Zwerchfellhernie
Anomalie des Thymus
Anomalie des Thymus, einem Organ im oberen vorderen Teil der Brusthöhle, direkt hinter dem Brustbein. Die Hauptfunktion ist es, eine Umgebung für die T-Lymphozyten-Reifung bereitzustellen.
Thymushypoplasie
Hypoplasie des Thymus
Unterentwicklung des Thymus
Thymushypoplasie
Anomalie des Schulterblattes
Irgend eine Anomalie der Skapula, auch bekannt als das Schulterblatt bekannt.
Primäre Amenorrhoe
Nierenstein
Das Vorhandensein von Konkrementen  in den Nieren
Unfruchtbarkeit
Hämaturie
Membranoproliferative glomerulonephritis
Iga-Nephritis
Anomalie der Harnröhre
Eine Anomalie der Harnröhre, d.h. der Röhre, die die Harnblase mit der Außenseite des Körpers verbindet
Erektile Dysfunktion
Eine Anomalie der Adnexe, Gebärmutter und Vagina
Reduzierte Funktion der Keimdrüsen  mit einem Überschuss der hypophysären Gonadotropinsekretion . Dies führt zu einer verzögerten sexuellen Entwicklung und einer Wachstumsverzögerung.
Anomalie des Citratzyklus
Eine Abnormalität des Tricarbonsäurezyklus
Anomalie des endokrinen Systems
Diabetes mellitus
Anomalie der Schilddrüse
Eine Anomalie der Schilddrüse
Hypothyreose
Arterielle hypertonie
Pubertas tarda
Wachstumshormonmangel
Pubertas praecox
Anomalie der Nebenschilddrüse
Eine Anomalie der Nebenschilddrüse
Hypoparathyreoidismus
Glukoseintoleranz
Anomalie der Nebennieren
Hyperthyreose
Wachstumshormonmangel
Adrenogenitales syndrom
Hyperinsulinämie
Erhöhter Insulinspiegel
Hyperparathyreoidismus
Akromegalie
Nebennierenrindeninsuffizienz
Anomalie des Renin-Angiotensin-System
Eine Abnormalität des Renin-Angiotensin-System
Anomalie der Nebennierenrinde
Angeborene hypothyreose
Pseudohypoparathyreoidismus
Struma
Schilddrüsenadenom
Insulinresistenz
Hyperaldosteronismus
Anomalie der Hypothalamus-Hypophysen-Achse
Sekundärer Hyperparathyreoidismus
Sekundärem Hyperparathyreoidismus, bezieht sich auf die Produktion eines höher als normalen Spiegels von Parathyroidhormon bei gleichzeitiger Hypokalzämie
Beeinträchtigung der Fruchtbarkeit bei Frauen
Verminderte Fruchtbarkeit bei Frauen
Amenorrhoe
Prolaktin Überschuss
Die Anwesenheit von abnorm erhöhten Prolaktinwerten im Blut. Prolaktin ist ein Peptidhormon, welches von der Hypophyse produziert wird. Prolaktin spielt während der Schwangerschaft eine Rolle bei der Entwicklung der Brust und in der Stillzeit spielt
Hyperprolaktinämie
Hypophyseninsuffizienz
Hashimoto-thyreoiditis
Eine chronische Schilddrüsenentzündung vom Autoimmuntyp. Die Schilddrüsenentzündung ist mit Hypothyreose assoziiert.
Diabetes insipidus
Episodischer Bluthochdruck
Oligomenorrhoe
Insulinresistenter Diabetes mellitus in der Pubertät
11 Rippenpaare
Vorhandensein von nur 11 Rippenpaaren
Kurzes Brustbein
Hypoplastisches Schulterblatt
Unterentwickeltes Schulterblatt
Querrippe
Rippen mit reduziertem Durchmesser
Schlanke Rippen
Prominentes Brustbein
Breiten Rippen
Erhöhte Breite der Rippen
Breite Rippen
Deformierter Brustkorb
Fehlbildung des Brustkorbs
Schalenförmige Rippen
Breite, konkave Rippenenden
Horizontale Rippen
Anomalie des Schlüsselbeins
Eine Abnormalität der Schlüsselbeine.
Abnormale Schlüsselbeine
Lange Schlüsselbeine
Erhöhte Länge der Schlüsselbeine
Längliche Schlüsselbeine
Halsrippen
Gabelrippe
Ein Gabelrippe bezieht sich auf die Spaltung des sternalen Endes einer Rippe . Gespaltene Rippen sind in der Regel asymptomatisch, und werden oft zufällig durch Röntgen-Thorax entdeckt
Kurze Schlüsselbeine
Verkürzte Schlüsselbeine
Rippenexostosen
Sprengel-Anomalie
Sprengel-deformität
Erhöhte Breite  der Schlüsselbeine
Schulterblattexostose
Anomalie des kostochondralen Kreuzung
Fehlende Rippen
Ein Entwicklungsanomalie mit Fehlen von einer oder mehrerer Rippen
Verringerte Rippenzahl
Breites und konkaves hinteres Rippenende
Anomalie des Skelettsystems
Eine Anomalie des Skelettsystems
Skelettanomalien
Anomalien des Skeletts
Abnormität der Wirbelsäule
Eine Abnormität der Wirbelsäule.
Abnorme Wirbelsäule
Abnormale Wirbelsäule
Anomalie des Rückgrats
Anomalie der Wirbelsäule
Platyspondylie
Eine abgeflachte Wirbelkörperform mit reduziertem Abstand zwischen den Wirbelendplatten
Anomalie der Skelettbildung
Anomalie des Schädels
Anomalie der hinteren Schädelgrube
Pseudogicht
Osteopenie
Osteoporose
Gm1-gangliosidose
Anomalie der Metaphysen
Anomalie der Haut
Eine Anomalie der Haut
Ikterus
Hyperpigmentierung der Haut
Hyperpigmentierung
Vierfingerfurche
Acanthosis nigricans
Café-au-lait-fleck
Trockene Haut
Sakralgrübchen
Zyanose
Hyperkeratose
Ekzem
Dermatitis
Livedo racemosa
Anhidrose
Petechie
Ektodermale dysplasie
Hydrops
Ödem
Anhidrose
Anomalie der Schweißdrüse
Eine Anomalie der Schweißdrüse
Mal de meleda
Cutis-laxa-syndrom
Runzlige, redundante, unelastische und schlaffe Haut
Schlaffe Haut
Überdehnbare Haut
Ein Zustand, bei dem die Haut über das normale Maß hinaus gedehnt werden und anschliessend dann in seine Ausgangsposition zurückkehrt.
Hyperelastische Haut
Hauthyperelastizität
Haut-Überstreckbarkeit
Stretchbare Haut
Hyperhidrose
Abnormal übermäßiges Schwitzen
Schwitzen
Vermehrtes Schwitzen
Id-Reaktion
Weiche Haut
Subjektiver Eindruck der Erhöhung der Weichheit der Haut bei Palpation.
Samtige Haut
samtige Textur der Haut
Anfälligkeit für Blutergüsse
Ekchymose
Purpura
Blässe
Ungewöhnlich blasse Haut
Blassheit
Hereditäre palmoplantarkeratose
Abnorme Verdickung der Haut der Handflächen und der Fußsohlen
Atypische Vernarbung der Haut
Atypisch vernarbte Haut.
Effloreszenz
Exanthem
Juckreiz
Xanthom
Xanthome
Hautlichtempfindlichkeit
Lichtempfindlichkeit der Haut
Melanozytärer Nävus
Eine ovale und runde, farbige  Läsion. Typischerweise ist ein melanozytärer Nävus weniger als 6 mm im Durchmesser, kann aber auch wesentlich kleiner oder größer sein
Kapillares Hämangiom des Gesichts
Sommersprossen der Achseln
Das Vorhandensein iner erhöhten Anzahl von Sommersprossen in der Achselregion . Sommensprossen sind kleine kreisförmige Flecken auf der Haut, die dunkler als die umgebende Haut und durch Ablagerungen von Melanin gekennzeichnet sind.
Hypertrichose
Hypertrichose ist ein erhöhtes Haarwachstum, welches in abnormer Mengen oder an abnormer Lage auftritt
Pyodermie
Jede Manifestation einer Hautkrankheit die mit der Produktion von Eiter verbunden ist.
Anomalie der Pigmentierung der Haut
Eine Abnormalität der Pigmentierung der Haut
Fehlpigmentierungen
Abnorme Pigmentierung der Haut
Anomalie der Pigmentierung
Pigmentveränderungen
Pigmentäre Hautveränderungen
Pigmentanomalie
Anomalie des Unterhautfettgewebe
Vermindertes subkutanes Fettgewebe
Lymphödem
Dermatologische Manifestationen systemischer Erkrankungen
Hypotrichose
Angeborener Mangel an Haarwachstum
Angeborene Hypotrichose
Hypotrichose, infantil
Deutliche Hypotrichose
Hirsutismus
Abnorm erhöhter Haarwuchs im Bezug auf ein männliches Muster der Körperbehaarung.
Anhäufung von Melanosomen in Melanozyten
Teleangiektasie
Teleangiektasien sind kleine erweiterte Blutgefäße in der Nähe der Oberfläche der Haut oder den Schleimhäuten. Sie haben einen Durchmesser zwischen 0,5 und 1 Millimeter. Teleangiektasien sind vor allem auf Zunge, Lippen, Mund, Finger, Gesicht, Bindehaut, Rumpf, Nagelbetten und Fingerkuppen lokalisiert.
Hypopigmentierung der Haut
Eine Reduktion der Hautfarbe verbunden mit einer Verringerung der Melaninproduktion und  Melaninablagerung
Hypopigmentierung
Diaphorese
Multiple Lipome
Lipom
Eruptive Xanthome
Angiokeratom
Definiert als eine Gefäßverletzung, die sichhistologisch als eine oder mehrere erweiterte Blutgefäße die direkt subepidermal lokalisiert sind definiert. Diese zeigen eine epidermale proliferative Reaktion. Klinisch, präsentieren sich  Angiokeratome als ein kleiner, erhobener, dunkelroter Fleck.
Ein Zustand, in dem oberflächliche Venen  auffälliger oder spürbarer als normal sind
Eine Art von Blässe, die sekundär zum Befund einer Anämie auftritt
Abnormale Handflächen-Dermatoglyphik
Erythrodermie
Eine entzündliche exfoliative Dermatitis die nahezu die gesamte Oberfläche der Haut betrifft. Erythrodermie entwickelt sich plötzlich. Eine fleckige Erythema kann verallgemeinern und sich verbreiten und so fast die gesamte Haut betreffen. Das Schuppung kann in 2-6 Tagen erscheinen und begleitet werden durch heiße, rote, trockene Haut, Unwohlsein und Fieber.
Albinismus
Eine abnormale Verringerung der Menge an Pigmentierung
Nesselsucht
Weiche, teigartige Haut
Hämangiom
Poikilodermie
Empfindliche Haut
Haut, die bereits bei minimalen Verletzungen reisst
Hautsprödigkeit
Subkutane Lipome
Das Vorhandensein von subkutanen Lipomen
Abwesende distale interphalangeale Falten
Fehlen der distalen interphalangeal Beugefurchen der Finger
Gesichtsrötung nach dem Alkoholkonsum
Parakeratose
Warfarin-induzierte Hautnekrose
Atheros eruptive Xanthome
Mehrere Pterygiua
Erythema
Prominente Kopfhautvenen
Vitiligo
Intermittierende Gelbsucht
Eine zeitweilig aussetzende Gelbsucht.
Atopisches ekzem
Eine chronisch entzündliche genetisch bedingte Erkrankung der Haut. Sie manifestiert sich durch Lichenifizierung, Abschürfungen und Krustenbildung, vor allem auf die Biegeflächen des Ellenbogen und der Knie
Kavernom
Fehlen dorsaler Hautfalten über den betroffenen Gelenken
Seborrhoisches ekzem
Feuermal
Naevus flammeus
Hypopigmentierte Flecken auf der Haut
Erysipel
Aplasia cutis congenita
Schlechte Wundheilung
Eine verminderte Fähigkeit Hautwunden zu heilen
Pterygium
Akne
Akrozyanose
Dehnungsstreifen
Neurofibrom
Neurofibromatose
Fleckige Pigmentierung
Punktierte Pigmentierung
Morbus fabry
Verdickte Haut
Gallenwege Anomalie
Eine Abnormalität der Gallenwege
Gallenstein
Cholezystitis
Das Vorhandensein von entzündlichen Veränderungen in der Gallenblase
Linsenluxation
Arcus senilis
Stauungspapille
Brushfield-spots
Das Vorhandensein weißlicher Flecken in einer ringartigen Anordnung in der Peripherie der Iris
Irisatrophie
Atrophie der Iris
Große Augen
Vergrößerung des Augapfels
Sehnervdysplasie
Das Vorliegen einer Dysplasie des Sehnervs
Uveitis
Fundus hypertonicus
Entzündung der Hornhaut und der Bindehaut
Keratoconjunctivitis sicca
Xerophthalmie
Anomalie des Augenhintergrundes
Iris-heterochromie
Iris-Heterochromie bezeichnet einen Unterschied in der Farbe der Iris der beiden Augen
Heterochromia iridis
Uveitis
Entzündung der Iris
Anomalie der Makula
Makulahypoplasie
Unterentwicklung des gelben Flecks
Retinaatrophie
Periorbitale Hyperpigmentierung
Erhöhte Pigmentierung der Haut im Bereich um die Augenhöhle
Albinismus
Eine abnormale Verringerung der Menge der Pigmentierung  der Iris und der Retina
Lebersche optikusatrophie
Xanthelasma
Keratoglobus
Anomalie der Hornhautgröße
Trichiasis
Linsenluxation
Schielen
Schwere Sehbehinderung
Deutliche Sehbehinderung
Schwer beeinträchtigtes Sehvermögen
Lentikonus
Eine seltene, angeborene Anomalie der Form der Augenlinse mit axialer  Ausbuchtung der vorderen oder hinteren Oberfläche.
Pigmentnetzhautdegeneration
Fehlbildungen der gebärmutter
Anomalie der Hand
Abnorme Hände
Hand Anomalien
Hand Deformationen
Brachydaktylie
Syndaktylie
Eine Art der Polydaktylie gekennzeichnet durch das Vorhandensein eines überzähligen Fingers oder überzähliger Finger
Polydaktylie
Polydaktylie der Hand
Anomalie der Mittelhandknochen
Eine Anomalie der Mittelhandknochen
Anomalie der Mittelhandknochen
Arachnodaktylie
Anomalie der Finger
Eine Anomalie eines Fingers
Anomlien der Finger
Breite Handballen
Bei Kindern, von 0 bis 4 Jahren, wenn die Handflächenbreite mehr als 2 Standardabweichungen über dem Mittelwert liegt. Für Kinder von 4 bis 16 Jahren wenn die Handflächenbreite über der 95. Perzentile liegt; oder die Breite der Handfläche überdimensionierte im Vergleich zur Länge der Handfläche erscheint
Breite Hand
Breite Hände
Breite Handflächen
Ektrodaktylie
Anomalie des Daumens
Eine Anomalie des Daumens
Anomalie der Daumen
Daumenmissbildung
Große Hände
Unverhältnismäßig große Hände
Große Hand
Anomalie der Handwurzelknochen
Singuläre Umbilikalarterie
Anomalie der pränatalen Entwicklung oder Geburt
Eine Anomalie des Fötus oder der Geburt des Fötus, ohne strukturelle Anomalien
Anomalie der Fingerspitzen
Trommelschlägelfinger
Anomalie des Daumenballens
Anomalie der Fingernägel
Eine Anomalie der Fingernägel
Dummheit
Krampfanfall
Epilepsie
Ataxie
Spastik
Spastische Paraplegie
Dysarthrie
Somnolenz
Entwicklungsretardierung
Hyporeflexie
Demenz
Dyspraxie
Polyneuropathie
Anomalie des Corpus callosum
Fehlen des Corpus callosum als Folge des Versagens der Entwicklung des Corpus callosum. Dies kann das Ergebnis des Ausfalls einer oder mehrerer Stufen in der Corpus callosum Entwicklung sein. Dies schliesst Zellproliferation und Migration, axonales Wachstum und Strukturierung  der Glialzellen an der Mittellinie ein.
Corpus-callosum-agenesie
Verspannung
Ein Zustand, bei dem es zu einer Erhöhung des Muskeltonus kommt, so dass Arme oder Beine, steif sind oderschwer zu bewegen sind
Tonizität
Orthostatische hypotonie
Synkope
Tetanie
Hyporeflexie
Meningitis
Entzündung der Hirnhäute
Gangstörung
Orientierung
Anomalie der Hirnnerven
Schlaganfall
Enzephalopathie
Ziehen-oppenheim-syndrom
Dystonie
Dandy-walker-fehlbildung
Dysmetrie
Anomalie des Kleinhirns
Eine Anomalie des Kleinhirns
Müdigkeit
Lernbehinderung
Dystonie
Hydrocephalus
Myoklonie
Tremor
Corpus-callosum-agenesie
Lissenzephalie
Intrazerebrale blutung
Bilirubinenzephalopathie
Hyperreflexie
Plagiozephalie
Holoprosencephalie
Kraniosynostose
Arthropathie
Arthritis
Gelenkentzündung
Rheumatoide Arthritis
Kontraktur
Gelenksluxation
Verrenkung
Arthrose
Anomalie des Hüftgelenks
Eine Anomalie des Hüftgelenks
Hüftdysplasie
Anomalie der Leber
Eine Anomalie der Leber
Zirrhose
Leberzirrhose
Cholestase
Fettleber
Leberversagen
Leberzellkarzinom
Portale Hypertension
Anomalie der Muskulatur des Hand
Heterogen
Heterogenie
Genetische Heterognie
Genetische Heterogenität
Multifaktorielle Vererbung
Mitochondriale Vererbung
Mitochondrial
Somatische Mutation
Anomalie der Wadenmuskulatur
Anomalie der Wadenmuskulatur
Hepatosplenomegalie
Eine gleichzeitige Vergrößerung der Leber und der Milz.
Anomalie der Schultergürtelmuskulatur
Anomalie der Schultermuskulatur
Anomalie der Fußmuskulatur
Eine Anomalie der Muskulatur des Fußes
Anomalie der Muskulatur der unteren Extremitäten
Anomalie des Bauches
Abdomenanomalie
Mittelfußsynostose
Anomalie des Oberschenkelmuskulatur
Somatischer Mosaik
Anomalie der Gesäßmuskulatur
Autosomal-dominante somatische Zellmutation
Anomalie der Beckengürtelmuskulatur
Anomalie der Muskulatur der oberen Gliedmaßen
Die Vervielfältigung des Mittelfußknochen
Y-chromosomal vererbt
Abnormalität des Oberarms
Anomalie der Muskulatur des oberen Armes
Syndaktylie mit Fusion der Zehen 1-3
Aplasie
Hypoplasie, die die Skelettmuskulatur involviert.
Fehlen oder Unterentwicklung der Muskulatur
Fehlen oder Unterentwicklung der Schultermuskulatur
Fehlen oder Unterentwicklung der Muskeln des Schulter
Muskelatrophie, die die Schultermuskulatur betrifft
Contiguous gene syndrome
Anomalie der Muskulatur des Becken
Familiäre Disposition
Mittelfußosteolyse
Osteolyse mit Beteiligung der Mittelfußknochen
Männlich begrenzt autosomal dominant
Sommersprossen
Glaskörperabhebung
Axenfeld-Anomalie
Hypoplasie der Handwurzelknochen
Unterentwicklung eines oder mehrerer Handwurzelknochen.
Breiter Finger
6 Mittelhandknochen
Mittelhandosteolyse
Wachstumsanomalien
Abnormales Wachstum
Gedeihstörung
Gedeihstörung  bezieht sich auf Kinder, dessen körperliches Wachstum deutlich unter der Norm liegt
Schlechte Gewichtszunahme
Postnatale Gedeihstörungen
Wachstumsverzögerung
Intrauterine Wachstumsretardierung
In utero Wachstumsverzögerung
Intrauterine Wachstumsstörungen
Intrauterine Wachstumsrestriktion
Intrauterine Wachstumsretardierung
Intrauterine Wachstumsretardierung, IUGR
Intrauterine Retardierung
Pränataler Wachstumsmangel
Pränatale Wachstumsstörungen
Pränatale Wachstumsverzögerung
Pränatales Einsetzen einer Wachstumsverzögerung
Pränatale einsetzende Wachstumsverzögerung
Adipositas
Ein Körpergewicht das stark über dem akzeptablen oder wünschenswerten Gewicht liegt. In der Regel aufgrund der Ansammlung von überschüssigem Fett im Körper. Die Standards können mit Alter, Geschlecht, genetische oder kulturellen Hintergrund variieren. In der Body-Mass-Index  ist ein BMI von mehr als 30,0 kg
m2 gilt als fettleibig, und ein BMI von mehr als 40,0 kg
m2 als krankhaft fettleibig.
Small for gestational age
Kleiner als normale Größe nach Normen bezogen auf Geschlecht und Schwangerschaftsalter. Ist als ein Gewicht definiert , dass unterhalb der 10. Perzentile für das Schwangerschaftsalter liegt.
Unverhältnismäßig große Statur
Makrosomie
Schwere Gedeihstörungen
Hemihypertrophie
Milde postnatale Wachstumsverzögerung
Gedeihstörung im Säuglingsalter
Gedeihstörung im ersten Jahr des Lebens
Nabelbruch
Omphalozele
Rektusdiastase
Aszites
Gastroschisis
Prominenter Nabel
Ungewöhnlich prominenter Nabel
Abnormalität des Brustkorbs
Eine morphologische Anomalie des Brustkorbs
Anomalie des Ileum
Anomalie des Nabels
Anomalie des Bauchnabel
Abnormaler Bauchnabel
Asymmetrie des Thorax
Mangel an Symmetrie zwischen der linken und rechten Hälfte des Brustkorbs
Pränatale Bewegungsanomalie
Eine Anomalie der Kindsbewegungen
Verminderte Kindsbewegungen
Eine anormale Reduktion der Menge oder Stärke der Kindsbewegungen

Verringerte fetale Aktivität
Verminderte Kindsbewegungen
Verringerte Bewegung im Mutterleib
Fötale Hypokinese
Reduzierte Kindsbewegungen
Verringerte Kindsbewegungen
Anomalie des Fruchtwasser
Polyhydramnion
Oligohydramnion
Anomalie der Hülle von Organen oder Organsystemen
Cushing-syndrom
Nystagmus
Vesikovaginale fistel
Ovarialinsuffizienz
Anomalie der Haare
Eine Anomalie der Haare
Glatze
Haarausfall
Anomalie des Nagels
Koilonychie
Anomalie des Kehlkopfes
Eine Anomalie des Kehlkopfes
Laryngomalazie
Rekurrensparese
Rekurrensparese
Anomalie der Stimme
Dysphonie
Dysphonie
Frühgeburt
Beckenendlage
Anomalie des Herz-Kreislauf-Systems
Anomalie der Herzmorphologie
Eine Anomalie des Herzens
Ventrikelseptumdefekt
Anomalie der Mitralklappe
Eine Anomalie der Mitralklappe
Mitralklappenprolaps
Herzinsuffizienz
Fallot-tetralogie
Abnormalität des Herzmuskels
Kardiomyopathie
Hypertrophe kardiomyopathie
Kardiomegalie
Anomalie der Pulmonalklappe
Eine Anomalie der Pulmonalklappe
Anomalie der Pulmonalklappe
Pulmonalstenose
Persistierender ductus arteriosus
Ductus arteriosus
Dilatative kardiomyopathie
Plötzlicher herztod
Anomalie der Aortenklappe
Bikuspidalität
Cor pulmonale
Tachykardie
Aortenstenose
Dextrokardie
Mitralklappeninsuffizienz
Anomalie der Herzklappen
Eine Abnormalität eines Herzklappen
Herzklappenfehler
Qt-Syndrom
Myokardinfarkt
Aortenklappeninsuffizienz
Bradykardie
Kammerflimmern
Torsade de pointes
Transposition der großen Arterien
Anomalie der Herzscheidewände
Eine Anomalie des intra-atrialen oder intraventrikulären Septums
Koronare Herzkrankheit
AV-Block
Anomalie der Aorta
Eine Anomalie der Aorta
Aortenisthmusstenose
Angina pectoris
Herzektopie
Kreislaufstillstand
Situs inversus
Mesotheliom
Anomalie der Herzbeutel
Perikarderguss
Perikarditis
Entzündung der sackartigen Hülle um das Herz
Anomalie der Trikuspidalklappe
Eine Anomalie der Trikuspidalklappe
Prolaps
Schwannom
Abnormalität des rechten Ventrikels
Eine Abnormalität des rechten Ventrikels des Herzens
Meningeom
Herzinsuffizienz
Anomalie des linken Ventrikels
Eine Abnormalität des linken Ventrikels des Herzens
Linksventrikuläre hypertrophie
LVH
Anomalie der Herzkammer
Eine Abnormalität eines Herzventrikels
Anomalie des Mesenterium
Katarakt
Wolff-Parkinson-White-syndrom
Zerebralparese
Mitralklappenstenose
Double outlet right ventricle
Anomalie der Bewegung
Arteriovenöse Malformation
Thrombose
Anomalie des Kinn-Zungen-Muskels
Eine Abnormalität eines M. genioglossus
Anomalie des Stirnfortsatz des Oberkiefers
Anomalie des Nervus glossopharyngeus
Anomalie des Kinn-Zungenbein-Muskels
Eine Abnormalität eines M. geniohyoideus
Anomalie der Bauchspeicheldrüse
Eine Anomalie der Bauchspeicheldrüse
Anomalie des Kopfhaar
Eine Anomalie der Haare des Kopfes
Anomalie der A. carotis externa
Pankreatitis
Osteomalazie
Anomalie der Siebbeinhöhle
Eine Abnormalität der Siebbeinhöhle
Pancreas anulare
Anomalie der Vena facialis
Eine Abnormalität einer Vena facialis
Akute Pankreatitis
Anomalie der Halsschlagader
Eine Anomalie einer Halsschlagader
Anomalie der Nackenblutgefäß
Eine Abnormalität eines Blutgefäßes des Halses einschließlich der Zweige des arteriellen und venösen Systemen des Halses
Anomalie der Kopfblutgefäß
Eine Abnormalität eines Blutgefäßes des Halses einschließlich der Zweige des arteriellen und venösen Systemen des Kopfes
Exokrine Pankreasinsuffizienz
Anomalie der A. dorsalis nasi
Eine Abnormalität einer A. dorsalis nasi
Anomalie des Nasenrachenraum
Anomalie des Ringknorpels
Eine Abnormalität eines Ringknorpel
Anomalie des Nasen-Rachen-Polypen
Phimose
Anomalie des Zentralarterien
Eine Abnormalität einer Zentralarterien
Anomalie des Plexus cervicalis
Anomalie der Milz
Eine Anomalie der Milz
Anomalie des Knorpels der Nasenscheidewand
Eine Abnormalität eines Knorpels des Nasenseptums
Splenomegalie
Anomalie des N. infraorbitalis
Eine Abnormalität eines N. infraorbitalis
Anomalie der Arteria infraorbitalis
Eine Anomalie einer Arteria infraorbitalis
Asplenie
Anomalie der internen Halsschlagader
Eine Abnormalität einer Drosselvene
Nebenmilz
Anomalie der A. carotis interna
Eine Abnormalität einer internen Carotisarterie
Nebenmilz
Anomalie der Arterie des Unterlippe
Eine Anomalie einer Arterie der unteren Lippe
Anomalie der untere Schilddrüsenvenen
Eine Anomalie der Funktionsweise des Vestibularapparates
Anomalie des Hypopharynx
Eine Abnormalität eines Hypopharynx
Anomalie des Zungenbeins
Eine Abnormalität des Zungenbeins
Anomalie des Nervus alveolaris inferior
Eine Abnormalität eines alveolaris inferior
Anomalie der Arteria alveolaris inferior
Eine Anomalie einer Arteria alveolaris inferior
Anomalie der grossen A. palatina
Eine Anomalie einer größeren A. palatina
Anomalie des N. auricularis magnus
Eine Abnormalität eines hyoglossus Muskel
Anomalie des Fußes
Eine Abnormalität des Skeletts des Fußes
Abnorme Morphologie des Fußes
Anomalie des Platysma
Eine Abnormalität des Platysma
Hohlfuß
Anomalie des Musculus Palatopharyngeus
Klumpfuß
Anomalie des Lachmuskel
Eine Abnormalität eines Lachmuskel
Plattfuß
Hammerzehe
Anomalie des M. mylohyoideus
Eine Abnormalität eines M. mylohyoideus
Anomalie des Musculus Palatoglossus
Eine Abnormalität eines Musculus Palatoglossus
Anomalie des M. orbicularis oris
Eine Abnormalität eines M. orbicularis oris
Anomalie des M. masseter
Eine Abnormalität eines M. masseter
Anomalie des Mentalismuskel
Eine Abnormalität eines Mentalismuskel
Anomalie des M. pterygoideus medialis
Eine Abnormalität eines M. pterygoideus medialis
Jede strukturelle Anomalie eines Herzens
Anomalie des Ramus mandibulae
Jede strukturelle Anomalie des Innenohr-Epithels
Anomalie des Musculus depressor labii inferioris
Anomalie des Musculus depressor anguli oris
Eine Abnormalität eines depressor anguli oris
Anomalie der A. ethmoidalis anterior
Anomalie des Knochenumlaufbahn des Schädels
Anomalie der Zehen
Eine Anomalie einer Zehe
Anomalie des Ganglion ciliare
Eine Abnormalität eines Ziliarganglion
Anomalie des Gesichtsarterie
Eine Abnormalität einer Gesichtsarterie, welche ein Zweige der Arteria carotis externa ist
Anomalie des M. buccinator
Eine Abnormalität eines M. buccinator
Anomalie der Epiphyse der Mittelphalanx der 2. Zehe
Anomalie des Wangenfettpolsters
Eine Abnormalität des Wangenfettpolsters
Anomalie der Epiphyse des distalen Phalanx der 2. Zehe
Anomalie des kleinen Jochbeinmuskels
Anomalie der Epiphyse des distalen Phalanx der 3. Zehe
Anomalie der Arteria angularis
Eine Anomalie des Geburtsprozesses
Anomalie der Epiphyse der proximalen Phalanx der 2. Zehe
Anomalie der Knorpel der Ohrmuschel
Eine Abnormalität der Knorpel des äußeren Ohres
Anomalie der Epiphyse der proximalen Phalanx der 3. Zehe
Anomalie des M. temporalis
Eine Abnormalität eines M. temporalis
Hydrops fetalis
Anomalie der Epiphyse der Mittelphalanx des 3. Zehe
Anomalie des Griffelfortsatz-Zungen-Muskels
Eine Abnormalität des styloglossus Muskel
Anomalie der Epiphyse der Mittelphalanx der 4. Zehe
Anomalie der Wangenschleimhaut
Eine Abnormalität der Wangenschleimhaut
Anomalie der Epiphyse des distalen Phalanx der 4. Zehe
Anomalie des grossen Jochbeinmuskels
Anomalie der Epiphyse des distalen Phalanx der 5. Zehe
Anomalie der Epiphyse der proximalen Phalanx der 4. Zehe
Anomalie der Epiphyse der Grundphalanx der 5. Zehe
Anomalie der Epiphyse der Mittelphalanx der 5. Zehe
Aplasie des Nagels
Paronychie
Fehlende Epiphyse der proximalen Phalanx des 2. Zehs
Hallux valgus
Gewichtsreduktion
Anomalie des Kiefergelenkfortsatz
Anomalie der Zungengrundmandel
Anomalie des Kiefer Symphyse
Anomalie des Kronenfortsatz des Unterkiefers
Anomalie der Schambehaarung
Anomalie des Musculus levator veli palatini
Anomalie des Levator palpebrae superioris
Anomalie des Nervus lingualis
Eine Abnormalität eines N. lingualis
Anomalie der Achselhaare
Anomalie der A. lingualis
Eine Abnormalität eines A. lingualis
Anomalie der Mittelfußknochen
Anomalie des M. pterygoideus lateralis
Anomalie des Musculus levator labii superioris
Anomalie des levator anguli oris
Anomalie der A. lacrimalis
Eine Abnormalität der Tränenarterie
Anomalie der intrinsischen Muskeln der Zunge
Eine Abnormalität eines intrinsischen Muskels der Zunge
Anomalie der seitlichen crico-arytenoid
Anomalie des Tränensacks
Eine Abnormalität eines Tränensacks
Sichelfuß
Anomalie des Hallux
Anomalie der Fußwurzelknochen
Fehlende Epiphyse der proximalen Phalanx des 3. Zehs
Gespaltener distaler Phalanx der Zehen
Gicht
Anomalie des Blutes und der blutbildenden Gewebe
Eine Abnormalität des hämatopoetischen Systems
Anomalie der Thrombozyten
Eine Anomalie der Blutplättchen
Glanzmann-thrombasthenie
Thrombozytopenie
Anomalie der Neutrophilen
Neutropenie
Panzytopenie
Anomalie der Erythrozyten
Eine Anomalie der Erythrozyten
Hämolytische anämie
Anomalie der Eosinophilen
Eosinophilie
Anomalie der Leukozyten
Eine Abnormalität der Leukozyten
Leukopenie
Klumpfuß
Fehlende Epiphyse der proximalen Phalanx des 4. Zehs
Lymphopenie
Anämie
hyperchrome, makrozytäre anämie
Autoimmunhämolytische anämie
Eisenmangelanämie
Hämorrhagische diathese
Thrombozytose
Normozytäre anämie
Polyglobulie
Anämie
Thrombose
Leukämie
Abnormalität der Granulozyten
Eine Abnormalität der Granulozyten
Abnormalität der neutrophilen Granulozyten
Anomalie der Basophilen
Granulozyt
Aplastische anämie
Akutes nierenversagen
Nierenarterienstenose
Fehlende Epiphyse der proximalen Phalanx des 5. Zehs
Akanthozyt
Anomalie der Koagulation
Eine Anormalität des Prozesses der Blutgerinnung. Das heißt, veränderte Fähigkeit oder Unfähigkeit der Blutgerinnung
Mikrozytäre anämie
Leiomyosarkom
Anomalie des Stoffwechsels
Homöostase
Sarkom
Desmoid-tumor
Azidose
Fibrosarkom
Metabolische azidose
Schluckauf
Hypoglykämie
Osteom
Dehydratation
Fieber
Hyperthermie
Hemiballismus
Ketose
Renale tubuläre azidose
Alkalose
Abnormalität der Markraum des Röhrenknochen
Respiratorische Alkalose
Metaphysäre Dysplasie
Ektrodaktylie
Senile plaques
Adipositas
Stammfettsucht
Polydipsie
Palpitation
Abnormalität der Kopfhaut
Eine Abnormalität der Kopfhaut
Anomalie der Mesangien
Anomalie der dorsoventral Musterbildung der Extremitäten
Tubulointerstitielle Anomalie
Interstitielle nephritis
Splenomegalie
Idiopathische thrombozytopenische purpura
Leukozytose
Colitis ulcerosa
Glanzmann-Thrombasthenie
Antithrombin III
Morbus Crohn
Fragmentozyt
Anomalie der Struktur-Umkehr visuell evozierten Potentiale
Anomalie der zentralen somatosensorischen evozierten Potentiale
Hyperammonämie
Anomalie der peripheren somatosensorischen evozierten Potentiale
Arthrogryposis multiplex congenita
Organoazidopathie
Ketoazidose
Gicht
Dysmorphie des Gesichts
Epiduralblutung
Oligohydramnion-Sequenz
Lewy-Körperchen
Morphologische Abnormalität des zentralen Nervensystems
Eine strukturelle Abnormalität des zentralen Nervensystems
Anomalie der Bauchorgane
Eine Abnormalität der Eingeweide des Bauches
Erbrechen
Durchfall
Dysphagie
Lafora-krankheit
Anomalie des Nucleus dentatus
Eine Anomalie des Nucleus dentatus
Übelkeit
Obstipation
Aplasie der Pyramidenbahn
Refluxösophagitis
Pylorusstenose
Sklerodermie
Kuhmilchallergie
Analatresie
Immunologische Überempfindlichkeit
Malabsorption
Beeinträchtigte Fähigkeit, ein oder mehrere Nährstoffe über den Darm zu absorbieren
Anal-Stenose
Abnorme Verengung der Afteröffnung
Bauchschmerz
Durchfall
Einseitige Lippenspalte
Anomalie der Speiseröhre
Eine Anomalie der Speiseröhre
Anomalie der Speiseröhre
Einseitige Gaumenspalte
Ösophagusatresie
Bilaterale Gaumenspalte
Schlechtes Saugen
Ein unzureichender Saugreflex, der zu Schwierigkeiten beim Stillen führt.
Beidseitiger Lippenspalte
Anomalie des Enddarms
Anomalie des Rektums
Anomalie des os naviculare pedis
Analprolaps
Vorsprung der rektalen Schleimhaut durch den Anus
Hiatushernie
Entzündung des Dickdarms
Chronisch-entzündliche darmerkrankungen
Anorexia nervosa
Krampfadern der Speiseröhre
Ösophagusvarizen
Hartnäckigen Durchfall
Ösophagusstriktur
Zollinger-ellison-syndrom
Hypothermie
Reduziert Körpertemperatur aufgrund fehlerhafter Thermoregulation
Hitzeunverträglichkeit
Die Unfähigkeit, eine komfortable Körpertemperatur bei warmem oder heißem Wetter zu erhalten
Intoleranz gegenüber Hitze und Fieber
Maligne hyperthermie
Gekrümmte lineare Grübchen unterhalb der Unterlippe
Anomalie der Glabella
Eine Anomalie der Glabella
Prominente Glabella
Kontrakturen der Gelenke der oberen Gliedmaßen
Myopathisches Gesicht
Aplasie der Phalangen der 4. Zehe
Hirnatrophie
Aplasie der Phalangen der 3. Zehe
Anomalie des Großhirns
Eine Abnormalität des Telencephalon, das auch als das Großhirn ist bekannt,
Anomalie des Telencephalon
Spastizität der unteren Extremitäten
Aplasie der Phalangen der 5. Zehe
Morphologischen Anomalie der Pyramidenbahn
Rigidität
Verspannung
Spastischer Gang
Gangstörung
Ataxie
Hypokinese
Generalisierte tonisch-klonische Anfälle
Konvulsion
Anomalie der extrapyramidalen Motorik
Extrapyramidalmotorisches system
Extrapyramidales syndrom
Chorea
Progressive zerebelläre Ataxie
Diadochokinese
Migräne
Aura
Aplasie des distalen Phalanx der 5. Zehe
Aplasie der Mittelphalanx der 5. Zehe
Corpus-callosum-agenesie
Aplasie der Mittelphalanx der 4. Zehe
Intentionstremor
Aplasie der proximalen Phalanx der 4. Zehe
Aplasie der proximalen Phalanx der 3. Zehe
Aplasie der mittleren Phalangen der Zehen
Migräne ohne Aura
Aplasie der proximalen Phalangen der 5. Zehe
Enzephalozele
Gespaltener Schädel
Cranium gespalten
Aplasie der Phalangen der Zehen
Anomalie der Atemwege
Abnormalität der oberen Atemwege
Eine Abnormalität der oberen Atemwege
Anomalie der Lunge
Eine Anomalie der Lunge
Lungenhypoplasie
Hypoplasie
Lungenentzündung
Entzündung irgendeinem Teil des Lungenparenchym
Pulmonale hypertonie
Ateminsuffizienz
Dyspnoe
Kurzatmigkeit
Chronisch obstruktive lungenerkrankung
Chronische bronchitis
Lungenemphysem
Atemnot
Asthma bronchiale
Wiederkehrende Aspirationspneumonie
Pleuritis
Entzündung der Pleura
Anomalie der Pleura
Atemstillstand
Atemstillstand
Hämoptyse
Pneumothorax
Pneumothorax
Anomalie der Bronchien
Eine Abnormalität der Menge der Bronchien
Bronchialsystem
Bronchiektasie
Vollständige Duplikation der Grundphalanx der 5. Zehe
Vollständige Duplikation der proximalen Phalanx des fünften Zehs
Restriktive respiratorische Insuffizienz
Lungeninfiltrate
Lungeninfiltration
Anomalie der Hirnkammern
Ventrikulomegalie
Eine Vergrößerung des Ventrikelsystems des Gehirns
Myoklonie
Polymikrogyrie
Abnormal obere Motoneuronen-Morphologie
Jede strukturelle Anomalie, die die oberen Motoneuronen beeinflusst
Porenzephalie
Status epilepticus
Anomalie der Basalganglien
Morbus Fahr
Eine Verkalkung der Basalganglien des Gehirns.
Fahr Krankheit
Striatodentale Kalzifikation
Subarachnoidalblutung
Arhinencephaly
Schlaganfall
Gang-Gleichgewichtsstörung
Anomalie der Balance
Anomalie des Gleichgewichts
Anomalie des Rückenmarks
Eine Abnormalität des Rückenmarks
Rückenmarkserkrankung
Tethered cord
Frontotemporale demenz
Hypophosphatämie
Eine anormal verminderte Phosphatkonzentration im Blut
Hyperurikämie
Ein ungewöhnlich hoher Harnsäurespiegel im Blut
Hypercalciurie
Erhöhtes Serum-Laktat
Hyperproteinämie
Hyperkaliämie
Hyperglycinämie
Hypertriglyceridämie
Homocystinurie
Azotämie
Sprechstörung
Klonus
Hirnblutung
Gliose
Opisthotonus
Neurodegenerative Erkrankung
Hirnödem
Apraxie
Anomalie der unteren Extremitäten
Anomalie der Gelenke der unteren Gliedmaßen
Tiefgreifende Geistige Behinderung
Tiefgreifende geistige Behinderung ist als Intelligenzquotient  unter 20 definiert
Kamptodaktylie der Finger
Verzögerte Myelinisierung des ZNS
Verzögerte Myelinisierung des Zentralnervensystems
Verzögerung bei der Myelinisierung des zentralen Nervensystems
Hyperammonämie
Eine verringerte Ammoniakkonzentration im Blut
Exzessive Tagesschläfrigkeit
Gelenkskontrakturen der Gelenke der Füße
Plexuszyste
Mastozytose
Progressive Spastik
Spastik, deren Grad mit der Zeit zunimmt
Spastik, progressiv
Anomalie der Mastzellen
Eine Anomalie der Mastzellen
Anomalie der Mastzellen
Pellagra
Abnormalität des Vitamin-B3-Stoffwechsels
Verzögerte grobmotorischen Entwicklung
Beriberi
Vitamin B12-Mangel
Vitamin B5-Mangel
Vitamin B2-Mangel
Riboflavin-Mangel
Pleuraerguss
Das Vorhandensein überschüssiger Flüssigkeit in der Pleurahöhle
Folsäuremangel
Einer verminderten Konzentration an Folsäure, die auch als Vitamin B9 bekannt ist
Vitamin B9-Mangel
Atemlähmung
Lungenembolie
Abnormalität des Vitamin-C-Stoffwechsels
Wiederkehrende Infektionen der Atemwege
Eine erhöhte Anfälligkeit für Infektionen der Atemwege, die sich durch eine Vorgeschichte von rezidivierenden Infektionen der Atemwege zeigt.
Abnormalität des Vitamin-Stoffwechsels
Eine Anomalie im Stoffwechsel eines Vitamins
Lungenfibrose
Abnormalität des Vitamin-D-Stoffwechsels
Skorbut
Grobes Haar
Haarschaft haben eine grobe Textur
Vitamin-E-Mangel
Verringerte Anzahl von Kopfhaaren pro Flächeneinheit
Vitamin D-Mangel
Pollakisurie
Verstärkter Harndrang
Weißer Schopf
Abnormalität des Vitamin-E-Stoffwechsels
Locken
Neoplasie der Harnröhre
Das Vorhandensein einer Neoplasie der Harnröhre
Feines Haar
Anurie
Dysurie
Haarfarbe
Oligurie
Leberabszess
Thymom
Neoplasie der Pleura
Tumor der Lunge
Anomalie der Phosphathomöostase
Eine Anomalie der Phosphathomöostase oder -konzentration im Körper
Weiß Augenbrauen
Weißen Wimpern
Anomalie der Calciumphosphatstoffwechsel
Entzündliche Anomalie des Auges
Entzündung des Auges, Teilen des Auges oder der Periorbitalregion
Haarausfall
alopecia areata
Skleritis
Entzündung der Sklera
Anomalie der Faszie
Eine Anomalie der Faszie
Anomalie der Supraorbitalleisten
Hernie
schenkelhernie
Demenz
Entwicklungsbeeinträchtigung
Gastrointestinale blutung
Hepatomegalie
Lebervergrößerung
Anomalie des Darms
Enteropathie
Anomalie der Vorderhirnmorphologie
Karotisstenose
Abnormalität des Dünndarms
Eine Abnormalität des Dünndarms
Meckel-divertikel
Blasenekstrophie
Anomalie des Zwölffingerdarms
Duodenalatresie
Sehnenriss
Hämatemesis
Teerstuhl
Abnormalität des Dickdarms
Kongenitales megakolon
Megakolon
Beinlängendifferenz
Diastematomyelie
Konnatale hyperekplexie
Karzinoid
Dystonie
Anomalie der neuronalen Migration
Anomalität des autonomen Nervensystems
Eine Anomalität des autonomen Nervensystems
Entzündung der Harnblase
Tetraplegie
Schwäche aller vier Gliedmaßen
Retinaler arterienverschluss
Horner-syndrom
Barrett-ösophagus
Nasenpolyp
Nasenpolypen
Endokarditis
Anomalie der Vorhaut
Paraphimose
Blond
Analfistel
Poliosis
Kamptokormie
Web-stenose
Haarausfall
Glatze
Gespaltener Penis
Diphallie
Lungenödem
Eklampsie
Rot
Haarfarbe
Präeklampsie
Trichothiodystrophie
Präeklampsie
Stummheit
Menstruationsbeschwerden
Hypokinese
Athetose
Metrorrhagie
Dribbeln
Hypersalivation
Chiari-malformation
Meige-syndrom
Ovarialkarzinom
Myositis
Kopfschmerz
Dysgerminom
Germinom
Anomalie der Schwellkörper
Vertigo
Tremor
Anenzephalie
Transitorische ischämische attacke
Ösophagitis
Entzündungen der Speiseröhre
Somnolenz
Pulmonaler sequester
Anomalie des Kleinhirnwurms
Neoplasie des Rachens
Eine Neoplasie mit Ursprung im Rachen
Neoplasie der Nebennierenrinde
Das Vorhandensein einer Neoplasie der Nebennierenrinde
Nebennierenrindenneoplasie
Larynx-Zyste
Vorhandensein einer Zyste  im Kehlkopf.
Anomalie der Nagelfarbe
Eine Anomalie der Farbe des Nagels
Anomalie der Nagelfarbe
Pigmentstörung der Nägel
Anomalie des Nucleus caudatus
Eine Anomalie des Nucleus caudatus
Neoplasien des Nebennierenmark
Das Vorhandensein einer Neoplasie im Nebennierenmark
Zystozele
Morbus basedow
Normaldruckhydrozephalus
Thyreoiditis
Entzündungen der Schilddrüse
Fortschreitende neurologischer Beeinträchtigung
Ein Tumor  der Mundhöhle
Ein Tumor  der Zunge
Kopftremor
Diabetes mellitus
diabetes typ 1
Neoplasie der Vagina
Ein Tumor  der Scheide
Neuritis nervi optici
Entzündung des Sehnervs
Herdanfälle ohne Beeinträchtigung des Bewusstseins oder der Wahrnehmung
Ein partieller Anfall, bei dem das Bewusstsein aufrechterhalten wird.
Kleinhirnzyste
Kleinhirnzysten
Retrobulbäre Optikusneuritis
Optikusneuritis, die sich in dem Abschnitt des Sehnerven hinter dem Augapfel befindet
Neuritis nervi optici
Leukoenzephalopathie
EEG-Anomalie
Amnesie
Vergessen
Anomalie der zerebralen Gefäße
Schwierigkeiten beim Gehen
Verringerte Fähigkeit zu gehen.
Gangstörung
Zellulitis
Eine bakterielle Infektion und Entzündung der Haut und Unterhautgewebe
Schreibkrampf
Trigeminusneuralgie
Aphasie
Dyskinesie
Dyskinesien
Häufiges Stürzen
Chondritis
Entzündung der Knorpel
Knorpelentzündung
Schlafstörung
Schlafstörungen
Quincke-Ödem
Hereditäres angioödem
Psychomotorische Beeinträchtigungen
Verlust von zuvor vorhandenen geistigen und motorischen Fähigkeiten
Gangstörung
Anomalie der Hirnmorphologie
Halluzination
Fieberkrampf
Hypokinese
Faszikulation
Anomalie der Sharpey Fasern
Aphasie
Enzephalitis
Enthesiopathie
Querschnittlähmung
Abnormalität der Krümmung der Hornhaut
Cavum septi pellucidi
Lipödem
Narbe
Anomalie der Pia
Eine Anomalie der Pia
Anomalie der Arachnoidea
Eine Anomalie der Arachnoidea
Arachnoidalzyste
Anomalie der Gliazellen
Eine Abnormalität einer Gliazelle
Anomalie der Astrozyten
Eine Anomalie der Astrozyten
Anomalie des Oligodendroglia
Anomalie der Mikroglia
Eine Anomalie der Mikrogliazellen. Sie werden auch als Gehirn-Makrophagen oder Hortega Zellen bekannt
Anomalie der Brustwirbelsäule
Eine Abnormalität der thorakalen Wirbelsäule
Impulsivität
Zerebrale arteriovenöse malformation
Anomalie der Lendenwirbelsäule
Eine Abnormalität der Lendenwirbelsäule
Myokymie
Anomalie des Zement des Zahns
Selbstverletzendes verhalten
Spina bifida
Leukodystrophie
Uterusruptur
Anomalie der Mittelhirnmorphologie
Gastrointestinaler stromatumor
Hautkrankheit
Thrombophilie
Histiozytose
Broca-aphasie
Anomalie der Morphologie der Epiphysen der Wirbel
Anomalie des harten Gaumens
Anomalie des weichen Gaumens
Eine Anomalie des weichen Gaumens
Bulimie
Spina bifida
Anomalie des Humeroulnargelenks
Anomalie des Oberarm-Speichen-Gelenks
Dyskalkulie
Brustschmerz
Tetraplegie
Speiseröhrenkrebs
Atelektase
Schizophrenie
Anomalie der Speichelfluss
Anomalie des Globus pallidus
Eine Anomalie des Globus pallidus
Trommelschlägelfinger
Gangrän
Anomalie des Lymphsystems
Hämobilie
Anomalie der Mandeln
Eine Anomalie der Mandeln
Lymphangiom
Anomalie der Plazenta
Sprachstörungen
Anomalie der Lymphgefäße
Synovitis
Schlechte Sprache
Chorionepitheliom
Hyperostose
Exostose
Spina bifida
Kryoglobulinämie
Reflex
Frühkindlicher reflex
Anomalie des Iliosakralgelenk
Hepatische Enzephalopathie
Prostata-Neoplasie
Schlafsucht
Torus palatinus
Fusionierte Lippen
Fehlende Trennung der oberen und unteren Lippen
Myotonie
Eine unwillkürliche und schmerzlose Verzögerung der Erschlaffung von Skelettmuskeln nach einer Kontraktion oder elektrischen Stimulation.
Verzögerte Erholung der Muskelfasern nach Kontraktion
Hyperkinese
Hernie
Hernien
Akute Leukämie
Akute Leukämien
Akantholyse
Der Verlust von interzellularen Verbindungen wie z.B. Desmosomen, was zum Verlust der Kohäsion zwischen den Keratinozyten führt.
Nikolski-Phänomen
Erhöhtes Laktat im CSF
Erhöhte Konzentration von Laktat in der Zerebrospinalflüssigkeit.
Ungewöhnlich gerade Wirbelsäule
Das Fehlen der normalen Krümmung der Wirbelsäule.
Spastik der Gesichtsmuskeln
Spastik von einem oder mehreren Muskeln, die durch den Gesichtsnerv innerviert werden.
Spastizität der Gesichtsmuskeln
Anomalie der Pyramidenbahn
Zehennagel-Dysplasie
Eine Abnormalität der Entwicklung der Fußnägel.
Dysplastische Zehennägel
Dysfunktion der oberen Motoneuronen
Orchitis
Hodenentzündung
Abnormer REM-Schlaf
Abnormaler Rapid-eye-movement Schlaf
Neoplasien des Mittelohrs
Ein Tumor  des Mittelohrs
Neoplasie des Mittelohrs
Beeinträchtigte Vibrationswahrnehmungs
Fingernagel-Dysplasie
Eine Anomalie der Entwicklung der Fingernägel
Aplasie der Bauchspeicheldrüse
Spastische paraplegie
Anomalie der periungualen Region
Eine Anomalie in der Region um die Nägel der Finger oder Zehen herum
Anomalie der weißen Hirnsubstanz
Eine Anomalie der weißen Hirnsubstanz
Koenen-tumor
Lange Finger
Spinozerebelläre ataxie
Sepsis
Hodentorsion
Mundgeruch
Alzheimer-krankheit
Naevus caeruleus
Mongolenfleck
Watschelgang
Hirndruck
Anomalie der periventrikulären weißen Substanz
Hypnagogie
Rektozele
Cheilitis
Lippenentzündung
Hypsarrhythmie
Lymphozytose
Ein Tumor  des Nagels
Kataplexie
Eine plötzlicher und vorübergehender Verlust des Muskeltonus , welcher oft von Emotionen ausgelöst wird.
Galaktorrhoe
Spontanener Fluss der Milch aus der Brust, was nicht mit einer Geburt oder Stillzeit in Verbindung steht.
Erhöhung der T-Zell Anzahl
Defizit bei Nichtwortwiederholung
Beeinträchtigte Fähigkeit, Nicht-Wort Töne zu wiederholen. Nichtwortwiederholung ist ein Maß für die kurzfristigen phonologischen Speicher
Abnormalität des Vitamin-K-Stoffwechsel
Vitamin K ist ein fettlösliches Vitamin mit einer Rolle bei der Förderung der Gerinnungskaskade
Stürzen
Rundes Ohr
Neoplasie des Dünndarms
Das Vorhandensein einer Neoplasie des Dünndarms
Verlust von Nervenzellen im zentralen Nervensystem
Neuronenverlust
Mouches volantes
Ablagerungen verschiedener Größe, Form, Konsistenz, Brechungsindex und Beweglichkeit im Glaskörper des Auges, welcher normalerweise transparent ist.
Gutartige Neoplasie des zentralen Nervensystems
Neoplasien des Dickdarms
Das Vorliegen einer Neoplasie des Dickdarms
Atrophodermia vermiculata
Folliculitis atrophicans reticulata
Atrophia maculosa varioliformis cutis
Folliculitis ulerythematosa reticulata
Atrophodermia reticulata symmetrica faciei
Unwillkürliche Beugung oder Streckung der Arme und Beine
Anomalie der Hirnrinde
Eine Anomalie der Hirnrinde
Glioblastom
Fokale kortikale dysplasie
Septo-optische dysplasie
Anaphylaxie
Aplasie der Muskulatur
Fehlen der Muskulatur
Milchleiste
fehlbildungen
Aplasie des Schenkelhalses
Aplasie des Hüftkopfes
Pancreas anulare
Herzfehler
Malrotation
Anomalie der Handfläche
Anomalie der Fußsohlenhaut
Steatorrhoe
Achalasie
Hämatochezie
Dysenterie
Anomalie des Magens
Eine Anomalie des Magens
Magenlähmung
Volvulus
Anomalie der Grösse des Augapfels
Kolitis
Anomalie der Lage des Augapfels
Anomalie des Ductus choledochus
Anomalie des Bauchfells
Eine Anomalie des Bauchfells
Peritonitis
Entzündung des Peritoneums
Gespaltener Schwertfortsatz
Schwertfortsatz gespalten
Erbrechen
Gallengangszyste
Magengeschwür
Anomalie des Schwertfortsatz
Darmverschluss
Polyphagie
Magengeschwür
Anomalie des Gefäßsystems
Eine Anomalie des Gefäßsystems
Stuhlinkontinenz
Zöliakie
Primär biliäre zirrhose
Kongenitale leberfibrose
Primär biliäre zirrhose
Arterielle hypotonie
Aneurysma
Krampfader
Sklerose eines Fingerglieds des Daumen
Sklerose der Phalangen des Daumens
Sklerose der Fußknochen
Eine Erhöhung der Knochendichte in einem oder mehreren Fußknochen. Sklerose wird normalerweise auf einem Röntgenbild als ein Bereich erhöhte Trübung detektiert
Sklerose der Knochen der Füße
Arteriosklerose
Sklerose der Zehenglieder
Sklerose der Zehenphalangen
Aortendissektion
Sklerose des 3. Zehenglieds
Sklerose des Zehenglieds der 3. Zehe
Reitende aorta
Überreitende Aorta
Dextroposition der Aorta
Sklerose des Zehenglieds der 2. Zehe
Venöse Anomalie
Eine Anomalie der Vene
Reisethrombose
Niedriger bis normaler Blutdruck
Sklerose der Mittelphalanx der 4. Zehe
Vaskulitis
Entzündung der Blutgefäße
Sklerose der Mittelphalanx der 3. Zehe
Eine Erhöhung der Knochendichte in der Mittelphalanx der dritten Zehe. Sklerose wird normalerweise auf einem Röntgenbild als ein Bereich erhöhter Trübung detektiert
Arteriosklerose
Sklerose der distalen Phalanx der 2. Zehe
Atheromatose
Sklerose der Mittelphalanx der 5. Zehe
Aneurysma einer Bauchschlagader
Sklerose der distalen Phalanx der 4. Zehe
Zerebrale Ischämie
Sklerose der distalen Phalanx der 3. Zehe
Oberflächliche Thrombophlebitis
Entzündung einer oberflächlichen Vene zusammen mit einer Venenthrombose
Sklerose der proximalen Phalanx der Großzehe
Budd-chiari-syndrom
Sklerose des distalen Phalanx der 5. Zehe
Hypertonie assoziiert mit Phäochromozytom
Eine Art von Bluthochdruck die mit Phäochromozytom assoziiert ist
Sklerose des 1. Mittelfußknochens
Periphere Thrombose
Sklerose der distalen Phalanx der Großzehe
Arteriovenöse Fisteln der Zöliakie und Mesenterialgefäße
Sklerose der mittleren Phalanx einer Zehe
Neonatale Atemnot
Atembeschwerden als Neugeborenes
Sklerose der proximalen Zehenphalanx
Anomalie der Knochenmorphologie des Beckengürtels
Wormsche Knochen
Sklerose der distalen Zehenphalanx
Aortendissektion
Anomalie der Schädelmorphologie
Skoliose
Skelettdysplasie
Anomalie der Nierenmark
Multiple epiphysäre dysplasie
Hyperästhesie
Schüchternheit
Neoplasma
Onkologie
Krebs
Malignes lymphom
Phäochromozytom
Nephroblastom
Paragangliom
Osteosarkom
Basaliom
Coxa valga
Kraniosynostose
Anomalie der Sella turcica
Anomalie der Schädeldecke
Anomalie der Stirnhöhle
Aplasie der Stirnhöhle
Aplasie der Nasennebenhöhlen
Anomalie der Schädelbasis
Anomalie des Scheitelbein
Anomalie des Hinterhauptsloch
Anomalie der Ossifikation des Schädels
Eine Anormalität des Prozesses der Verknöcherung des Schädels
Anomalie des Immunsystems
Eine Anomalie des Immunsystems
Lymphadenopathie
Selektiver immunglobulin-a-mangel
Immundefekt
Lupus erythematodes
Anomalie der Lymphknoten
Leukoplakie
Rachitis
Osteomalazie
Osteomyelitis
Pathologische Fraktur
Arthrose
Anomalie der Luftröhre
Eine Anomalie der Trachea
Luftröhrenerkrankung
Tracheomalazie
Tachypnoe
Hypoventilation
Eine Anomalie der Rhythmus oder die Tiefe der Atmung
Funktionelle Atemanomalie
Osteolyse
Arthrogryposis multiplex congenita
Arthrogryposis multiplex congenita
Kyphose
Coxa vara
Anomalie der Knochenmorphologie der Extremitäten
Anomalie der unteren Extremität
Eine Abnormalität des Beins
Anomalie der Knie
Eine Abnormalität des Kniegelenks oder umgebenden Strukturen
Genu recurvatum
Anomalie der oberen Extremitäten
Eine Abnormalität des Armes
Anomalie des Radius
Eine Anomalie des Radius
Charcot-fuß
Abnormalität des Femurs
Schwanz
Arthralgie
Aspiration
Blasenekstrophie
Lymphadenopathie
Entzündung eines Lymphknotens
Anomalie der T-Zellen
Eine Anomalie der T-Zellen
Anomalie der B-Zellen
Eine Anomalie der B-Zellen
Meningeom
Rhabdomyosarkom
Plattenepithelkarzinom
Malignes melanom
Blasenkrebs
Myelodysplastisches syndrom
Anomalie des Darmbein
Eine Abnormalität des Darmbein, die größte und obersten Knochen des Beckens
Obstruktive Schlafapnoe
Zentrale Apnoe
Apnoe die aus einer Depression der Atemzentren in der Medulla oblongata resultiert. Es besteht ein Mangel an Atemanstrengung und nicht eine Behinderung der Luftströmung.
Apnoe-Episoden durch Krankheit, Müdigkeit, Stress
Wiederkehrenden Episoden der Apnoe, die von Faktoren wie Krankheit, Müdigkeit oder Stress erzeugt werden
Dyspnoe
Episodische Tachypnoe
Episoden von sehr schneller Atmung
Hyperpnoe, episodisch
Nächtliche Hypoventilation
Atemstillstand
Abnorm erhöhte Variabilität der Größe der Wirbelkörper
Atembeschwerden
Plötzliche episodische Apnoen
Immer wiederkehrende plötzliche, schwere Apnoe, die lebensbedrohlich sein kann
Hyperventilation
Hepatoblastom
Medulloblastom
Ependymom
Das Vorhandensein eines Ependymom des zentralen Nervensystems
Schilddrüsenkarzinom
Das Vorhandensein eines Karzinoms der Schilddrüse
Leiomyosarkom
Das Vorhandensein eines Leiomyosarkom des Uterus
Hypophysenadenom
Ein gutartiger epithelialer Tumor entstanden aus intrinsischen Zellen der Adenohypophyse
Neoplasie der Bauchspeicheldrüse
Ein Tumor  der Bauchspeicheldrüse
Pankreastumor
Papilläres Schilddrüsenkarzinom
Das Vorhandensein eines papillären Adenokarzinom der Schilddrüse
Neoplasie der Leber
Ein Tumor  der Leber
Leberzellkarzinom
Leberkrebs
Nebenschilddrüsenadenom
Ein gutartiger Tumor der Nebenschilddrüse, der Hyperparathyreose verursachen kann
Nebenschilddrüsenadenomen
Embryonale Neoplasie
Hypokaliämie
Eine abnormal verminderte Kaliumkonzentration im Blut
Hypokalzämie
Eine anomal niedrige Kalziumkonzentration im Blut
Hyponatriämie
Eine anomal niedrige Natriumkonzentration im Blut
Bilirubin
Eine erhöhte Menge an Bilirubin im Blut
Hyperphosphatämie
Ein abnorm erhöhte Phosphatkonzentration im Blut
Mikrohämaturie
Generalisierte Aminoazidurie
Eine erhöhte Konzentration aller Arten von Aminosäuren im Urin
Erhöhte Lebertransaminasen
Transaminasenanstieg
Methylmalonazidurie
Myoglobinurie
Vorhandensein von Myoglobin im Urin
Hyperchlorämie
Eine erhöhte Konzentration an Chlorid im Urin
Erhöhte Ausscheidung von Chlorid
Anomalie der Chromosomensegregation
Eine Anomalie der Chromosomensegregation
Magnesiummangel
Eine abnormal verminderte Magnesiumkonzentration im Blut
Hypermagnesiämie
Ein abnorm erhöhte Magnesiumkonzentration im Blut
Ketonurie
Hoher Spiegel von Ketonkörpern im Urin
Anomalie der Zerebrospinalflüssigkeit
Eine Abnormalität der Zerebrospinalflüssigkeit
Verminderter Spiegel von zirkulierendem Aldosteron
Eine verminderter Pegel von Aldosteron im Blut
Anomalie der Physiologie der Schilddrüse
Eine abnormale Funktion der Schilddrüse
Histidinämie
Eine erhöhte Konzentration von Histidin im Urin
Schilddrüsenhormonrezeptordefekt
Schilddrüsenhormonresistenz aufgrund eines Defekts in der Thyroidhormonrezeptor
Periphere schilddrüsenhormonresistenz
Halbwirbel
Fehlen einer Hälfte des Wirbelkörpers
Lordose
Kyphose
Spondylodese
Eine angeborene Anomalie, gekennzeichnet durch eine Verbindung ​​ von zwei oder mehr zervikalen Wirbelkörper untereinander
Klippel-feil-syndrom
Granulom
Autoimmunreaktion
Autoimmunerkrankung
Cubitus valgus
Kniefehlstellung
Anomalie des Unterarms
Eine Abnormalität des Unterarms
Kniefehlstellung
Anomalie der Wade
Dysmelie
Hypoplasie des Radius
Anomalie der Fibula
Anomalie des Schienbeins
Anomalie der Ulna
Brustkrebs
Brustkrebs
Kolorektales karzinom
Ganglioneurom
Neuroblastom
Anomalie der Muskulatur
Menkes-syndrom
Anomalie des Handgelenks
Anomalien der Handgelenke
Hypoplasie der Ulna
Mesomele dysplasie
Anomalie der Knöchel
Arthropathie
Ellenbogenluxation
Anomalie der Schulter
Anomalie der Patella
Patella-Anomalie
Radiusköpfchen-subluxation
Vergrößerte Metaphysen
Amelia aller vier Gliedmaßen
Tetraamelie
Anomalie des Radioulnargelenks
Anomalie des Humerus
Hyperkalzämie
Hypalbuminämie
Hyperglykämie
Glucosurie
Glukosurie
Hyperlipoproteinämie
Radiusköpfchen-subluxation
Kleine Hände und Füße
Anomalie der Cholesterin-Stoffwechsel
Anomalie der Urin-Homöostase
Anomalie der Ionenhomöostase
Elektrolytstörung
Anomalie des Serumaminosäurespiegel
Anomalie des Spiegels zirkulierender Hormone
Abnormität des Lipidstoffwechsels
Fettstoffwechselstörung
Hypercholesterinämie
Laktatazidose
Cystinurie
Anomalie der Kleinhirnseitenstränge
Anomalie der peripheren Nervenleitung
Organoazidopathie
Isosthenurie
Hyperoxalurie
Abnormalität des Acetabulums
Anomalie des Schambeins
Anomalie der Sitzbein
Protrusio acetabuli
Flaches Pfannendach
Flache Hüftpfanne
Weite Schambeinfuge
Verminderte Hüftabduktion
Limitierte Hüftabduktion
Schlupfwarzen
Brust Hypoplasie
Unterentwicklung der Brust
Lange Nase
Das Vorhandensein einer Kerbe am Rand des Nasenflügels
Allergische Rhinitis
Kurze Nase
Myopathie
Merrf-syndrom
Rhabdomyolyse
Skelettmuskelatrophie
Muskelatrophie
Arterienverkalkung
Erhöhter IgE-Spiegel
Organoazidopathie
Anomalie der Chromosomenstabilität
Proaccelerin
Hypernatriämie
Tyrosinämie
Erhöhter IgG-Spiegel
Hypogonadismus
Verkleinerte Genitalien
Aplasie der Vagina
Eine Aplasie der Vagina
Unfruchtbarkeit des Mannes
Anomalie der DNA-Reparatur
Anomalie der Gerinnungskaskade
Koagulopathie
Glyoxalase-Mangel
Erhöhtes Kreatinin im Serum
Erhöhter IgA-Spiegel
Neugeborenengelbsucht
Anomalie des Hüftknochens
Eine Anomalie des Hüftknochens
Anomalie der Hüften
Anomalie des mitochondrialen Stoffwechsels
Spina bifida
Spondylolisthesis
Spondylolysis
Lordose
Anomalie des Zahnfortsatz
Schmetterlingswirbel
Anomalie der Halswirbelsäule
Myalgie
Abnorme Knochenstruktur
Aminoazidurie
Thymushormon verringert
Situs inversus
Kokzygodynie
Anomalie des Oberschenkelhals oder Oberschenkelkopf
Anomalie des Schenkelhals
Anomalie des Oberschenkelkopf
Eine Anomalie des Oberschenkelkopf
Gowers-zeichen
Muskelkrampf
Syringomyelie
Parästhesie
Familiäre adenomatöse polyposis
Priapismus
Atlantoaxiale Anomalie
Plexuspapillom
Spinale stenose
Augenschmerzen
Rückenschmerzen
Unterkieferschmerzen
Hexenschuss
Papel
Muskelschwäche im Thenar
Kayser-Fleischer-Kornealring
Pustel
Lichenifikation
Hypomyelinisierung des ZNS
Reduzierte Menge von Myelin im zentralen Nervensystem, welche aus einer defekten Myelogenese resultiert
Hautbläschen
Verminderte Nervenleitgeschwindigkeit der Motorneuronen
Eine verringerte Nervenleitungsgeschwindigkeit, die die Motorneuronen betrifft
Hautkrankheit
Warze
Warzen
Hautkrankheit
Sensorische ataktische Neuropathie
Hauterosion
Kälteinduzierte Krämpfe in den Händen
Epidermoidzyste
Das Vorhandensein einer oder mehrerer Zysten der Haut
Chondritis der Ohrmuschel
Knorpelentzündung der Ohrmuschel
Entzündung des Knorpels der Ohrmuschel
Fehlender Achillesreflex
Porokeratose
Verringerte Größe der Nervenenden
Eine Verringerung der Größe der Nervenenden
Kleine Hand
Unproportional kleine Hand
Monodactyly
Hemihypotrophie der unteren Gliedmaßen
Verkürzung eines Beines, wobei nur eine Seite betroffen ist.
Angiosarkom
Erhöhter Eisengehalt im Serum
Kolorektale Polyposis
Dickdarmpolyp
Thrombozyten-Antikörper positiv
Das Vorhandensein von Autoantikörpern im Serum, die gegen Thrombozyten gerichtetet sind
Erhöhung langkettiger Fettsäuren
Erhöhte Konzentration an langkettigen Fettsäuren
Wiederholte Spontanaborte
Spontanabort, wiederkehrend
EMG Anomalie
Chorioretinale Degeneration
Asymmetrie der Irispigmentierung
Anomalie der Wirbel
Lähmung
Myasthenie
Hypästhesie
Riesenzellhepatitis
EMG: axonale Anomalie
Babinski-reflex
Antinukleärer antikörper
Metabolische alkalose
Akute Hepatitis
Schwerer Kleinwuchs
Kleinwuchs
Hepatitis
Hepatitis
Erhöhtes Calcitonin
Purpura schönlein-henoch
Mastozytose
Anomalie des Bindegewebes
Muskelkater
Muskeldystrophie
Molybdän-cofaktor-defizienz
Schleichendes Auftreten
Allmählicher Beginn
Beginn im Mittleren Alter
Antiphospholipid-syndrom
Trimethylaminurie
Hämoglobinurie
Sulfitoxidase
Anomalie des Glykosid-Stoffwechsels
Schaumzelle
Manifestationsalter
Progressiv
Fortschreitende Erkrankung
Langsame Progression
Rasche Progression
Nicht progressiv
Scapula alata
Muskelaufbau
Kongenitale muskeldystrophie
Antizipation
Sporadische gruppe
Kalzinose
Bruxismus
Nävus
Schuppenflechte
Periodische lähmung
Chronisches nierenversagen
Übermäßiger Speichelfluss
Hypersalivation
Mukelabnormalität im Zusammenhang mit mitochondrialer Dysfunktion
Perinatale mortalität
Tödlich bei Neugeborenenalter
Phänotypische Variabilität
Tod in der Kindheit
Totgeburt
Perinatale mortalität
Variable Expressivität
Penetranz
Reduzierte Penetranz
Altersabhängige Penetranz
Penetranz vom Alter abhängig
Anomalie des Tibia-Plateaus
Schulterluxation
Anomalie der Morphologie der Knochenepiphyse der oberen Extremitäten
Aplasie des Humerus
Gespaltener Oberarmknochen
Dreieckiger Humerus
Anomalie der Humerusköpfe
Anomalie der humeralen Epiphyse
Eine Anomalie der Oberarm-Epiphyse
Anomalie der Epiphysenfuge des Oberarm
Anomalie der Metaphysen des Oberarm
Anomalie der Humerusdiaphyse
Eine Anomalie der Humerusdiaphyse
Anomalie der Gelenkräume des Ellenbogens
Anomalie der Epiphysen des Ellenbogens
Anomalie der Metaphysen des Ellenbogen
Aplasie der Unterarmknochen
Anomalie des Radiusköpfchens
Anomalie der radialen Epiphyse
Anomalie der radialen Metaphysen
Symblepharon
Anomalie des Siebbein
Eine Abnormalität des Siebbeins
Anomalie des Tränenbein
Eine Anomalie des Tränenbein
Anomalie des Gaumenbeins
Eine Anomalie des Gaumenbeins
Anomalie des Stirnbeins
Eine Anomalie des Stirnbeins
Anomalie der Muskulatur des weichen Gaumens
Eine Anomalie von einer oder mehreren der fünf Muskeln des weichen Gaumens
Anomalie der Muskulatur des Rachens
Eine Abnormalität eines der Muskeln des Rachens
Anomalie der radialen Diaphyse
Eine Anomalie der radialen Diaphyse
Eine Abnormalität des Lidbindehaut
Anomalie des Olecranon
Anomalie der Keilbeinhöhle
Anomalie der Kieferhöhle
Anomalie des Musculus levator labii superioris alaeque nasi
Anomalie des Processus styloideus ulnae
Anomalie der Halsschlagader
Anomalie der Nasenmuskulatur
Anomalie der Epiphysen der Elle
Anomalie der Muskeln des Gesichtsausdrucks
Anomalie der ulnaren Metaphyse
Anomalie des Zäpfchenmuskel
Anomalie der Form des Mittelgesichtes
Anomalie der externen Halsschlagader
Klumphand
Makrodaktylie
Anomalie des zweiten Fingers
Eine Anomalie des zweiten Fingers, der auch als Zeigefinger bekannt ist
Anomalie des dritten Fingers
Eine Anomalie des dritten Fingers
Anomalie der Mittelphalanx des 3. Fingers
Anomalie des vierten Fingers
Anomalie des fünften Fingers
Anomalie der Phalangen des 5. Fingers
Anomalie der Mittelphalanx des 5. Fingers
Anomalie der Epiphyse der Mittelphalanx des 5. Fingers
Anomalie der Phalanx des 5. Fingers
Anomalie des Kahnbein
Anomalie des Mondbein
Anomalie des Trapezes
Anomalie des kleinen Vieleckbein
Anomalie des Hakenbein
Anomalie des Os capitatum
Anomalie der Magenschleimhaut
Eine Abnormalität der Magenschleimhaut
Anomalie des Magen-Darm-Gefäßsystem
Anomalie des Gallensystems
Eine Anomalie des Gallensystems
Anomalie der Bauchwand
Anomalie der Muskelfasern
Anomalie der Herzinnenhaut
Eine Anomalie der Herzinnenhaut
Herzrhythmusstörung
Präexzitation
Anomalie der Makrophagen
Eine Anomalie der Makrophagen
Anomalie der Retikulozyten
Kleinwuchs
Anomalie des Körpergewichts
Kachexie
Abnormalität des Glaskörpers
Eine Anomalie des Glaskörpers
Anomalie des vorderen Segments des Auges
Eine Anomalie des vorderen Segments des Auges
Anomalie des hinteren Segments des Auges
Anomalie der Lymphozyten
Eine Anomalie der Lymphozyten
Anomalie des Aminosäurestoffwechsels
Anomalie des Stoffwechsel von aromatischen Aminosäuren
Anomalie des Schwefelaminosäurenstoffwechsel
Eine Abnormalität des Schwefelaminosäurestoffwechsels
Abnormalität des Vitamin B-Stoffwechsel
Abnormalität des Vitamin-B12-Stoffwechsel
Anomalie des Galactosidstoffwechsels
Anomalie des Glycosphingolipidstoffwechsels
Eine Anomalie des Glycosphingolipidstoffwechsels
Anomalie des Cerebrosidasestoffwechsel
Anomalie des Gangliosidstoffwechsel
Anomalie des Knochenmineraldichte
Anomalie des Purinstoffwechsels
Anomalie des Pyrimidinstoffwechsel
Eine Anomalie einer Pyrimidinbasestoffwechsel
Anomalie des Carbonsäure-Stoffwechsel
Eine Abnormalität des Stoffwechsels einer Carbonsäure
Anomalie des Proteoglykan-Stoffwechsel
Eine Anomalie des Proteoglykan-Stoffwechsel
Anomalie des lysosomalen Stoffwechsels
Anomalie des Leucinstoffwechsels
Anomalie des Superoxid-Stoffwechsel
Anomalie des Fettsäurestoffwechsels
Eine Abnormalität des Fettsäurestoffwechsels
Anomalie der Säure-Basen-Homöostase
Anomalie des zirkulierenden Leptinspiegel
Anomalie der enterischen Ganglien
Anomalie der Calcium-Homöostase
Eine Abnormalität Calciumion Homöostase
Anomalie der Homöostase von Stickstoffverbindungen
Anomalie des Tryptophanstoffwechsels
Eine Anomalie des Tryptophan-Stoffwechsel
Anomalie der Glykolyse
Eine Anomalie der Glykolyse
Anomalie des Glykoprotein-Stoffwechsel
Eine Abnormalität eines Glykoproteins-Stoffwechsel
Anomalie der Temperaturregelung
Eine Anomalie der Temperatur-Homöostase
Anomalie des Glykosaminoglykan-Stoffwechsel
Fokale Dystonie
Anomalie des Anus
Anomalie der Aktivität der alkalische Phosphatase
Eine Anomalie der Aktivität der alkalische Phosphatase
Mikrokolon
Prune-belly-syndrom
Mangelernährung
Anorexie
Analatresie
Magengeschwür
Anomalie des Pylorus
Eine Anomalie des Pylorus
Mekonium
Anomalie der Brustwarze
Eine Anomalie der Brustwarze
Anomalie der Geruchssinn
Eine Anomalie in der Fähigkeit Düfte  zu erkennen und zu unterscheiden
Hyposmie
Septumdeviation
Anomalie der Lungenarterie
Eine Anomalie der Lungenarterie
Pulmonalarterienstenose
Claudicatio intermittens
Thrombophlebitis
Thrombose
Flache Stirn
Abgeflachte Stirn
Anomalie der Wange
Anomalie der Wangen
Wiederholte Virusinfektionen
Severe combined immunodeficiency
Agammaglobulinämie
Agammaglobulinämie
Hyperostosis frontalis interna
Crouzon-syndrom
Poikilozytose
Anomalie der Mittelohr-Ossikel
Chronisch obstruktive lungenerkrankung
Hypertrichose
Birnenförmige Wirbel
Birnenförmiger Wirbelkörper
Klippel-feil-syndrom
Spinale stenose
Anomalie des Nierensammelsystems
Eine Anomalie des Nierensammelsystems
Membranoproliferative glomerulonephritis
Vorhofflattern
Supraventrikuläre tachykardie
Ventrikuläre Tachykardie
Vorhofflimmern
Angeborener Septumdefekt
Angeborene Septumdefekte
Hypoplasie des rechten Ventrikels
Supraventrikuläre tachykardie
Malrotation
Hepatitis
Laktoseintoleranz
Akute myeloische leukämie
Alloimmun-thrombozytopenie
Kongenitale dyserythropoetische Anämie
Paroxysmale nächtliche hämoglobinurie
Promyelozytenleukämie
Hageman-faktor
Protein-S-mangel
Hernie
narbenhernie
Anomalie der Magnesium-Homöostase
Eine Abnormalität Magnesiumion Homöostase
Anomalie des Lungengefäßsystems
Aortenaneurysma
Arteriovenöse fistel
Periphere arterielle verschlusskrankheit
Aortenaneurysma
bauchaortenaneurysma
Knie-Luxation
Abnormale Nasenmorphologie
Anomalie der Wirbelendplatten
Anomalie des Kreuzbeins
Eine Abnormalität des Kreuzbeins
Anomalie des Bandscheiben
Eine Anomalie des Bandscheiben
Anomalie der Achillessehne
Eine Anomalie der Achillessehne
Vorhofflimmern
Dilatation des Aortenbogens
Aortenbogendilatation
Anomalie des Herzvorhof
Eine Abnormalität der T-Welle im Elektrokardiogramm, das hauptsächlich die Repolarisation der Ventrikel repräsentiert
Trikuspidalinsuffizienz
Aplasie der Bauchwandmuskulatur
Retroperitonealfibrose
Helicobacter pylori Infektion
Boerhaave-syndrom
Pankreaszyste
Darmverschluss
Darm-Ödem
Gallengangatresie
Hämarthrose
Anomalie der Synovia
Gastritis
Anomalie der Gallenblase
Eine Anomalie der Gallenblase
Anomalie der Gallenblase
Anomalie des Jejunum
Eine Abnormalität des Jejunums, also des mittlere Abschnitts des Dünndarms
Dickdarmpolyp
Spontane Fehlgeburt
Fehlende Nasenscheidewand
Prominente Nasenspitze
Hypoplastische Nasenspitze
Flache Nasenwurzel
Hypoplastischer Nasenrücken
Fehlender Nasenrücken
Anomalie der Nasenlöcher
Anomalie des Nasenlochs
Anomalie der Nasenlöcher
Anomalie der Nasen-Lippen-Region
Karotisstenose
Sinusthrombose
Thrombus
Fibromuskuläre dysplasie
Zerebrale vaskulitis
Entzündung der Blutgefäße im Gehirn
Anomalie des Komplementsystems
Eine Abnormalität des Komplementsystems
Hypoplasie der Blase
Hypoplastische Blase
Anomalie der Karotiden
Anomalie der Hohlvene
Abnormer Gesichtsausdruck
Stridor
Hypoplasie des Kehldeckels
Eine Hypoplasie des Kehldeckels
Anfälligkeit für den Herpes-Virus
Aplasie des Thymus
Fehlen der Thymusdrüse
Anfälligkeit für Windpocken
Schwere Virusinfektionen
Schwere B Lymphozytopenie
Anomalie der humoralen Immunität
Defekte humorale Immunität
Anomalie der B-Zell-Physiologie
Eine Abnormalität der physiologischen Funktion von B-Zellen
Reduzierte B-Zell-Funktion
Zellulärer Immundefekt
Defekte B-Zellaktivierung
Wiederkehrende Candida-Infektionen
Häufige Candida-Infektionen
Lymphopenie
Zunahme der B-Zellen-Zahl
Erhöhte Anzahl von B-Zellen
Anomalie der CD4+ T-Zellen
Candida-Syndrom
Verringerte T-Zell-Aktivierung
IgE-Mangel
Anomalie des alternativen Komplementsystems
Anomalie des Kehldeckels
Eine Anomalie des Kehldeckels
Anämie
Chronische myeloische leukämie
Hämoglobin barts
Morbus waldenström
Anämie
Disseminierte intravasale koagulopathie
Lymphoproliferatives syndrom
Reduzierte Protein-C-Aktivität
Protein-C-Mangel
Myeloproliferative neoplasie
Kostmann-syndrom
Chronische lymphatische leukämie
Anomalie der Sutura frontalis
Anomalie der Jochbogen
Eine Anomalie des Jochbogen, auch bekannt als die Wangenknochen
Chronische Leukämie
Anomalie des Kinin-Kallikrein-Systems
Anomalie des Knochenmarkzellmorphologie
Eine Anomalie von der Form oder der Anzahl der Zellen im Knochenmark
Hämatologie
Multiple Nierenzysten
Verringerte Anzahl von Nephronen
Hämolytisch-urämisches syndrom
Nierenkrebs
Hypopigmentierung der Haare
Haar-Hypopigmentierung
Anomalie des Tracheobronchialsystem
Brachydaktylie Typ D
Überdehnbare Handgelenke
Alkaptonurie
Axis
Juvenile idiopathische arthritis
Morbus perthes
Mehrere Skelettanomalien
Brachydaktylie
Gespaltern distaler Phalanx des Daumen
Pseudarthrose
Chronisch rekurrierende multifokale Osteomyelitis
Gallengangatresie
Anomalie der Mittelhand-Epiphysen
Anomalie der Phalanx der Finger
Anomalie der Epiphysen der Phalangen der Hand
Jede strukturelle Anomalie der Hand
Anomalie der Epiphysen der Hand
Anomalie der Morphologie der Epiphysen
Respiratorische azidose
Fruktoseintoleranz
Phenylketonurie
Harnleiter-Atresie
Ureterobstruktion
Einseitige Brachydaktylie
Hyperhidrose
Anomalie der Beweglichkeit der Handgelenke
Anomalie der Verknöcherung der Handwurzelknochen
Anomalie der Grundgelenke der Hand
Anomalie der Epiphysen des 2. Finger
Aplasie
Hypoplasie der Finger
Kleine Plazenta
Reduzierte Größe der Plazenta
Große Plazenta
Plazentavergrößerung
Pankreas-Hyperplasie
Chronische Pankreatitis
Anomalie des Zahnausbruch
Eine Abnormalität des Zahndurchbruchs
Kurze Zahnwurzeln
Kurze Zahnwurzel
Anomalie der Morphologie der hinteren Milchzähne
Eine Anomalie der Morphologie der primären Molaren
Anomalie der Metaphysen des Proximalen Femur
Osteoonychodysplasie
Anomalie der Pankreas-Inselzellen
Anomalie der Kieferkämme
Anomalie der Pulpa
Eine Anomalie der Pulpa
Anomalie der Milchzähne
Anomalie der Zahnmorphologie
Eine Abnormalität der Morphologie der Zähne
Anomalie der Zahnwurzel
Eine Anomalie der Zahnwurzel
Anomalie der Femurmetaphyse
Eine Anomalie des Femurmetaphyse
Anomalie der Metaphysen der unteren Extremitäten
Anomalie der Tibiametaphyse
Anomalie der Femurepiphyse
Eine Anomalie einer Wachstumsplatte eines Oberschenkelknochens
Anomalie der Morphologie der Epiphysen der unteren Extremitäten
Anomalie der Morphologie der Epiphysen der Extremitäten
Anomalie des Tibia-Epiphysen
Chronisch obstruktive Lungenerkrankung
Interstitielle lungenerkrankung
Alveolarproteinose
Bronchioloalveoläres karzinom
Lymphoproliferatives syndrom
Interstitielle Lungenerkrankung
Rekurrierende Lungenentzündung
Kreislaufstillstand
Zystenleber
Leberverkalkung
Leberverkalkungen
Leberentzündung aufgrund einer Infektion mit einem Virus,
Neugeborenengelbsucht
Aplasie des Schulterblatts
Zwerchfelllähmung
Supraventrikuläre tachykardie
Extrasystole
Atrio-ventrikulärer septumdefekt
Anomalie der Koronararterien
Eine Anomalie der Koronararterien
Anomalie der Segelklappen
Eine Abnormalität der Atrioventrikularklappe
Anomalie des Lebergefäß
Eine Anomalie des Lebergefäß
Akute lymphatische leukämie
Pankreastumor
Nebennierenrindenkarzinom
Chondrosarkom
Angiomyolipom
Multiples myelom
Gliedergürteldystrophie
Amyotrophe lateralsklerose
Hämangioblastom
Enzephalozele
Nystagmus
Spinale muskelatrophie
Periventrikuläre leukomalazie
Aufmerksamkeitsdefizit-
hyperaktivitätsstörung
Hyperaktivität
Pseudobulbärparalyse
Chiari-malformation
Demenz
Polyneuropathie
Möbius-syndrom
Fazialislähmung
Anomalie der Form der Hornhaut
Aplasie der Gesichtsknochen
Pyramidales system
Spinozerebelläre ataxie
Anomalie des zweiten Mittelfußknochen
Anomalie des vierten Mittelfußknochen
Spinale muskelatrophie
Aplasie der ekkrinen Schweißdrüsen
Anomalie der Hemidiaphragmen
Anomalie des linken Hemidiaphragma
Anomalie des rechten Hemidiaphragma
Aplasie des linken Hemidiaphragma
Makulaödem
Anomalie der oberen Wimpern
Anomalie der unteren Wimpern
Anomalie des Nasenhaares
Anomalie der Gliedmaßen
Dysmelie
Anomalie der Knochen der Extremitäten
Anomalie der Knochen der unteren Extremitäten
Bipolare störung
Affektive störung
Anomalie der Knochen der oberen Extremitäten
Anomalie der Unterarmknochen
Hypophyseninsuffizienz
Neurodegenerative erkrankung
Anomalie der Folsäure im Blut
Anomalie der Anzahl der natürlichen Killerzellen
Anomalie des Trommelfells
Eine Anomalie des Trommelfells
Dystonie
Anomalie des runden Fensters
Anomalie des Vorhoffenster
Morphologische Anomalie des lateralen Bogengangs
Morphologische Anomalie der hinteren Bogengangs
Morphologische Anomalie des vorderen Bogengangs
Morphologische Anomalie des Utriculus
Morphologische Anomalie des Sacculus
Presbyakusis
Anomalie der Eustachischen Röhre
Aplasie der Eustachischen Röhre
Anomalie des Reflexes des Tensor tympanii Muskel
Anomalie der akustischen Reflex
Amyotrophe lateralsklerose
Anomalie des Pons
Eine Anomalie des Pons
Farber-syndrom
Spätdyskinesie
Anomalie des Septum pellucidum
Anomalie des Plexus
Anomalie des somatosensorischen evozierten Potentiale
Acne inversa
Periostitis
Entzündung der Knochenhaut
Anomalie des Knochenhaut
Anomalie des Haarwachstums
Anomalie der occipitofrontalis Muskel
Anomalie des Zungenmuskels
Anomalie der extrinsischen Muskulatur der Zunge
Erniedrigter Spiegel des Plättchen-aktivierenden Faktors
Erniedrigter Spiegel von PAF
Feuermal auf der Stirn
Feuermal lokalisiert auf der Haut der Stirn
Cheilitis
Cheilitis exfoliativa
Enkopresis
Orale Blutungen
Makrothrombozytopenie
Alopezietotalis
Verlust aller Kopfhaare
Totale Alopezie
Makulopapulöses Exanthem
Neugeborenensepsis
Spontane Hämatome
Spontane Entwicklung von Hämatomen  oder Blutergüssen ohne nennenswerte Traumata
Osteochondrosis
Teleangiektasien der Wangen
Schuppende Haut
Hautschuppe
Überdehnbare Haut des Gesichtes
Pineoblastom
Erhöhter Kopfumfang
Netzartige Pigmentierung der Haut
Verringerter Kopfumfang
Teleangiektasien der Mundschleimhaut
Milde Mikrozephalie
Wenige Café-au-lait-Flecken
Das Vorhandensein von zwei bis fünf Café-au-lait-Flecken
Ichthyose
Hereditäre palmoplantarkeratose
Partieller Albinismus
Anomalie der Haut der Handfläche
Risus sardonicus
Adermatoglyphie
Hämangiomatose
Christ-siemens-touraine-syndrom
Hyperkeratose
Clouston-syndrom
Piebaldismus
Hyperkeratose
Hyperkeratose
Christ-siemens-touraine-syndrom
Storchenbiss
Farbenfehlsichtigkeit
Anomalie der chorioretinale Pigmentierung
Sehschärfe
Best-krankheit
Anomalie der retinalen Pigmentierung
Aderhautmelanom
Monochromat
Iris-heterochromie
Makuladegeneration
Lebersche kongenitale amaurose
Konjunktivitis
conjunktivitis allergica
Farbenfehlsichtigkeit
Anomalie der makularen Pigmentierung
Anomalie des retinalen Gefäßsystems
Anomalie des Gefäßsystems des Auges
Anomalie der Augenmuskeln
Anomalie der Lidspalten
Abnormalität der Vaskulatur der Bindehaut
Ichthyose
Bulla
Hautkrebs
Tumoren der Haut
Dermatologische Tumore
Hallux varus
Anomalie des fünften Mittelfußknochen
Eine Anomalie des fünften Mittelfußknochen
Proconvertin
Abetalipoproteinämie
Insulinresistenz
Nebennierenrindeninsuffizienz
Parathormon
Ovarialinsuffizienz
Aplasie der Nebenschilddrüse
Hypogonadismus
Nebennierenrindeninsuffizienz
Adrenogenitales syndrom
Pseudohypoaldosteronismus
Hypothyreose
Adrenogenitales syndrom
Anomalie der Zink-Homöostase
Eine Abnormalität Zinkion-Homöostase
Zerebelläre abiotrophie
Udp-glucuronosyltransferase
Eine Abnormalität der Mitochondrien im Muskelgewebe
Stuart-prower-faktor
Jede strukturelle Anomalie der Mitochondrien
Pyridoxinmangel
Anomalie des Fersenbeins
Anomalie des Talus
Eine Anomalie des Talus
Abnormalität des Vitamin-A-Stoffwechsel
Langsam wachsende Nägel
Abnormales Nagelwachstum
Anomalie der Zehennägel
Eine Anomalie der Zehnägel
Anomalie der Zehennagel
Nagel
Wirbelbogen-Anomalie
C1-C2 Wirbel Anomalie
Spondylosis deformans
Anomalie der Wirbeldornfortsätze
Anomalie des Steißbeins
Eine Anomalie des Steißbeins
Ohrmuschelfehlbildung
Hypoplasie der Cochlea
Hypoplastische Cochlea
Morphologische Abnormalität des Mittelohrs
Eine Abnormalität der Morphologie oder Struktur des Mittelohrs
Anomalie des Steigbügels
Eine Abnormalität des Steigbügels, eines bügelförmigen Gehörknöchelchens im Mittelohr
Tinnitus
Eine Entwicklungsanomalie des Harnleiters
Rasch progressive glomerulonephritis
Medullär-zystische nierenerkrankung typ 1
Klitorishypertrophie
Megaureter
Hypoplasie der Prostata
Hypoplastische Prostata
Benigne prostatahyperplasie
Gonadendysgenesie
Anomalie der Aryepiglottischen Falte
Eine Anomalie der Aryepiglottischen Falte
Aplasie des Kehldeckels
Laryngomalazie
Anomalie der Prostata
Eine Anomalie der Prostata
Anomalie der Nierenarterie
Eine Anomalie der Nierenarterie
Anomalie der Stimmbänder
Eine Abnormalität des Stimmbandes
Mesomele dysplasie
Pectoralis Hypoplasie
Hypoplastische Brustmuskeln
Hypoplasie der Muskulatur
Hypoplastischer Bizeps
Lipodystrophie typ berardinelli
Eine Anomalie der Bildung und Mineralisation von Knochen des knöchernen Becken
Zwerchfellhernie
Anomalie des Fettgewebes
Lipodystrophie
Anomalie der Muskulatur der Gliedmaßen
Anomalie der Muskulatur des Thorax
Anomalie der Hirnarterie
Anomalie der Grundphalanx des 5. Fingers
Anomalie der Epiphysen des 5. Fingers
Anomalie der Epiphyse der Grundphalanx des 5. Fingers
Fehlende Epiphyse der proximalen Phalanx des 5. Finger
Aplasie der Mittelphalanx des 5. Fingers
Anomalie der Phalangen des 4. Finger
Anomalie der Epiphysen des 4. Finger
Anomalie der Epiphyse des distalen Phalanx des 5. Fingers
Aplasie des proximal Phalanx des 5. Fingers
Aplasie des 5. Fingers
Aplasie des distalen Phalanx des 5. Fingers
Anomalie der Epiphyse der Mittelphalanx des 4. Fingers
Anomalie der Epiphyse der proximalen Phalanx des 4. Finger
Anomalie der Epiphyse des distalen Phalanx des 4. Finger
Fehlende Epiphyse der proximalen Phalanx des 4. Finger
Kegelförmige Epiphysen der proximalen Phalanx des 4. Finger
Vergrößerte Epiphyse der proximalen Phalanx des 4. Finger
Aplasie des 4. Fingers
Anomalie der distalen Phalanx des 4. Finger
Anomalie der Mittelphalanx des 4. Fingers
Anomalie der proximalen Phalanx der 4. Finger
Aplasie des distalen Phalanx des 4. Finger
Aplasie der Mittelphalanx des 4. Fingers
Aplasie der proximalen Phalanx des 4. Finger
Anomalie der Phalangen des 3. Finger
Anomalie der Epiphysen des 3. Finger
Anomalie der Epiphyse des distalen Phalanx des 3. Fingers
Anomalie der Epiphyse der proximalen Phalanx der 3. Finger
Anomalie der Epiphyse der Mittelphalanx des 3. Fingers
Fehlende Epiphyse der proximalen Phalanx des 3. Finger
Anomalie der distalen Phalanx des 3. Fingers
Anomalie der proximalen Phalanx des 3. Finger
Aplasie der Finger
Aplasie eines oder mehrerer Finger
Aplasie der distalen Phalanx des 3. Fingers
Aplasie der proximalen Phalanx des 3. Fingers
Aplasie des 3. Fingers
Anomalie der Epiphyse des distalen Phalanx des 2. Finger
Anomalie der Epiphyse der Mittelphalanx des 2. Fingers
Anomalie der Epiphyse des proximalen Phalanx des 2. Finger
Fehlende Epiphyse der proximalen Phalanx des 2. Finger
Aplasie des 2. Fingers
Aplasie des Zeigefingers
Anomalie der Phalangen des 2. Fingers
Anomalie der distalen Phalanx des 2. Fingers
Anomalie der Mittelphalanx des 2. Fingers
Anomalie der proximalen Phalanx der 2. Finger
Anomalie des Haaransatz
Fehlen der Tibia
Aplasie der Tibia
Aplasie der distalen Phalanx des 2. Fingers
Akustikusneurinom
Anomalie des Hör-Gleichgewichtsnerv
Astrozytom
Aplasie der proximalen Phalanx des 2. Fingers
Anomalie der Epiphysen des Daumen
Anomalie des Daumenphalanx
Anomalie des distalen Phalanx des Daumens
Anomalie der proximalen Phalanx des Daumens
Aplasie des distalen Phalanx des Daumens
Aplasie der Phalangen des Daumens
Anomalie der Epiphyse des distalen Phalanx des Daumens
Anomalie der Epiphyse der proximalen Phalanx des Daumens
Fehlende Epiphyse der proximalen Phalanx des Daumen
Anomalie der Nebenhoden
Eine Anomalie der Nebenhoden
Anomalie der subungualen Region
Blasenkrebs
Rhabdomyom
Rhabdomyom
Gliom
Anomalie der Anthelix
Eine Anomalie der Anthelix
Aplasie der Ohrspeicheldrüse
Nephrosklerose
Distichiasis
Anomalie der Dura mater spinalis
Große Ohrläppchen
Aplasie des großen Brustmuskels
Amniotisches-band-syndrom
Aplasie des Daumens
Daumen-Aplasie
Periproktitis
Teratom
Cholesteatom
Schwangerschaftsdiabetes
Aplasie der Phalangen der Hand
Hypodontie
Anomalie der Metaphyse der oberen Extremitäten
Anomalie der Gelenke der oberen Extremitäten
Anomalie des Ellenbogens
Amelia
Phokomelie
Mononeuropathia multiplex
Mononeuropathia multiplex
Anomalie der distalen Phalangen der Finger
Anomalie der mittleren Phalangen der Hand
Anomalie der proximalen Phalangen der Hand
Aplasie der distalen Phalangen der Hand
Anomalie der Haarpigmentierung
Anomalie des Antitragus
Aplasie der Mittelohr-Gehörknöchelchens
Anomalie des Schläfenbeins
Anomalie des Tragus
Eine Anomalie des Tragus
Zyklopie
Anisokorie
Retinoblastom
Naevus fuscocaeruleus
Duane-Syndrom
Vermehrter Tränenfluss
Epiphora
Aplasie der Nase
Anomalie der Columella
Eine Anomalie der Columella
Eingefallenen Wangen
Unterkiefer-Aplasie
Fehlen des Unterkiefers
Asymmetrie des Unterkiefers
Asymmetrie des Mundes
Anomalie des ersten Mittelhandknochen
Anomalie des zweiten Mittelhandknochen
Anomalie des dritten Mittelhandknochen
Anomalie des vierten Mittelhandknochen
Anomalie des fünften Mittelhandknochen
Anomalie der Epiphyse des ersten Mittelhandknochen
Aplasie des ersten Mittelhandknochen
Aplasie des zweiten Mittelhandknochen
Aplasie des 3. Mittelhandknochen
Aplasie des 4. Mittelhandknochen
Aplasie des 5. Mittelhandknochen
Aplasie der Mittelhandknochen
Anomalie der proximalen Phalanx der Großzehe
Anomalie der Phalanx der Großzehe
Anomalie des ersten Mittelfußknochen
Anomalie der Epiphysen der Großzehe
Anomalie der Phalangen der Großzehe
Aplasie der distalen Phalanx der Großzehe
Aplasie der proximalen Phalanx der Großzehe
Aplasie der Phalangen der Großzehe
Anomalie der Epiphyse des distalen Phalanx der Großzehe
Anomalie der Epiphyse des 1. Mittelfußknochen
Anomalie der Epiphyse der proximalen Phalanx der Großzehe
Anomalie der Epiphysen der Zehen
Anomalie der Zehenphalangen
Anomalie der distalen Phalangen der Zehen
Anomalie der mittleren Phalangen der Zehen
Anomalie der proximalen Zehenphalanx
Anomalie der Epiphyse des zweiten Mittelhandknochen
Anomalie der Epiphyse des dritten Mittelhandknochen
Anomalie der Epiphyse des 4. Mittelhandknochen
Anomalie der Epiphyse des 5. Mittelhandknochen
Aplasie der Mittelphalanx der Hand
Aplasie der proximalen Phalangen der Hand
Anomalie der Epiphysen des distalen Phalangen der Finger
Anomalie der Epiphysen der mittleren Phalangen der Hand
Anomalie der Epiphysen der proximalen Phalangen der Hand
Mundfäule
Anomalie der Speicheldrüsen
Anomalie der Unterkieferspeicheldrüse
Anomalie der Zungenspeicheldrüse
Ankyloglosson
Zungenspaltung
Glossitis
Anomalie des Dentin
Spina bifida
Neuralrohrdefekt
Anomalie der Rückenmarkshäute
Stridor
Chylothorax
Anomalie der 2. Zehe
Eine Anomalie der zweiten Zehe
Anomalie der 3. Zehe
Eine Anomalie der dritten Zehe
Anomalie der 4. Zehe
Eine Anomalie der vierten Zehe
Anomalie der 5. Zehe
Eine Anomalie des kleinen Zehs
Anomalie der Epiphysen der 2. Zehe
Anomalie der Phalangen der 2. Zehe
Anomalie der Epiphysen der 3. Zehe
Anomalie der Phalangen der 3. Zehe
Anomalie der Epiphysen der 4. Zehe
Anomalie der Phalangen der 4. Zehe
Anomalie der Epiphysen der 5. Zehe
Anomalie der Phalangen der 5. Zehe
Anomalie des distalen Phalanx der 2. Zehe
Anomalie der Mittelphalanx der 2. Zehe
Anomalie der proximalen Phalanx der 2. Zehe
Anomalie der distalen Phalanx der 3. Zehe
Anomalie der Mittelphalanx des 3. Zehe
Anomalie der proximalen Phalanx der 3. Zehe
Anomalie der distalen Phalanx der 4. Zehe
Anomalie der Mittelphalanx der 4. Zehe
Anomalie der proximalen Phalanx der 4. Zehe
Anomalie des distalen Phalanx der 5. Zehe
Anomalie der Mittelphalanx der 5. Zehe
Anomalie der proximlaen Phalanx der 5. Zehe
Aplasie der Phalangen der 2. Zehe
Aplasie der Mittelphalanx der 2. Zehe
Aplasie der proximalen Phalanx der 2. Zehe
Anomalie der Kammerscheidewand
Hexadaktylie
Pulmonalklappeninsuffizienz
Analfistel
Weiblicher Pseudohermaphroditismus
Anomalie des weiblichen Genitalien
Abnormalität der männlichen Genitalien
Aplasie der Eierstöcke
Gonadendysgenesie
Aplasie der Hoden
Fehlen der Hoden
Überzählige Hodend
Anomalie des Häm-Biosynthesewegs
Aplasie der Blase
Anomalie des Urachus
Anomalie des Kleinfingerballen
Anomalie der Fingerfurchen
Sirenomelie
Patellaluxation
Aplasie der Fußwurzelknochen
Langer Zeh
Verlängerung der Zehen
Lange Zehen
Dyslexie
Agnosie
Astereognosie
Prosopagnosie
Echolalie
Transiente globale amnesie
Schlafapnoe-syndrom
Querschnittlähmung
Okulogyre krise
Anomalie des Clivus
Keloid
Anomalie der Epiphyse des Hüftkopfes
Anomalie der distalen Femurepiphyse
Anomalie der proximalen Tibiaepiphyse
Anomalie der distalen Tibiaepiphyse
Anomalie der Fibulaepiphysen
Anomalie der proximalen Fibulaepiphyse
Anomalie der distalen Fibulaepiphyse
Anomalie der proximalen radialen Epiphyse
Anomalie der distalen radialen Epiphyse
Anomalie der proximalen humeralen Epiphyse
Anomalie des distalen Humerusepiphyse
Anomalie des distalen Ulnaepiphyse
Anomalie der proximalen Ulnaepiphyse
Chalazion
Hordeolum
Hordeolum
Chalazion
Fibrom
Aplasie der Hypophyse
Fazialislähmung
Anomalie des Cortex des Oberarmknochens
Anomalie des Mittelfuß Epiphyse
Anomalie der Epiphysen der Füße
Schizenzephalie
Anomalie der Nasenhöhle
Aplasie der distalen Phalangen der Zehen
Anomalie der Hirnhäute
Anomalie der Dura mater
Eine Anomalie der Dura mater
Anomalie der Falx cerebri
Eine Anomalie der Falx cerebri
Aplasie der Falx cerebri
Anomalie des Zwischenhirns
Anomalie der Morphologie des Thalamus
Aplasie des Oberkiefers
Anomalie des Jochbein
Eine Anomalie des Jochbein
Anomalie des dritten Mittelfußknochen
Eine Anomalie des dritten Mittelfußknochen
Abnormalität der Krümmung der Wirbelsäule
Enuresis
Anomalie des Haarstruktur
Aplasie der Netzhaut
Osteopoikilose
Aplasie der Mittelfußknochen
Aplasie der Phalangen der Zehen
Dermatochalasis
Anomalie des Kiefergelenks
Aplasie des Zwischenkiefers
Anomalie des Zwischenkiefers
Aplasie der Zehen
Chordom
Sinus pilonidalis
Fistel
Sinus pilonidalis
Hyperakusis
Erythema
Anomalie der Leydig-Zellen
Hämangioblastom
Naevus sebaceus
Flimmerskotom
Anomalie des fünften Hirnnerven
Anomalie des elften Hirnnerven
Anomalie des zwölften Hirnnerven
Anomalie des siebten Hirnnerven
Spasmus hemifacialis
Anomalie der Schmerzempfindung
Anomalie der Kupfer-Homöostase
Chaddock-reflex
Anomalie des Spiegels zirkulierender Proteine
Hygroma colli
Anomalie der Nabelschnur
Eine Abnormalität der Nabelschnur, die den sich entwickelnden Embryo oder Fötus mit der Plazenta verbindet
Knochennekrose
Osteochondrosis dissecans
Morbus Osgood-Schlatter
Scheuermann-Krankheit
Anomalie des Stoffwechels von verzweigtkettige Aminosäuren
Anomalie der Phenylalanin-Stoffwechsels
Eine Anomalie des L-Phenylalanin Stoffwechsel
Anomalie des Stoffwechsel der Aminosäuren der Serin-Familie
Eine Anomalie des Aminosäure-Stoffwechsel der Serin Familie
Anomalie des Glycin Stoffwechsel
Eine Abnormalität des Glycin Stoffwechsel
Anomalie der Sarkosin Stoffwechsel
Eine Abnormalität des Stoffwechsels von Sarkosin
Anomalie des Stoffwechsel der Aminosäuren der Aspartat-Familie
Anomalie des Threonin-Stoffwechsel
Anomalie der Methioninstoffwechsels
Eine Anomalie des Methionin-Stoffwechsel
Anomalie des Stoffwechsel der Aminosäuren der Glutamin-Familie
Eine Abnormalität des Aminosäure-Stoffwechsel der Glutamin Familie
Anomalie des Glutaminmetabolismus
Eine Abnormalität des Glutamin-Stoffwechsel
Anomalie des Histidinmetabolismus
Eine Abnormalität des Histidin-Stoffwechsel
Anomalie des Prolinstoffwechsel
Eine Abnormalität des Prolin Stoffwechsel
Anomalie des Lysinstoffwechsel
Eine Abnormalität des Lysin-Stoffwechsel
Anomalie des Argininstoffwechsel
Eine Abnormalität des Arginin-Stoffwechsel
Anomalie des Isoleucinstoffwechsel
Eine Abnormalität des Isoleucin-Stoffwechsel
Anomalie des Valinstoffwechsel
Eine Abnormalität des Valin-Stoffwechsel
Anomalie des Stoffwechsel der Aminosäuren der Pyruvat Familie
Eine Anomalie des Aminosäure-Stoffwechsel der Pyruvat-Familie
Anomalie des Alaninstoffwechsel
Eine Abnormalität des Alanin Stoffwechsels
Anomalie des Tyrosinstoffwechsels
Eine Abnormalität des Tyrosin-Stoffwechsels
Anomalie des Cysteinstoffwechsel
Eine Abnormalität des Cystein-Stoffwechsels
Anomalie des Homocysteinstoffwechsel
Eine Abnormalität eines Homocystein-Stoffwechsels
Anomalie der Homöostase der divalenten anorganischen Kationen
Eine Anomalie der Homöostase der divalenten anorganischen Kationen
Anomalie der Orotsäurestoffwechsel
Eine Abnormalität des Stoffwechsels von Orotsäure
Anomalie der Kation-Homöostase
Eine Anomalie der Kation-Homöostase
Anomalie der Homöostase der monovalenten anorganisches Kation
Eine Anomalie der Homöostase der monovalenten anorganisches Kation
Anomalie des Natrium-Homöostase
Anomalie der Nukleinbasen-Stoffwechsel
Eine Anomalie des Nukleobase Stoffwechsels
Anomalie des Xanthin-Stoffwechsels
Eine Abnormalität des Xanthin-Stoffwechsels
Xanthinurie
Anomalie der oberen Harnwege
Eine Anomalie der oberen Harnwege
Anomalie der unteren Harnwege
Eine Anomalie der unteren Harnwege
Anomalie des Nasenskelett
Eine Anomalie des Nasenskelett
Anomalie der äußeren Nase
Eine Anomalie der äußeren Nase
Anomalie des Nasenbeins
Eine Abnormalität des Nasenbeins, bestehend aus dem linken Nasenbein und dem rechte Nasenbein
Aplasie des Nasenbeins
Anomalie des Nierenbeckens
Eine Anomalie des Nierenbeckens
Anomalie des Durchblutung des Ductus venosus
Anomalie des fetalen Herz-Kreislauf-Systems
Anomalie des Nabelvenendurchblutung
Anomalie des vierten Ventrikels
Eine Anomalie des vierten Ventrikels
Anomalie des dritten Ventrikels
Eine Anomalie des dritten Ventrikels
Urethralklappe
Pulmonaler sequester
Anomalie des Metablismus langkettiger Fettsäuren
Eine Abnormalität im Metabolismus langkettiger Fettsäuren
Anomalie des Phytansäure-Stoffwechsels
Eine Anomalie des Phytansäure-Stoffwechsels
Eine Anomalie des Fettsäureanion-Stoffwechsel
Anomalie des Carnitin-Stoffwechsel
Eine Anomalie des Carnitin-Stoffwechsel
Anomalie des Liposaccharid-Stoffwechsel
Eine Anomalie des Liposaccharid-Stoffwechsel
Anomalie des Glykolipid-Stoffwechsel
Eine Anomalie des Glykolipid-Stoffwechsel
Anomalie der Blutgruppenantigene
Eine Abnormalität eines Zelloberflächenmoleküls von Erythrozyten
Anomalie der myeloischen Leukozyten
Eine Anomalie der myeloischen Leukozyten
Anomalie der B-Zellen-Zahl
Anomalie der Phagozyten
Eine Anomalie der Phagozyten
Anomalie der Physiologie des Immunsystems
Anomalität des Pegels von Lipoproteincholesterin
Hyperlipoproteinämie
Polygenische Vererbung
Anomalie des zellulären Immunsystems
Anomalie des extrinsische Signalwegs
Anomalie des intrinsischen Signalwegs
Anomalie des gemeinsamen Koagulationsweges
Anomalie der Bauchmuskulatur
Eine Anomalie der Bauchmuskulatur
Anomalie des zerebralen Subkortex
Eine Anomalie des zerebralen Subkortex
Anomalie des Striatum
Anomalie des Dicarbonsäure-Stoffwechsel
Eine Anomalie des Dicarbonsäure-Stoffwechsel
Anomalie des Monocarbonsäure-Stoffwechsel
Eine Anomalie des Monocarbonsäure-Stoffwechsel
Aplasie des optischen Trakts
Osteosklerose
Osteopetrose
Anomalie der Muskulatur des Halses
Eine Abnormalität der Nackenmuskulatur
Anomalie des Polysaccharid-Stoffwechsel
Eine Abnormalität des Stoffwechsels von Polysaccharid
Anomalie des Kohlenhydratstoffwechsels
der Kohlenhydrathomöostase
Eine Abnormalität des Metabolismus
der Homöostase eines Kohlenhydrats
Anomalie der Blutglucosekonzentration
Eine Anomalie der Konzentration von Glukose im Blut
Anomalie der Uringlukosekonzentration
Eine Anomalie der Konzentration von Glukose im Urin
Anomalie der Zellphysiologie
Anomalie des Zellzyklus
Eine Anomalie des Zellzyklus
Anomalie der Chromosomenkondensation
Eine Anomalie der Chromosomenkondensation
Anomalie der Mucopolysaccharid-Stoffwechsel
Anomalie des Spiegels zirkulierender Enzyme
Anomalie des Metabolismus ungesättigter Fettsäuren
Eine Anomalie des Metabolismus ungesättigter Fettsäuren
Anomalie der Prostaglandinstoffwechsels
Eine Anomalie der Prostaglandinstoffwechsels
Abnormalität des Gastrointestinaltraktes
Eine Abnormalität des Gastrointestinaltraktes
Anomalie der Physiologie des Herz-Kreislauf-System
Anomalie der Eileiter
Eine Anomalie der Eileiter
Anomalie der Durchblutung
Eine Anomalie der Durchblutung
Anomalie der Eisenhomöostase
Anomalie der Flüssigkeitsregelung
Eine Abnormalität der Regulation von Körperflüssigkeiten
Amyloidose
Anomalie der Nierenrinde
Eine Abnormalität der Nierenrinde
Anomalie der Nierenausscheidung
Oligurie
Anomalie der renalen Resorption
Anomalie der Helix
Anomalie des intrahepatischen Gallengang
Eine Anomalie des intrahepatischen Gallengang
Anomalie der Kalium-Homöostase
Anomalie des Spiegels von zirkulierendem Adrenocorticotropin
Anomalie der Zahnstruktur
Eine Abnormalität der Struktur oder Zusammensetzung der Zähne
Anomalie der Morphologie des Schneidezahns
Eine Anomalie der Morphologie des Schneidezahnes
Hyperdontie
Hyperdontie
Anomalie der Morphologie der Mahlzähne
Eine Anomalie der Morphologie der Backenzahn
Anomalie der Morphologie der permanenten Mahlzähne
Eine Anomalie der Morphologie der bleibenden Molaren
Anomalie der Zahnfarbe
Anomalie der Prämolaren
Anomalie der Molaren
Anomalie der Eckzähne
Eine Anomalie der Eckzähne
Anomalie der Morphologie der Prämolaren
Eine Anomalie der Morphologie der Backenzähne
Überbiss
Demyelinisierende Erkrankung
Sprechapraxie
Anomalie des linksventrikulären Ausflusstraktes
Anomalie des Blutvolumens Homöostase
Hypervolämie
Hypovolämie
Aphthe
Sinusitis
Tonsillitis
Anomalie der Physiologie der Serumproteine des Immunsystems
Anomalie des Serum-Zytokin-Spiegels
Anomalie der Zytokinsekretion
Anomalie des Chemokinsekretion
Anomalie der Interferonsekretion
Anomalie des Interleukinsekretion
Anomalie der Tumornekrosefaktorsekretion
Anomalie des Nasenrückens
Sattelnase
Anomalie der Hautmorphologie
Anomalie der Hautphysiologie
Entzündliche Anomalie der Haut
Anomalie der epidermalen Morphologie
Anomalie der dermalen Melanosomen
Wanderniere
Anomalie der Morphologie der Nierenkelche
Fieber
Aplasie der Schweißdrüsen
Anomalie der Hautanhangsgebilde
Aplasie der Augenlider
Gefäßhautanomalie
Anomalie der Physiologie der Harnwege
Anomalie der Bicarbonatkonzentration im Urin
Eine Anomalie der Konzentration von Hydrogencarbonat im Urin
Anomalie der Calcium-Konzentration im Urin
Eine Anomalie-Calcium-Konzentration im Urin
Anomalie der Katecholamine-Konzentration im Urin
Anomalie der Morphologie des Hinterhirn
Anomalie des Metencephalon
Anomalie der Zehen
Finger
Anomalie der Morphologie der langen Knochen
Anomalie der Fontanellen
Eine Anomalie der Fontanelle
Anomalie der Fontanellen
Anomalie der Schädelnähte
Parry-romberg-syndrom
Anomalie der Mundgröße
Anomalie der Mundform
Anomalie des sechsten Hirnnerven
Allgemeine Anomalie der Haut
Regional begrenzte Anomalie der Haut
Anomalie der Haardichte
Eine Anomalie der Dichte der Haarwuchs
Anomalie des Haarwachstumsrate
Weisses Haar
Akanthose
Mongolenfleck
Aplasie des Innenohres
Morphologischen Anomalie des zentrale Hohlraum des knöchernen Labyrinths des Innenohres
Aplasie der Vorhalle
Morphologischen Anomalie des Bogengangs
Aplasie des Bogengangs
Anomalie des inneren Gehörgangs
Aplasie des inneren Gehörgangs
Funktionale Anomalie des Innenohres
Eine Abnormalität der Funktion des Innenohres
Morphologische Abnormalität des Innenohres
Morphologische Abnormalität der Nerven des Innenohres
Anomalie des Nervus vestibularis
Aplasie des Nervus vestibularis
Anomalie des Nervus cochlearis
Anomalie der Plazentamembranen
Kaiserschnitt
Zangenentbindung
Schulterdystokie
Vorzeitige Plazentalösung
Anomalie der Chlorid-Homöostase
Anomalie der Medulla oblongata
Eine Anomalie der Medulla oblongata, die untere Hälfte des Hirnstamms
Anomalie der Funktion der zentralen Motorik
Anomalie der Koordination
Pelger-Huët-Anomalie
Funktionale Abnormalität des Mittelohrs
Eine Abnormalität der Funktion des Mittelohrs
Anomalie der Amboss
Anomalie des Hammers
Aplasie des Hammers
Aplasie des Steigbügels
Speiseröhrenkrebs
Aplasie der Gallenblase
Anomalie der Morphologie der kleinen Darmzotten
Anomalie des Tränenpünktchen
Anomalie des Tränenkanals
Anomalie der Tränendrüse
Anomalie der Hornhautdicke
Anomalie des Hornhautendothels
Anomalie der Descemet-Membran
Anomalie der Hornhautstroma
Anomalie des Hornhautepithels
Mydriasis
Polykorie
Aplasie der Fovea
Makulaödem
Druse
Anomalie des binokularen Sehens
Farbenblindheit
Monochromat
Monochromat
Dichromat
Farbenfehlsichtigkeit
Farbenfehlsichtigkeit
Farbenfehlsichtigkeit
Anomalie der Linsenform
Netzhautablösung
Entzündung des Glaskörpers
Ivemark-symptomenkomplex
Korrigierte transposition der großen arterien
Single ventricle
Mitralklappenstenose
Mitralklappenstenose
Anomalie der pulmonaren Situs
Anomalie der abdominalen Situs
Scimitar-Syndrom
Anomalie des Koronarsinus
Trikuspidalatresie
Stress-kardiomyopathie
Herzrhythmusstörung
Supraventrikuläre tachykardie
Kleinhirnblutung
Sinustachykardie
Sick-sinus-syndrom
Schenkelblock
Linksanteriorer hemiblock
Rechtsschenkelblock
Linksschenkelblock
Anomalie der Pulmonalvenen
Eine Anomalie der Pulmonalvenen
Anomalie der Gelenkbeweglichkeit
Anomalie der zentralen sensorischen Funktionen
Anomalie des Spiegeles von zirkulierendem Cortisol
Anomalie der Nebennierenmorphologie
Anomalie der Nebennierenphysiologie
Primärer hyperaldosteronismus
Hyperaldosteronismus
Anomalie der Hypophyse
Anomalie der Neurohypophyse
Anomalie der Nebenschilddrüsenmorphologie
Anomalie der Nebenschilddrüsenphysiologie
Anomalie der Schilddrüsenmorphologie
Hyperthyreose
Anomalie der Gesichtsweichteile
Anomalie der Muskelphysiologie
Anomalie der Muskelmorphologie
Anomalie des Gesichtsschädels
Anomalie der Mundschleimhaut
Anomalie der T-Zellen-Anzahl
Anomalie der T-Zell-Physiologie
Kammerflattern
Anomalie der Skelettmorphologie
Anomalie der Skelettphysiologie
Osteoblastom
Riesenzelltumor des Knochen
Parotitis
Entzündung der Ohrspeicheldrüse
Hämaskos
Multiples myelom
Anomalie der Flügel des Darmbein
Ischialgie
Abnorme Thrombozytenfunktion
Abnorme Thrombozytenzahl
Heparin-induzierte thrombozytopenie
Abnorme Thrombozytenmorphologie
Abnormales Plättchenvolumen
Hyphaema
Hyposphagma
Anomalie des zirkulierenden Fibrinogen
Thalassämie
Anomalie des Grundgelenk
Anomalie der Gelenkpfanne
Pleuraempyem
Anomalie des Kleinhirnstiel
Anomalie der oberen Kleinhirnstiel
Bronchiolitis obliterans
Atemwegsinfektion
Bronchiolitis
Entzündung der Bronchiolen
Aspirationspneumonie
Anomalie des Brustmuskel
Nicht-obstruktive Azoospermie
Obstruktive Azoospermie
Anomalie des Citrullin Stoffwechsel
Kupfermangel
Dysphagie
Zerebrale amyloidangiopathie
Dermographismus
Osteomyelofibrose
Heterotope Ossifikation
Anomalie der Neutrophilen-Physiologie
Anomalie der Neutrophilen-Morphologie
Anomalie des Vorhofscheidewand
Paranoia
Déjà-vu
Jamais-vu
Linsenluxation
Galaktosämie
Anomalie des Ornithin-Stoffwechsel
Ödem
Anomalie des Hormonspiegels im Urin
Lipom
Liposarkom
Oromandibuläre Dystonie
Spasmodische dysphonie
Anasarka
Postprandiale hypoglykämie
Aderhautmelanom
Knochenzyste
Anomalie der Acetylcarnitin Stoffwechsel
Organoazidopathie
Adie-syndrom
Persönlichkeitsstörung
Borderline-Persönlichkeitsstörung
Histrionische Persönlichkeitsstörung
Anomalie der Skelettmuskelfasergröße
Pyurie
Abnorme Urinfarbe
Abnorme Urinfarbe
Abnormer Uringeruch
Abnormer Uringeruch
Arteriitis
Anomalie der Morphologie der Bauchspeicheldrüse
Anomalie der Physiologie der Bauchspeicheldrüse
Eine Anomalie der Funktion des Pankreas
Anomalie der Physiologie des exokrinen Pankreas
Anomalie der Physiologie des endokrinen Pankreas
Anomalie des Spiegel von zirkulierenden Katecholamin
Anomalie des Mitochondrium
Glaukom
Anomalie des Spiegel von zirkulierendem Glukokortikoid
Anomalie des Spiegel von zirkulierendem Corticosteron
Anomalie der Kreatinstoffwechsel
Endometriumkarzinom
Hepatitis
Entzündung der Leber
Leberentzündung
Kehlkopfkrebs
Methämoglobinämie
Methylmalonazidurie
Uveitis
Prostatakrebs
Magenkarzinom
Anomalie der Stromazellen des Knochenmarks
Anomalie der Zellen des Erythroidlinie
Anomalie der Zellen der Granulozyten-Linie
Anomalie der Zellen der lymphoiden Linie
Anomalie der Zellen der Megakaryozyten-Linie
Anomalie der Zellen der Monozyten-
Makrophagen-Linie
Anomalie mehrerer Zelllinien des Knochenmarks
Anomalie des von Willebrand Faktor
Hämatothorax
Anhedonie
Asterixis
Oligodaktylie
Skin picking disorder
Trichotillomanie
Onychophagie
Glioblastom
Apc-Resistenz
Anomalie der natürlichen Killerzellen
Meige-syndrom
Nervenkompressionssyndrom
Hyperemesis gravidarum
Hodgkin-Lymphom
Anaplastisch-großzelliges lymphom
Cheyne-stokes-atmung
Insulinom
Cluster-Kopfschmerz
Anomalie des Prothrombin
Nagelpilz
Abnorme Beweglichkeit der Spermien
Verringerte Beweglichkeit der Spermien
Unbewegliche Spermien
Juvenile myelomonozytäre leukämie
Abnorme Nierenmorphologie
Abnorme Nierenphysiologie
Erythema nodosum
Milzruptur
Antigen-antikörper-reaktion
Harnröhrenstriktur
Spannungskopfschmerz
Agranulozytose
Anomalie der Neuralrohrschlusses
Aplasie der Lymphgefäße
Atransferrinämie
Anomalie der Substantia nigra
Anomalie der peripheren Nerven
Ewing-sarkom
Anomalie des Mediastinums
Abnormalität der Brusthöhle
Jede Anomalie in der Menge von Glycogen im Muskelgewebe
Anomalie der Kiefermuskeln
Anomalie des Serin-Stoffwechsel
Eine Abnormalität eines Serinstoffwechsel
Aszites
Anomalie des brachialis Plexus
Anomalie des lumbosakralen Nervengeflecht
Jede Strukturanomalie des Hypothalamus
Kopf-hals-karzinom
Anomalie der Hodengröße
Eine Anomalie der Größe der Hoden
Anomalie des Hinterhauptbein
Herpes-simplex-enzephalitis
Anomalie des Aortenbogen
Eine Anomalie des Aortenbogens
Eine Anomalie im Prozess der Bildung Rippenknochen
Monozytose
Okzipital-neuralgie
Chronische myelomonozytäre leukämie
Anomalie des Truncus coeliacus
Truncus-coeliacus-kompressionssyndrom
Pyelonephritis
Anomalie des Folatstoffwechsel
Abnormale Glykosylierung
Anomalie der Wangenknochen
Hyperplasie des Mittelgesichtes
Abnormale Augenmorphologie
Eine strukturelle Anomalien des Auges
Abnormale Augenphysiologie
Eine funktionelle Anomalie des Auges
Anomalie der Augapfel
Eine Anomalie des Augapfels
Chemosis
Hemianopsie
Rhinitis
Entzündung der Nasenschleimhaut mit verstopfte Nase
Kamptodaktylie
Aplasie der Großzehe
Bronchitis
Akute bronchitis
Analfissur
Allergie
Allergen
Dekubitus
Erworbene isolierte aplastische anämie
Hyperkapnie
Hypokapnie
Hypoxämie
Sauerstofftoxikose
Obstipation
Chorioretinitis
Chronisches erschöpfungssyndrom
Eine strukturelle Anomalie der Gallenblase
Eine funktionelle Anomalie der Gallenblase
Anomalie der Gallenwege
Anomalie der Hirnmorphologie
Hirnatrophie
Abnormale Myelinisierung
Verzögerte Myelinisierung
Verzögerte Myelinisierung
Entzündung der Gelenkinnenhaut des Iliosakralgelenk
Restless-legs-syndrom
Cluster-kopfschmerz
Bakteriurie
West-syndrom
Anomalie der Hirnvenen
Eine Anomalie der Hirnvenen
Myelitis
Entzündung des Rückenmarks
Lipogranulom
Entzündung des Fettgewebes
Anomalie der weißen Substanz des Hirnstamm
Anomalie der Capsula interna
Anomalie der Hirnanhangdrüse
Eine Anomalie der Hypophyse
Metamorphopsie
Anomalie des Circulus arteriosus cerebri
Naevus araneus
Schmerz
Chronisches schmerzsyndrom
Allodynie
Dysästhesie
Nahrungsmittelunverträglichkeit
Non-hodgkin-lymphom
Kephalhämatom
Anomalie des Nephrons
Membranöse glomerulonephritis
Minimal-change-glomerulonephritis
Bilaterale Nierendysplasie
Einseitige Nierenhypoplasie
Bilaterale Nierenhypoplasie
Atrophie der Niere
Bilaterale Nierenatrophie
Hämaturie
Albuminurie
Mikroalbuminurie
Milde Proteinurie
Moderate Proteinurie
Schwere Proteinurie
Anomalie der Harnsäurekonzentration in den Harnwegen
Kloakenanomalie
Chronisches Nierenversagen
Anomalie der Trabekelwerk
Zentralvenenthrombose
Anomalie der Physiologie des Nervensystem
Eine funktionelle Anomalie des Nervensystems
Anomalie der Morphologie des Nervensystems
Eine strukturelle Anomalie des Nervensystems
Anomalie des Hirndrucks
Lageanomalie des hodens
Abasie
Status asthmaticus
Regionale Anomalie der linksventrikulären Wandbewegung
Synkope
neural vermittelte synkope
Sinus caroticus
Abulie
Akinetischer Mutismus
Aplasie der oberen Vagina
Aplasie der unteren Vagina
Anomalie der Zirbeldrüse
Anomalie der Morphologie der Zirbeldrüse
Pinealiszyste
Anomalie der Physiologie der Zirbeldrüse
Eine funktionelle Anomalie des Dickdarms
Tenesmus
Anomalie der Subarachnoidalraum
Unguis incarnatus
Morphologische Abnormalität des Gastrointestinaltraktes
Funktionale Abnormalität des Gastrointestinaltraktes
Arteriovenöse malformation
Sa-block
Aglossie
Fehlen der Zunge
Anorektale Anomalie
Eine Anomalie der Anus oder Rektum
Husten
Husten
Papillom
Stammfettsucht
Eine strukturelle Anomalie eines Neurons
Entwicklungsbeeinträchtigung
Neurologische Entwicklungsanomalie
Asthma cardiale
Anomalie des Ziliarkörpers
Entzündungen des Binde- und Fettgewebes um die Nieren
Anomalie der Papille
Lymphangioleiomyomatose
Anisometropie
Hornhautulcus
Non-compaction-kardiomyopathie
Myokarditis
Entzündungen des Herzmuskels
Schwere
Intensität
Mild
Mäßig
Borderline
Schwer
Profund
Position
Lateralität
Bilateral
Unilateral
Rechts
Rechtsseitig
Links
Linksseitig
Allgemein
Generalisiert
Lokalisiert
Örtlich begrenzt
Distal
Proximal
Ovotestis
Jede strukturelle Anomalie einer Keimzelle
Eine strukturelle Anomalie eines männlichen Fortpflanzungszelle
Eine strukturelle Anomalie der Spermien
Spermienkopf-Anomalie
Spermienhals-Anomalie
Spermienmittelstück-Anomalie
Spermienschwanz-Anomalie
Anorchie
Varikozele
Kongenitale bilaterale Aplasie des Vas Deferens
Vorzeitiger Samenerguss
Retrograde Ejakulation
Ejaculatio retarda
Anejakulation
Ejaculatio retarda
Anomalie der kleinen Schamlippen
Anomalie der großen Schamlippen
Ovarialzyste
Abnormalität des Gebärmutterhalses
EMG: Abnorme Repetitive Nervenstimulation
Lagophthalmus
Kapillarlecksyndrom
Aplasie des Zervix
zervikale Aplasie
Dyspareunie
Vaginismus
Anomalie der Nasenknorpel
Eine morphologische Anomalie der Nasenknorpel
Enchondrom
Anomalie der Seitenventrikel
Herdenzephalitis
Narkolepsie
Kraniopharyngeom
Neurozytom
Primitiv neuroektodermaler Tumor
Paragangliom
Duktales Karzinom in situ
Lobuläres karzinom in situ
Zervixkarzinom
Burkitt-Lymphom
Klinodaktylie
Anomalie der Gebärmutterschleimhaut
Endometriose
Anomalie der hinteren Haaransatzes
Borborygmus
Herzgeräusch
Gallengangskarzinom
Akutes skrotum
Bauchschmerz
Portioerosion
Entzündungen der Zervix
Nachtschweiß
Anomalie der Elektrophysiologie des peripheren Nervensystems
Anomalie der Elektrophysiologie des Zentralnervensystems
Tremor
Paradoxe atmung
Messie-syndrom
Apathie
Hypersexualität
Trägheit
Punding
Seelenblindheit
Perseveration
Anomalie der Muskelmasse
Pfortaderthrombose
Budd-chiari-syndrom
Mesenterialinfarkt
Enanthem
Anomalien der distalen Metaphysen des Oberschenkels
Mundwinkelrhagade
Anomalie der A. vertebralis
Anomalie des Eicosanoidstoffwechsels
Anomalie des Thromboxan-Stoffwechsel
Anomalie des Leukotrienstoffwechsels
Glucagonom
Neuroendokriner tumor
Pineoblastom
Vulvakrebs
Spermatozele
Juveniles nasenrachenfibrom
Neurom
Osteochondrom
Chondroblastom
Osteoid-osteom
Pilomatrixom
Merkelzellkarzinom
Weichteilsarkom
Anomalie des Musters visuell evozierten Potentiale
Anomalie des Musters des Einsetzen
Aussetzen visuell evozierten Potentiale
Anomalie der Pigmentierung der Fovea
Anomalie der Makulagefäße
Retinoschisis
Hemianopsie
Anomalie des Sehschärfetests
Anomalie des Farbsehtest
Zentral
Peripher
Parazentraler
Perizentral
Fokal
Multifokal
Diffus
Anormalidad de la estatura
Displasia renal multiquística
Anormalidad de los genitales internos femeninos
Anormalidad funcional de la vejiga
Infecciones del tracto urinario a repetición
Vejiga neurogénica
Urgencia urinaria
Hipoplasia del útero
Anormalidad de la vejiga
Divertículo vesical
Retención urinaria
Nicturia
Dificultad para la micción
Incontinencia urinaria
Megavejiga
Anormalidad de los genitales internos masculinos
Hernia inguinal
Prostatitis
Anormalidad funcional de los genitales internos masculinos
Hipogonadismo masculino
Azoospermia
Criptorquidia
Atrofia testicular
Gonadoblastoma testicular
Epididimitis
Anormalidad de los genitales externos masculinos
Genitales ambiguos, masculino
Hidrocele testicular
Anormalidad del testículo
Anormalidad del pene
Pseudohermafroditismo masculino
Epispadias
Pene agrandado
Incurvación congénita del pene
Genitales externos ausentes
Hipogonadismo hipogonadotrófico
Anormalidad del escroto
Hipoplasia escrotal
Hipospadias
Escroto bífido
Escroto en chal
Genitales externos masculinos hipoplásicos
Hipospadias perineales
Atresia uretral, hombre
Macroorquidia
Micropene
Anormalidad de los genitales externos femeninos
Anormalidad del clítoris
Clitoromegalia
Anormalidad de los labios
Labios mayores hipoplásicos
Hipoplasia del clítoris
Genitales ambiguos, hembra
Genitales ambiguos
Labios menores fusionados
Labios menores hipoplásicos
Hipertrofia labial
Hipoplasia labial
Atresia uretral, hembra
Atresia uretral
Anormalidad del uréter
Ureterocele
Estenosis ureteral
Hidrouréter
Duplicación ureteral
Obstrucción de la unión ureteropélvica
Duplicación renal
Reflujo vesicoureteral
Anormalidad del riñón
Anormalidad del sistema genital
Anormalidad del sistema urinario
Anormalidad de la fisiología genital
Duplicación del sistema colector
Insuficiencia renal
Riñón en herradura
Riñón ectópico
Hipoplasia renal
Nefronoptisis
Anormalidad del túbulo renal
Atrofia tubular
Proteinuria
Anormalidad del glomérulo
Glomeruloesclerosis
Glomeruloesclerosis focal y segmentaria
Talla alta
Glomerulonefritis
Síndrome nefrótico
Poliuria
Agenesia renal
Agrandamiento de los riñones
Quiste renal
Quistes renales corticomedulares
Displasia renal
Hipertrofia
hiperplasia de las células renales yuxtaglomerulares
Nefropatía
Displasia renal poliquística
Tubulopatía proximal
Perdida renal de fosfato
Anormalidad del sistema genitourinario
Nefrocalcinosis
Agenesia renal unilateral
Nefritis
Disfunción renal tubular
Riñón pélvico
Hidronefrosis
Perdida renal de sal
Perdida de potasio urinario
Anormalidad del útero
Leiomioma uterino
Menorragia
Disgenesia gonadal
Hipogonadismo en mujer
Hipogonadismo
Útero bífido
Anormalidad del ovario
Quiste ovárico
Prolapso uterino
Anomalía del ciclo menstrual
Amenorrea
Anormalidad de la vagina
Fístula rectovaginal
Disminución de la fertilidad
Tabique vaginal transverso
Ovarios poliquísticos
Atresia vaginal
Gonadoblastoma ovarico
Gonadoblastoma
Aplasia del útero
Anomalía de la cabeza y el cuello
Anomalía de la boca
Boca ancha
Úlcera oral
Anomalía de la lengua
Macroglosia
Anomalía del labio
Boca estrecha
Hendidura central de labio
Glosoptosis
Anomalía de la cavidad oral
Anomalía de los dientes
Periodontitis severa
Anomalía de la encía
Fibromatosis gingival
Microglosia
Anomalía de la úvula
Anomalía del paladar
Hendidura de paladar
Hendidura submucosa de paladar duro
Anomalía del labio superior
Anomalía del labio inferior
Bermellón del labio inferior grueso
Lengua lobulada
Anomalía del movimiento de la lengua
Dificultad en los movimientos de la lengua
Hendidura del paladar blando
Rebordes alveolares anchos
Labio superior corto
Paladar estrecho
Anomalía del frenillo bucal
Frenillo oral accesorio
Úvula bífida
Boca abierta
Fosita o muesca  de labio inferior
Anomalía de la glándula parótida
Ausencia de conducto Stensen
Nódulos linguales
Frenillo lingual corto
Secuencia de Pierre-Robin
Hendidura oral
Hendidura del labio superior
Labios fruncidos
Glositis
Boca triangular
Trismus
Hiperplasia gingival
Telangiectasia del labio
Bermellón del labio superior grueso
Reborde alveolar secundario ancho
Xerostomía
Paladar alto
Bermellón del labio superior fino
Insuficiencia velofaríngea
Aumento de los surcos del dorso de la lengua
Hiperqueratosis gingival
Anomalía del sentido del gusto
Disminución del sentido del gusto
Sangrado gingival
Telangiectasia linguales
Teleangiectasia de la cavidad oral
Gingivitis
Eversión del bermellón del labio inferior
Borde del bermellón fino
Anomalía de la cabeza
Anomalía de las fontanelas y suturas craneales
Anomalía de la fontanela anterior
Fontanela anterior pequeña
Hidrocefalia
Fontanelas amplias
Anomalía del tamaño del cráneo
Abombamiento parietal
Trigonocefalia
Braquiturricefalia
Anomalía de los senos
Sinusitis
Braquicefalia
Aumento de la densidad ósea de la bóveda craneal
Microcefalia
Microcefalia progresiva
Sinusitis aguda
Macrocefalia
Fontanela anterior amplia
Turricefalia
Oxicefalia, forma cónica del cráneo
Anomalía de la mastoides
Mastoiditis
Asimetría craneal
Dolicocefalia
Occipucio prominente
Retraso del cierre de la sutura craneal
Anomalía de la cara
Aplanamiento malar
Muecas faciales
Cara pequeña
Cara estrecha
Cara larga
Anomalía de la mandíbula
Retrognatia
Rasgos faciales toscos
Edema facial
Cara ancha
Anomalía de la región ocular
Epicanto
Aumento del tejido adiposo facial
Anomalía del surco nasolabial
Filtro amplio
Anomalía de la frente
Anomalía de tejido adiposo facial
Pérdida de tejido adiposo facial
Mejillas rellenas, prominentes
Inserción anterior del cabello baja
Cara de muñeco
Hipotonía facial
Facies de máscara
Rostro ovalado
Anomalía de la musculatura facial
Prognatismo mandibular
Anomalía de la barbilla
Mentón afilado, barbilla puntiaguda
Microrretrognatia
Anomalía del tercio medio facial
Cara redonda
Anomalía de la región orbital
Hipertelorismo
Mioquimia facial
Filtro liso
Cara de pájaro
Cara cuadrangular
Surco nasolabial corto
Asimetría facial
Cara triangular
Anomalía del maxilar
Hipoplasia del maxilar
Hemangioma facial
Barbilla corta
Arcos superciliares prominentes
Frente amplia
Cara hipomímica
Facies pugilística
Frente huidiza
Frente estrecha
Filtro largo
Apariencia de estar silbando
Micrognatia
Frente alta
Pico de viuda
Frente pequeña
Anomalía del oído externo
Posición anormal de las orejas
Orejas con aumento de la rotación posterior
Anomalía del oído interno
Tinnitus
Acúfeno pulsátil
Otosclerosis
Anomalía del lóbulo de la oreja
Anomalía de la audición
Discapacidad auditiva
hipoacusia
Anomalía de la nariz
Orejas de implantación baja y con aumento de la rotación posterior
Orejas de implantación baja
Anomalía del oído medio
Otitis media aguda
Anomalía del conducto auditivo
Anomalía de cóclea
Partición incompleta del tipo cóclea II
Anomalía del pabellón auricular
Oreja en taza
Anquilosis del estribo
Anomalía de la región periauricular
Apéndice cutáneo preauricular
Lóbulo de la oreja pequeño
Lóbulo de la oreja ausente
Otitis media
Otitis media crónica
Hélix grueso
Hipoplasia del tercio superior del pabellón auricular
Anti-hélix prominente
Sobreplegamiento del hélix
Discapacidad auditiva
hipoacusia neurosensorial prelingual
Macrotia
Estenosis del conducto auditivo externo
Otitis media recurrente
Discapacidad auditiva
hipoacusia de conducción
Discapacidad auditiva
hipoacusia neurosensorial
Discapacidad auditiva
hipoacusia neurosensorial progresiva
Discapacidad auditiva
hipoacusia mixta
Oreja prominente, despegada
Atresia del conducto auditivo externo
Nariz bulbosa
Anomalía de las coanas
Nariz fina
Cresta nasal estrecha
Anomalía del tabique nasal
Tabique nasal corto
Epistaxis
Anomalía del puente nasal
Puente nasal prominente
Anomalía del alas nasales
Alas nasales subdesarrolladas
Puente nasal ancho
Anomalía de la mucosa nasal
Telangiectasia de la mucosa nasal
Anomalía de la punta nasal
Punta nasal deprimido
Cresta nasal convexa
Nariz ancha
Puente nasal estrecho
Nariz en forma de pera
Nariz prominente
Punta de la nariz triangular
Estenosis de coanas
Atresia de coanas
Narinas anchas de forma acampanada
Punta nasal ancho
Punta de la nariz bífida
Cresta nasal deprimido
Anosmia
Nariz estrecha
Narinas antevertidas
Anomalía del cuello
Cuello alado
Movimiento del cuello limitado
Debilidad muscular del cuello
Aumento del tejido adiposo alrededor del cuello
Cuello corto
Angiodisplasia gastrointestinal
Cuello largo
Tortícolis
Engrosamiento de los pliegues cutáneos de la nuca
Cuello ancho
Higroma quístico
Anomalía del ojo
Anomalía de la retina
Coloboma de retina
Anomalía de la córnea
Microcórnea
Astigmatismo
Astigmatismo hipermétrope
Megalocórnea
Estrabismo
Estrabismo congénito
Retinopatía
Ojos hundidos
Queratitis
Anomalía del párpado
Anomalía de la fóvea
Hendiduras palpebrales de oblicuidad descendente
Erosiones corneales recurrentes
Anomalía del movimiento ocular
Retracción del globo y desviación en abducción
Blefaritis
Anomalía de las pestañas
Glaucoma
Anomalía de la conjuntiva
Tortuosidad de los vasos conjuntivales
Alteración de la visión
Deficiencia visual
Telecanto
Ptosis
Conjuntivitis
Retinitis pigmentosa
Parálisis supranuclear vertical
Electrorretinograma anormal
Movimientos oculares sacádicos lentos
Anomalía del cristalino
Catarata
Catarata congénita
Proptosis
Alacrimia
Catarata subcapsular
Telangiectasia conjuntival
Anomalía del iris
Aniridia
Pestañas largas
Anoftalmia
Pérdida visual progresiva
Cristales corneales
Anomalía coriorretiniana
Atrofia coriorretiniana
Anomalía de la ceja
Cejas poco pobladas
Epicanto inverso
Pseudopapiledema
Alteración de refracción
Hipermetropía
Desprendimiento de retina
Aducción ocular alterada
Palidez del disco óptico
Oftalmoplejia externa
Miopía
Lesiones de retina
Degeneración tapetoretinal
Distrofia de conos y bastones
Movimiento conjugado ocular anormal
Electrorretinograma  abolido
Anomalía de la visión de color
Tritanomalía
Anomalía de la úvea
Uveítis
Leucocoria
Distrofia de retina
Buftalmos
Anomalía de Rieger
Cicatrización de la córnea
Ausencia de pestañas
Queratocono
Atresia del conducto lacrimal
Esotropia
Coloboma coriorretiniano
Microftalmos
Alteración de los movimientos oculares sacádicos
Movimientos sacádicos hipométricos
Pérdida visual
Hemorragia retiniana
Ceja gruesa
Escotoma
Escotoma centrocecal
Exotropia
Obstrucción del conducto nasolacrimal
Retinopatía pigmentaria
Blefarofimosis
Hendidura palpebral ascendente
Erosión punctata del epitelio corneal
Queratopatía en banda
Orbitas poco profundas
Anomalía del nervio óptico
Coloboma del nervio óptico
Coloboma
Oftalmoplejia externa progresiva
Anomalía de la esclerótica
Escleróticas azules
Alteración de movimientos oculares sacádicos de la cámara anterior
Cámara anterior poco profunda
Oftalmoparesia
Anomalía de la oreja
Anomalía de la línea de implantación frontal
Anomalía de la faringe
Hipotelorismo
Oftalmoplegia
Escotoma central
Parálisis supranuclear
Anomalía de la región periorbitaria
Arrugas periorbitarias
Degeneración macular
Hipoplasia del nervio óptico
Anomalía de la coroides
Coloboma del iris
Fotofobia
Anomalía del sistema nasolacrimal
Anomalía de la pupila
Miosis
Alteración del seguimiento ocular
Ceguera
Deterioro de convergencia
Dacriocistitis
Entropion
Visión borrosa
Oftalmoplejia supranuclear
Hendidura del párpado
Embriotoxon posterior
Relleno periorbitario
Anomalía de las arterias de la retina
Tortuosidad arterial retiniana
Alteración del lagrimeo
Disminución del lagrimeo
Abducción ocular alterada
Iris azul
Coloboma del párpado superior
Hendidura palpebral larga
Nistagmo
Nistagmo evocado
Movimientos sacádicos dismétricos
Discromatopsia rojo-verde
Blefaroespasmo
Ambliopía
Esclerocórnea
Atrofia óptica
Alteración de los potenciales evocados visuales
Amplitud reducida de los patrones en los potenciales evocados visuales
Diplopia
Coloboma del párpado inferior
Pestañas escasas
Disminución de la amplitud en electrorretinograma
Degeneración vitreorretiniana
Ectropion o eversión del párpado
Apraxia oculomotora
Apraxia del párpado
Anomalía de Peters
Lipemia retiniana
Estrechamiento de la hendidura palpebral en aducción
Ceguera nocturna
Sinofridia
Nistagmo horizontal
Ptisis bulbi
Hipodoncia
Dientes cariados
Anodoncia
Macrodoncia del incisivo central superior permanente
Anomalía del incisivo
Oligodoncia
Apiñamiento dental
Taurodoncia
Retraso en la erupción de los dientes primarios
Anomalía del esmalte dental
Esmalte dental grisáceo o descolorido
Retraso en la erupción de los dientes
Hipoplasia de los dientes
Dientes separados
Maloclusión dental
Agenesia del incisivo lateral superior
Microdoncia
Dientes mal alineados
Dientes en concha
Diente natal
Retraso en la erupción de los dientes permanentes
Diente cónico
Diastema
Radiolucencia periapical
Dentinogénesis imperfecta
Periodontitis
Amelogénesis imperfecta
Diente incluido
Anomalía del sistema nervioso
Alteración comportamental
Psicosis
Hiperoralidad
Inquietud
Labilidad emocional
Agitación
Depresión
Autismo
Comportamiento agresivo
Comportamiento inadecuado
Cambios de humor exagerados
Falta de juego espontáneo
Comportamiento obsesivo-compulsivo
Comportamientos limitados repetitivos
Episodios psicóticos
Demencia
Demencia del lóbulo frontal
Alteración para la habilidad de establecer relaciones con compañeros
Comportamiento autista
Inflexibilidad para adherirse a rutinas o rituales
Comportamiento estereottipado
Desinhibición
Interacciones sociales deteriorados
Período de atención cortos
Irritabilidad
Alucinaciones
Ansiedad
Ansiedad
Apatía
Automutilación
Signos de liberación frontal
Baja tolerancia a la frustración
Disminución de la motivación
Delirios
Risa inapropiada
Episodios paroxísticos de risa
Retraso del lenguaje y la comunicación
Cambios en la personalidad
Hiperactividad
Autismo con capacidad cognitiva alta
Agorafobia
Falta de visión
Deterioro de la capacidad de usar comportamientos no verbales
Anomalía del sistema nervioso periférico
Disminución en la velocidad de conducción nerviosa
Neuropatía sensorial
Degeneración axonal periférica
Anomalía del tórax
Anomalía del esternón
Pectus excavatum
Pectus carinatum
Anomalía de la mama
Ginecomastia
Anomalía de las costillas
Costillas cortas
Tórax estrecho
Anormalidad del diafragma
Hernia diafragmática congénita
Anomalía del timo
Hipoplasia del timo
Anomalía de la escápula
Amenorrea primaria
Litiasis renal
Infertilidad
Hematuria
Nefrolitiasis por ácido úrico
Glomerulonefritis membranoproliferativa
Deposición en el glomérulo de iga
Anormalidad de la uretra
Obstrucción uretral
Oligospermia
Esteatosis renal
Displasia renal quística
Impotencia
Quistes corticales renales
Nefrolitiasis xantina
Enuresis
Hipospadia glandular
Hipospadias penoescrotal
Atresia de las vías urinarias
Genitales externos anormales
Genitales internos anormales
Útero bicorne
Hipogonadismo hipergonadotrópico
Anormalidad del metabolismo de la acetilcarnitina
Pobre contacto visual
Alteración del sistema endocrino
Diabetes mellitus
Alteración de la glándula tiroides
Hipotiroidismo
Hipertensión
Retraso puberal
Déficit de hormona de crecimiento
Hipoglucemia hiperinsulinémica
Pubertad precoz
Alteración de la glándula paratiroides
Hipoparatiroidismo
Hipopituitarismo anterior
Diabetes mellitus resistente a insulina
Hipotiroidismo primario
Intolerancia a la glucosa
Alteración de las glándulas suprarrenales
Hipoplasia suprarrenal
Hipertiroidismo
Exceso de gonadotropina
Enanismo hipofisario
Síndrome adrenogenital
Sistema renina-angiotensina hiperactivo
Hiperinsulinemia
Hiperparatiroidismo
Exceso de hormona del crecimiento
Insuficiencia suprarrenal
Alteración del sistema renina-angiotensina
Aumento del nivel circulante de renina
Alteración de la corteza suprarrenal
Hipotiroidismo congénito
Pseudohipoparatiroidismo
Bocio
Adenoma tiroideo
Resistencia a la insulina
Diabetes mellitus neonatal insulino-dependiente
Irregularidades menstruales
Hiperaldosteronismo
Hipoplasia paratiroidea
Diabetes insípida central
Alteración del eje hipotálamo-hipofisario
Bocio multinodular eutiroideo
Hiperparatiroidismo secundario
Disminución de la fertilidad en las mujeres
Amenorrea secundaria
Exceso de prolactina
Panhipopituitarismo
Tiroiditis de Hashimoto
Diabetes insípida
Hipertensión episódica
Oligomenorrea
Diabetes mellitus resistente a insulina en la pubertad
Once pares de costillas
Esternón corto
Escápulas hipoplásicas
Costillas delgadas
Esternón prominente
Costillas anchas
Caja torácica deforme
Costillas con extremos en copas
Costillas horizontales
Anomalía de las clavículas
Clavículas largas
Costillas cervicales
Costillas bífidas
Protrusión de la unión costocondral
Clavículas cortos
Clavículas en forma de gancho
Exostosis costal
Rosario costal
Engrosamiento costal
Fusión costal
Tórax en forma de campana
Acrosteólisis clavicular progresiva
Costillas con extremos anteriores "en copa"
Uniones costocondrales ensanchadas y en forma de copa
Fosa glenoidea plana
Anomalía de Sprengel
Fusión costal posterior
Tórax ancho
Pectus excavatum región inferior del esternón
Clavículas anchas
Pectus carinatum superior
Exostosis escapular
Anomalía de la unión costocondral
Agrandamiento de la unión costocondral
Ausencia costal
Ausencia de costillas
Costilla posterior ahuecada
Costillas en rosario
Anomalía del sistema esquelético
Anomalía de la columna vertebral
Platispondilia
Anomalía de la maduración esquelética
Anomalía del cráneo
Impronta elevada de los senos transversos
Adelgazamiento y abultamiento de los huesos de la fosa posterior
Anomalía de la fosa craneal posterior
Quiste de fosa posterior en el cuarto ventrículo
Condrocalcinosis
Engrosamiento cortical huesos largos
Osteopenia
Osteoporosis
Morfología anormal de las diáfisis
Diáfisis cortas
Disostosis múltiple
Anomalía de las metáfisis
Hipoplasia de ilíacos
Huesos largos en forma de mancuernas
Anormalidad de la piel
Ictericia
Hiperpigmentación de la piel
Pliegue palmar transverso único
Acantosis pigmentaria
Manchas café con leche
Piel seca
Hoyuelo sacro
Cianosis
Hiperqueratosis
Piel fina
Eczema
Piel marmórea
Hipohidrosis
Petequias
Displasia ectodérmica
Edema
Anhidrosis
Anormalidad de la glándula del sudor
Hiperqueratosis palmoplantar
Cutis laxa
Piel hiperelástica
Hiperhidrosis
Dermatitis eccematoide
Piel suave
Susceptibilidad a moretones
Púrpura
Palidez
Queratoderma palmoplantar
Cicatrización atípica de la piel
Erupción cutánea
Prurito
Xantomatosis
Fotosensibilidad cutánea
Pseudotumores moluscoides
Nevos melanocíticos
Hemangioma capilar facial
Pecas axilares
Hipertricosis
Pioderma
Anormalidad de la pigmentación de la piel
Anormalidad del tejido graso subcutáneo
Disminución de la grasa subcutánea
Lentigos múltiples
Linfedema
Manifestaciones dermatológicas de trastornos sistémicos
Hipotricosis
Hirsutismo
Acumulación de melanosomas en los melanocitos
Telangiectasia
Hipopigmentación de la piel
Diaforesis
Lipomas múltiples
Xantomas eruptivos
Angioqueratoma
Venas superficiales prominentes
Palidez anémica
Dermatoglifos palmares anormales
Eritroderma
Albinismo
Hoyuelos cutáneos sobre prominencia ósea
Urticaria
Úlceras perforantes del pie
Piel suave, de consistencia pastosa
Hemangioma
Poiquilodermia
Piel frágil
Lipoma subcutáneo
Ausencia de pliegues interfalángicos distales
Rubor facial después de la ingesta de alcohol
Mácula hipermelanótica
Paraqueratosis
Necrosis cutánea inducida por warfarina-
Xantoma en piel secundario a las alteraciones de los lípidos
Pterigión múltiple
Eritema facial
Trirradio axial alto
Venas del cuero cabelludo prominentes
Vitíligo
Ictericia intermitente
Dermatitis atópica
Hemangioma cavernoso
Pliegues de la piel dorsal ausentes sobre articulaciones afectadas
Plétora
Dermatitis seborreica
Nevus flammeus
Manchas hipopigmentadas de la piel
Nevos numerosos
Erisipela
Milia
Aplasia cutis congénita
Mala curación de las heridas
Pterigión
Pterigión axilar
Acné
Nevus atípicos
Acrocianosis
Estrías de distensión cutánea
Neurofibromas
Hiperhidrosis episódica
Pigmentación moteada
Angioqueratoma difuso corporal
Engrosamiento de la piel
Cicatrices en papel de cigarrillo
Nevus atípicos en zonas no expuestas al sol
Cicatrices atróficas
Hemangioma glabelar
Anomalía del tracto biliar
Colelitiasis
Colecistitis
Ectopia del cristalino
Arco corneal
Papiledema
Glaucoma congénito
Manchas de Brushfield
Atrofia del iris
Ojos grandes
Punto lacrimal ausente
Displasia del nervio óptico
Iridociclitis
Retinopatía hipertensiva
Queratoconjuntivitis
Queratoconjuntivitis sicca
Anomalía del fondo de ojo
Atrofia del fondo de ojo
Heterocromía del iris
Iritis
Estrías angioides de retina
Anomalía de la mácula
Hipoplasia macular
Atrofia de la retina
Hiperpigmentación periorbitaria
Albinismo ocular
Atrofia óptica de Leber
Xantelasma
Catarata polar posterior
Coloboma macular
Pérdida visual central súbita
Catarata juvenil
Queratoglobo
Anomalía del tamaño corneal
Defecto del campo visual
Visión borrosa hemianópica
Criptoftalmia
Triquiasis
Amplio defecto central del campo visual
Distrofia corneal
Subluxación del cristalino
Reducción del campo visual
Catarata polar anterior
Distrofia coriorretiniana
Tortuosidad arteriolar retiniana
Esotropia alterna
Neuropatía óptica
Coroideremia
Dermoide epibulbar
Discapacidad visual grave
Lenticono
Quiste de la órbita
Degeneración retiniana pigmentaria
Exudado de retina
Distrofia corneal Reticular
Deterioro de seguimiento lento horizontal
Seguimiento sacádico lento
Vagina septada
Anomalía de la mano
Síndrome con braquidactilia
Sindactilia
Polidactilia de la mano
Polidactilia postaxial de la mano
Anomalía de los huesos metacarpianos
Aracnodactilia
Anomalía del dedo de la mano
Palma de la mano ancha
Mano hendida
Anomalía del pulgar
Manos grandes
Polidactilia en mano preaxial
Garra cubital
Oligodactilia
Pulgar en aducción
Dedo de la mano cónico
Hiperextensibilidad de las articulaciones de los dedos de la mano
Mano en garra
Anomalía de los huesos del carpo
Desviación cubital de la mano o de los dedos de la mano
Anomalías de placenta y cordón umbilical
Arteria umbilical única
Cordón umbilical corto
Anomalía del desarrollo prenatal o el parto
Pulgar trifalángico
Sinfalangismo distal
Anomalía de las yemas de los dedos
Almohadillas de la yema del dedo prominentes
Camptodactilia de segundo a quinto dedos de la mano
Retraso en la osificación de los huesos del carpo
Dedos hipocráticos
Autoamputación
Contractura de la articulación interfalángica de dedo de la mano
Pulgares espatulados
Segundo a quinto metacarpianos proximales en punta
Edema de la muñeca
Ulceración acral y osteomielitis que lleva a autoamputación de dedos de la mano
Anomalía de la eminencia tenar
Metacarpianos anchos
Anormalidad de las uñas
Telangiectasia en lecho ungueal
Sindactilia de dedos 2-3 de la mano
Pulgar en autostop
Dedo de la mano delgado
Contractura en flexión de la muñeca
Fusión carpo-ganchoso
Eminencia tenar pequeña
Huesos tubulares cortos
Discapacidad intelectual
Convulsiones
Ataxia
Hipotonía muscular
Letargo
Discapacidad intelectual leve
Espasticidad
Paraplejia espástica
Coma
Disartria
Somnolencia
Retardo global del desarrollo
Diplejía espástica
Hiporreflexia
Coreoatetosis
Deterioro mental
Hemiparesia
Retraso motor
Polineuropatía
Atrofia cerebelosa
Anomalía del cuerpo calloso
Agenesia del cuerpo calloso
Hipertonía
Hipotensión ortostática
Síncope
Tetania
Parálisis bulbar
Arreflexia
Tetraparesia espástica
Meningitis
Alteración en la marcha
Confusión
Hipotonía generalizada
Anomalía de los pares craneales
Compresión de algún nervio craneal
Accidente cerebrovascular
Encefalopatía
Parkinsonismo
Polineuropatía neurosensorial crónica
Paquigiria
Distonía de torsión
Anomalía de Dandy-Walker
Fasciculaciones linguales
Dismetría
Electrofisiología anormal del sistema nervioso
Potenciales evocados somatosensoriales gigantes
Reducción de los reflejos osteotendinosos
Anomalía del cerebelo
Hipotonía neonatal
Hipoplasia del vermis cerebeloso
Hipoplasia cerebelosa
Cerebro pequeño
Debilidad muscular
Coma hipoglicémico
EEG con espigas generalizadas irregulares y complejos de ondas
Convulsiones fotomioclónicas
Discapacidad de aprendizaje específica
Ausencia del septum pelucidum o septo pelúcido
Distonía
Hidrocefalia comunicante
Sinkinesia bimanual
Mioclono
Temblor
Agenesia parcial del cuerpo calloso
Lisencefalia
Mejoría del reflejo C
Agenesia del lóbulo olfativo
Hemorragia cerebral
Kernícterus
Ausencia del lenguaje
Ideación psicótica
Hiperreflexia
Reflejos osteotendinosos exaltados
Diplejía facial
Habla arrastrada
Intentos de pre-mioclono bloqueados
Megalencefalia
Plagiocefalia
Holoprosencefalia
Nistagmo inducido por movimiento de la cabeza
Defecto craneal óseo
Craneosinostosis
Morfología articular anormal
Artritis
Artritis reumatoide
Contractura en flexión
Luxación articular
Luxación congénita de cadera
Limitación de la movilidad de las articulaciones
Limitación en la extensión del codo
Enfermedad articular degenerativa
Laxitud ligamentosa
Hiperlaxitud articular
Anomalía de la articulación de la cadera
Displasia de cadera
Inflamación articular
Rigidez articular
Laxitud articular
Anormalidad del hígado
Cirrosis
Fibrosis hepática
Colestasis
Esteatosis hepática
Insuficiencia hepática
Abscesos hepáticos secundarios a inmunodeficiencia
Disgenesia biliar intrahepática
Carcinoma hepatocelular
Esteatosis hepática macrovesicular
Necrosis hepatocelular
Fibrosis periportal
Colestasis intrahepática
Quistes hepáticos
Proliferación de las vías biliares
Hipertensión portal
Disminución de la función hepática
Hepatitis enteroviral
Cirrosis micronodular
Esteatosis hepática microvesicular
Anomalía de la musculatura de la mano
Anomalía de la musculatura de la pantorrilla
Hepatoesplenomegalia
Anomalía de la musculatura de la cintura escapular
Anomalía de la musculatura del pie
Anomalía de la musculatura de las extremidades inferiores
Anormalidad del abdomen
Sinostosis comprometiendo huesos metatarsianos
Anomalía de la musculatura del muslo
Anomalía de la musculatura glútea
Anomalía de la musculatura de la cadera
Anomalía de la musculatura de los miembros superiores
Duplicación de los huesos metatarsianos
Anomalía de la parte superior del brazo
Anomalía de la musculatura de la parte superior del brazo
Sindactilia de dedos 1-3 del pie
Aplasia
hipoplasia de la musculatura
Aplasia
hipoplasia de la musculatura del hombro
Amiotrofia de la musculatura del hombro
Aplasia
hipoplasia de la musculatura de los miembros superiores
Aplasia
hipoplasia de la musculatura de la parte superior del brazo
Anomalía de la musculatura de la pelvis
Aplasia
hipoplasia de la musculatura de la pelvis
Osteólisis metatarsal
Escápulas esclerótica
Retraso del cierre de la fontanela anterior
Elevación compensatoria de barbilla
Pecas
Nódulo subcutáneo
Restregarse los ojos
Ptosis bilateral
Desprendimiento vítreo
Fibrosis congénita de los músculos extraoculares
Anomalía de Axenfeld
Pliegue retiniano falciforme
Osteólisis de los huesos carpianos
Hipoplasia de los huesos carpianos
Dedo ancho
Seis metacarpianos
Osteólisis metacarpiana
Anormalidad del crecimiento
Retraso en el medro
Retraso en el crecimiento
Retraso del crecimiento intrauterino
Obesidad
Pequeño para la edad gestacional
Talla alta desproporcionada
Grande para la edad gestacional
Fallo de crecimiento grave
Hemihipertrofia
Leve retraso en el crecimiento postnatal
Retraso en el medro en la primera infancia
Estructura delgada
Hernia umbilical
Abdomen protuberante
Hernia umbilical
Diástasis de rectos
Ascitis
Gastrosquisis
Ombligo prominente
Ano de implantación anterior
Anomalía de la caja torácica
Crecimiento excesivo
Anormalidad del íleon
Anormalidad del ombligo
Pecho en forma de barril
Asimetría del tórax
Movimientos prenatales anormales
Disminución de los movimientos fetales
Anomalía del líquido amniótico
Polihidramnios
Oligohidramnios
Poliuria fetal
Incisivos centrales superiores separados
Múltiples dientes impactados
Macrodoncia
Anormalidad del tegumento
Cambios de humor
Hipercortisolismo
Hipercorticolismo primario
Enfermedad adrenal micronodular pigmentada
Infecciones cutáneas recurrentes
Piel redundante
Nistagmo rotatorio
Fístula vesico-vaginal
Falla ovárica primaria
Tórax en forma de campana
Agenesia dental selectiva
Microdoncia del incisivo lateral superior
Anormalidad del cabello
Alopecia
Anormalidad de la uña
Uñas cóncavas
Alteración de la laringe
Laringomalacia
Estenosis laríngea
Paresia de cuerdas vocales
Parálisis de cuerdas vocales
Parálisis de cuerdas vocales
Estenosis subglótica
Anomalía de la voz
Voz ronca
Voz nasal
Llanto débil
Voz ronca
Llanto ronco
Disfonía
Voz aguda o de tono alto
Voz débil
Parto prematuro
Presentación podálica
Anomalía del sistema cardiovascular
Anomalía de la morfología cardíaca
Defecto septal ventricular
Defecto en el tabique auricular
Anomalía de la válvula mitral
Prolapso de la válvula mitral
Insuficiencia cardíaca congestiva
Tetralogía de Fallot
Anomalía del miocardio
Miocardiopatía
Miocardiopatía hipertrófica
Cardiomegalia
Anomalía de la válvula pulmonar
Estenosis pulmonar
Ductus arterioso permeable
Miocardiopatía dilatada
Muerte súbita cardíaca
Anomalía de la válvula aórtica
Válvula aórtica bicúspide
Cor pulmonale
Taquicardia
Estenosis de la válvula aórtica
Dextrocardia
Regurgitación mitral
Anomalía de las válvulas del corazón
Foramen oval permeable
Intervalo QT prolongado
Infarto de miocardio
Regurgitación aórtica
Tronco arterioso
Bradicardia
Fibrilación ventricular
Torsade de pointes
Hipertrofia ventricular derecha
Transposición de las grandes vasos
Hipertrofia septal asimétrica
Anomalía de los tabiques cardíacos
Taquicardia
Defecto del canal atrioventricular completo
Alteraciones del ritmo asociados con feocromocitoma
Palpitaciones
Enfermedad de la arteria coronaria
Bloqueo auriculoventricular
Anomalía de la aorta
Coartación de aorta
Angina de pecho
Estenosis subaórtica
Ectopia cordis
Comunicación interauricular ostium secundum
Fibrosis miocárdica
Pérdida de la voz
Bradicardia sinusal
Estenosis aórtica subvalvular muscular
Arritmia auricular primaria
Cortocircuito  cardíaco
Cortocircuito  de derecha a izquierda
Paro cardíaco
Situs inversus totalis
Mesotelioma maligno
Anomalía del pericardio
Pubertad adelantada
Derrame pericárdico
Mesotelioma peritoneal
Mesotelioma pleural
Necrosis miocárdica
Mesotelioma testicular
Pericarditis
Mesotelioma pericárdico
Anomalía de la válvula tricúspide
Neoplasia del sistema nervioso periférico
Neoplasia del sistema nervioso central
Prolapso de la válvula tricúspide
Meningioma intracraneal
Obstrucción de la salida del ventrículo derecho
Schwanoma
Fibroelastosis endocardial
Schwannoma escleral
Anomalía del ventrículo derecho
Meningioma espinal
Insuficiencia ventricular derecha
Neoplasia de mama
Bloqueo auriculoventricular de tercer grado
Neoplasia del ojo
Defecto conotruncal
Oreja de Stahl
Anomalía del ventrículo izquierdo
Membrana epirretiniana
Hipertrofia ventricular izquierda
Catarata capsular
Anomalía del ventrículo cardíaco
Anormalidad del mesenterio
Hipertrofia ventricular
Catarata cortical
Catarata nuclear
Síndrome de Wolff-Parkinson-White
Parálisis cerebral
Calcificación de la arteria coronaria
Catarata capsular posterior
Estenosis mitral
Movimientos de manos recurrentes
Doble salida del ventrículo derecho
Alteración del movimiento
Hipersociabilidad
Afecto inapropiado
Insuficiencia cardíaca congestiva de alto rendimiento
Pancreatitis recurrente
Miocardiopatía restrictiva
Malformación arteriovenosa
Dilatación aórtica
Tiroides lingual
Tiroides ectópico
Aumento de la prevalencia de la enfermedad valvular
Neoplasia del tiroides
Accidente cerebrovascular tromboembólico
Tejido tiroideo ectópico accesorio
Tics
Discapacidad auditiva
hipoacusia progresiva
Tics vocales
Tics motores
Anormalidad del páncreas
Anomalía del pelo del cuero cabelludo
Pancreatitis
Pseudo-fracturas
Páncreas anular
Engrosamiento cortical óseo
Pancreatitis aguda
Crecimiento lento del pelo del cuero cabelludo
Tercer dedo del pie ancho
Quistes pancreáticos
Segundo dedo del pie ancho
Insuficiencia pancreática exocrina
Quinto dedo del pie ancho
Anomalía de la nasofaringe
Cuarto dedo del pie ancho
Epífisis en forma de corchete del segundo dedo del pie
Fimosis
Epífisis ausentes del segundo dedo del pie
Obstrucción nasal
Epífisis agrandadas del segundo dedo del pie
Anomalía del bazo
Epífisis en forma de cono del segundo dedo del pie
Esplenomegalia
Epífisis irregulares del segundo dedo del pie
Fragmentación de las epífisis del segundo dedo del pie
Asplenia
Pseudoepífisis del segundo dedo del pie
Bazo accesorio
Epífisis de marfil del segundo dedo del pie
Poliesplenia
Punteado de la epífisis del segundo dedo del pie
Epífisis pequeña del segundo dedo del pie
Ventrículo único
Epífisis ausentes del tercer dedo del pie
Disfunción vestibular
Epífisis triangular del segundo dedo del pie
Epífisis en forma de cono del tercer dedo del pie
Epífisis en forma de corchete del tercer dedo del pie
Fragmentación de las epífisis del tercer dedo del pie
Epífisis agrandada de la tercer dedo del pie
Hipofunción vestibular
Epífisis de marfil del tercer dedo del pie
Discapacidad auditiva
hipoacusia neurosensorial para frecuencias altas
Epífisis irregulares del tercer dedo del pie
Epífisis pequeña del tercer dedo del pie
Pseudoepífisis de la tercer dedo del pie
Anomalía del pie
Epífisis triangular en el tercer dedo del pie
Pie cavo
Punteado de la epífisis del tercer dedo del pie
Talipes equinovaro
Epífisis en forma de corchete del cuarto dedo del pie
Pie plano
Epífisis ausentes del cuarto dedo del pie
Epífisis agrandadas del cuarto dedo del pie
Dedo del pie en martillo
Epífisis en forma de cono del cuarto dedo del pie
Epífisis irregulares del cuarto dedo del pie
Fragmentación de las epífisis del cuarto dedo del pie
Pseudoepífisis del cuarto dedo del pie
Pies anchos
Epífisis de marfil del cuarto dedo del pie
Sindactilia del dedo del pie
Punteado de la epífisis del cuarto dedo del pie
Contracturas del tendón de Aquiles
Epífisis pequeña del cuarto dedo del pie
Talipes equinovalgo
Epífisis ausentes del quinto dedo del pie
Pie corto
Epífisis triangular del cuarto dedo del pie
Epífisis en forma de cono del quinto dedo del pie
Tarso osteovalgo
Epífisis en forma de corchete del quinto dedo del pie
Talipes equinovaro bilateral
Fragmentación de las epífisis del quinto dedo del pie
Epífisis agrandadas del quinto dedo del pie
Epífisis de marfil del quinto dedo del pie
Epífisis irregulares del quinto dedo del pie
Anomalía del dedo del pie
Epífisis pequeña del quinto dedo del pie
Pseudoepífisis del quinto dedo del pie
Pulpejos de los dedos de los pies carnosos
Epífisis triangular del quinto dedo del pie
Metatarsos anchos
Punteado de la epífisis del quinto dedo del pie
Anomalía de la epífisis de la falange media del segundo dedo del pie
Hinchazón del tobillo
Anomalía de la epífisis de la falange distal del segundo dedo del pie
Pie estrecho - delgado
Anomalía de la epífisis de la falange distal del tercer dedo del pie
Parto anormal
Anomalía de la epífisis de la falange proximal del segundo dedo del pie
Ruptura prematura de membranas
Anomalía de la epífisis de la falange proximal del tercer dedo del pie
Hidropesía fetal
Anomalía de la epífisis de la falange media del dedo tercero del pie
Hidropesía fetal no inmunitaria
Anomalía de la epífisis de la falange media del cuarto dedo del pie
Ascitis fetal
Anomalía de la epífisis de la falange distal del cuarto dedo del pie
Uña pequeña
Anomalía de la epífisis de la falange distal del quinto dedo del pie
Anomalía de la epífisis de la falange proximal del cuarto dedo del pie
Anomalía de la epífisis de la falange proximal del quinto dedo del pie
Uñas hiperconvexas
Anomalía de la epífisis de la falange media del quinto dedo del pie
Epífisis en forma de corchete de la falange distal del segundo dedo del pie
Epífisis ausentes de la falange distal del segundo dedo del pie
Anoniquia
Epífisis agrandada de la falange distal del segundo dedo del pie
Uña corta
Epífisis en forma de cono de la falange distal del segundo dedo del pie
Hipoplasia de la uñas del pie
Epífisis irregular de la falange distal del segundo dedo del pie
Fragmentación de la epífisis de la falange distal del segundo dedo del pie
Uña ausente
Pseudoepífisis de la falange distal del segundo dedo del pie
Muescas punteadas  en las uñas
Epífisis de marfil de la falange distal del segundo dedo del pie
Hipoplasia de la uña
Punteado de la epífisis de la falange distal del segundo dedo del pie
Uña gruesa
Epífisis pequeña de la falange distal del segundo dedo del pie
Onicolisis
Epífisis ausentes de la falange media del segundo dedo del pie
Uñas con crestas
Epífisis triangular de la falange distal del segundo dedo del pie
Uñas frágiles
Epífisis en forma de cono de la falange media del segundo dedo del pie
Uña hendida
Epífisis en forma de corchete de la falange media del segundo dedo del pie
Uña de los pies distróficas
Fragmentación de la epífisis de la falange media del segundo dedo del pie
Epífisis agrandada de la falange media del segundo dedo del pie
Uñas hiperconvexas
Epífisis de marfil de la falange media del segundo dedo del pie
Epífisis irregular de la falange media del segundo dedo del pie
Uñas de implantación profunda
Epífisis pequeña de la falange media del segundo dedo del pie
Pseudoepífisis de la falange media del segundo dedo del pie
Uña fina
Epífisis triangular de la falange media del segundo dedo del pie
Uña ausente
Punteado de la epífisis de la falange media del segundo dedo del pie
Paroniquia
Epífisis en forma de corchete de la falange proximal del segundo dedo del pie
Epífisis ausentes de la falange proximal del segundo dedo del pie
Leuconiquia
Epífisis agrandada de la falange proximal del segundo dedo del pie
Uñas anchas
Epífisis en forma de cono de la falange proximal del segundo dedo del pie
Dedo gordo del pie valgus
Epífisis irregular de la falange proximal del segundo dedo del pie
Fragmentación de la epífisis de la falange proximal del segundo dedo del pie
Pérdida de peso
Pseudoepífisis de la falange proximal del segundo dedo del pie
Epífisis de marfil de la falange proximal del segundo dedo del pie
Punteado de la epífisis de la falange proximal del segundo dedo del pie
Atresia del tracto genital
Epífisis pequeña de la falange proximal del segundo dedo del pie
Anormalidad del vello púbico
Polidactilia de pie
Epífisis triangular de la falange proximal del segundo dedo del pie
Polidactilia postaxial del pie
Epífisis ausentes de la falange distal del tercer dedo del pie
Acortamiento del dedo gordo del pie
Anormalidad del vello axilar
Anomalía de los huesos metatarsianos
Epífisis en forma de cono de la falange distal del tercer deddo del pie
Dedos del pie largos
Epífisis en forma de corchete de la falange distal del tercer dedo del pie
Fragmentación de la epífisis de la falange distal del tercer dedo del pie
Epífisis agrandada de la falange distal del tercer dedo del pie
Camptodactilia del dedo del pie
Epífisis de marfil de la falange distal del tercer dedo del pie
Dedo del pie ancho
Epífisis irregular de la falange distal del tercer dedo del pie
Pie en mecedora - talo vertical congénito
Epífisis pequeña de la falange distal del tercer dedo del pie
Pie hendido
Pseudoepífisis de la falange distal del tercer dedo del pie
Metatarso aducto
Epífisis triangular de la falange distal del tercer dedo del pie
Polidactilia preaxial en pie
Punteado de la epífisis de la falange distal del tercer dedo del pie
Acroosteólisis
Epífisis en forma de corchete de la falange media del tercer dedo del pie
Epífisis ausentes de la falange media del tercer dedo del pie
Anomalía del dedo gordo del pie
Epífisis agrandada de la falange media del tercer dedo del pie
Superposición de los dedos del pie
Epífisis en forma de cono de la falange media del tercer dedo del pie
Epífisis irregular de la falange media del tercer dedo del pie
Dedos gordos de los pies largos
Fragmentación de la epífisis de la falange media del tercer dedo del pie
Deformidad en valgo del calcáneo
Pseudoepífisis de la falange media del tercer dedo
Oligodactilia
Epífisis de marfil de la falange media del tercer dedo del pie
Anomalía de los huesos del tarso
Punteado de la epífisis de la falange media del tercer dedo del pie
Epífisis pequeña de la falange media del tercer dedo del pie
Separación entre el primer y segundo dedos del pie
Epífisis ausentes de la falange proximal del tercer dedo del pie
Falange distal bífida del dedo del pie
Epífisis triangular de la falange media del tercer dedo del pie
Gota en lo pies
Epífisis en forma de cono de la falange proximal del tercer dedo del pie
Epífisis en forma de corchete de la falange proximal del tercer dedo del pie
Fragmentación de la epífisis de la falange proximal del tercer dedo del pie
Falange distal corta del dedo gordo del pie
Epífisis agrandada de la falange proximal del tercer dedo del pie
Epífisis de marfil de la falange proximal del tercer dedo del pie
Sinfalangismo distal
Epífisis irregular de la falange proximal del tercer dedo del pie
Epífisis pequeña de la falange proximal del tercer dedo del pie
Pseudoepífisis de la falange proximal del tercer dedo del pie
Ulceración acral y osteomielitis que lleva a autoamputación de los dedos de los pies
Epífisis triangular de la falange proximal del tercer dedo del pie
Clinodactilia del dedo del pie
Punteado de la epífisis de la falange proximal del tercer dedo del pie
Clinodactilia del quinto dedo del pie
Epífisis ausentes de la falange distal del cuarto dedo del pie
Epífisis fragmentadas
Epífisis en forma de cono de la falange distal del cuarto dedo del pie
Epífisis en forma de corchete de la falange distal del cuarto dedo del pie
Autoamputación
Fragmentación de la epífisis de la falange distal del cuarto dedo del pie
Pliegues plantares profundos
Epífisis agrandada de la falange distal del cuarto dedo del pie
Acroosteólisis de las falanges distales
Epífisis de marfil de la falange distal del cuarto dedo del pie
Alteración de la sangre y de los tejidos que forman la sangre
Epífisis irregular de la falange distal del cuarto dedo del pie
Alteración de las plaquetas
Epífisis pequeña de la falange distal del cuarto dedo del pie
Trombocitopenia
Pseudoepífisis de la falange distal del cuarto dedo del pie
Alteración de los neutrófilos
Epífisis triangular de la falange distal del cuarto dedo del pie
Neutropenia
Punteado de la epífisis de la falange distal del cuarto dedo del pie
Pancitopenia
Epífisis en forma de corchete de la falange media del cuarto dedo del pie
Alteración de los eritrocitos
Epífisis ausentes de la falange media del cuarto dedo del pie
Anemia hemolítica
Epífisis agrandada de la falange media del cuarto dedo del pie
Alteración de los eosinófilos
Epífisis en forma de cono de la falange media del cuarto dedo del pie
Eosinofilia
Epífisis irregular de la falange media del cuarto dedo del pie
Alteración de los leucocitos
Fragmentación de la epífisis de la falange media del cuarto dedo del pie
Leucopenia
Pseudoepífisis de la falange media del cuarto dedo del pie
Talipes
Epífisis de marfil de la falange media del cuarto dedo del pie
Talipes calcaneovalgo
Punteado de la epífisis de la falange media del cuarto dedo del pie
Segundo dedo del pie corto
Epífisis pequeña de la falange media del cuarto dedo del pie
Osteomielitis o necrosis distal  debida a neuropatía sensitiva
Epífisis ausentes de la falange proximal del cuarto dedo del pie
Epífisis triangular de la falange media del cuarto dedo del pie
Linfopenia
Epífisis en forma de cono de la falange proximal del cuarto dedo del pie
Anemia megaloblástica
Epífisis en forma de corchete de la falange proximal del cuarto dedo del pie
Anemia hemolítica autoinmune
Fragmentación de la epífisis de la falange proximal del cuarto dedo del pie
Anemia por déficit de hierro
Epífisis agrandada de la falange proximal del cuarto dedo del pie
Sangrado anormal
Epífisis de marfil de la falange proximal del cuarto dedo del pie
Epífisis irregular de la falange proximal del cuarto dedo del pie
Trombocitosis
Epífisis pequeña de la falange proximal del cuarto dedo del pie
Anemia normocrómica
Pseudoepífisis de la falange proximal del cuarto dedo del pie
Reticulocitopenia
Epífisis triangular de la falange proximal del cuarto dedo del pie
Anemia normocítica
Punteado de la epífisis de la falange proximal del cuarto dedo del pie
Aumento de la masa de glóbulos rojos
Epífisis en forma de corchete de la falange distal del quinto dedo del pie
Aumento de hematocrito
Epífisis ausentes de la falange distal del quinto dedo del pie
Aumento de la hemoglobina
Epífisis agrandada de la falange distal del quinto dedo del pie
Policitemia
Epífisis en forma de cono de la falange distal del quinto dedo del pie
Plaquetas gigantes
Epífisis irregular de la falange distal del quinto dedo del pie
Anemia
Fragmentación de la epífisis de la falange distal del quinto dedo del pie
Neutropenia autoinmune
Pseudoepífisis de la falange distal del quinto dedo del pie
Trombocitopenia congénita
Epífisis de marfil de la falange distal del quinto dedo del pie
Punteado de la epífisis de la falange distal del quinto dedo del pie
Tromboembolismo
Epífisis pequeña de la falange distal del quinto dedo del pie
Anemia hipoplásica
Epífisis ausentes de la falange media del quinto dedo del pie
Leucemia
Epífisis triangular de la falange distal del quinto dedo del pie
Epífisis en forma de cono de la falange media del quinto dedo del pie
Alteración de los granulocitos
Epífisis en forma de corchete de la falange media del quinto dedo del pie
Alteración de los basófilos
Fragmentación de la epífisis de la falange media del quinto dedo del pie
Granulocitopenia
Epífisis agrandada de la falange media del quinto dedo del pie
Epífisis de marfil de la falange media del quinto dedo del pie
Anemia aplásica
Epífisis irregular de la falange media del quinto dedo del pie
Epífisis pequeña de la falange media del quinto dedo del pie
Amiloidosis renal
Pseudoepífisis de la falange media del quinto dedo del pie
Epífisis triangular de la falange media del quinto dedo del pie
Lesión renal aguda
Punteado de la epífisis de la falange media del quinto dedo del pie
Estenosis de la arteria renal
Epífisis en forma de corchete de la falange proximal del quinto dedo del pie
Epífisis ausentes de la falange proximal del quinto dedo del pie
Linfocitos vacuoladas
Epífisis agrandada de la falange proximal del quinto dedo del pie
Reticulocitosis
Epífisis en forma de cono de la falange proximal del quinto dedo del pie
Anemia sideroblástica
Epífisis irregular de la falange proximal del quinto dedo del pie
Fragmentación de la epífisis de la falange proximal del quinto dedo del pie
Pseudoepífisis de la falange proximal del quinto dedo del pie
Acantocitosis
Epífisis de marfil de la falange proximal del quinto dedo del pie
Alteración de la coagulación
Punteado de la epífisis de la falange proximal del quinto dedo del pie
Disminución de la actividad de factor XI
Epífisis pequeña de la falange proximal del quinto dedo del pie
Anemia hemolítica esferocítica
Sinostosis comprometiendo huesos de los dedos de los pies
Anemia hipocrómica
Epífisis triangular de la falange proximal del quinto dedo del pie
Sinfalangismo proximal
Hemorragia subcutánea
Sangrado persistente tras un traumatismo
Anemia microcítica
Sinostosis comprometiendo huesos de las extremidades superiores
Mucosa respiratoria ectópica
Anemia hemolítica microangiopática
Sinostosis de las articulaciones
Leiomiosarcoma
Anomalía del metabolismo
homeostasis
Sarcoma
Tumores desmoides
Acidosis
Fibrosarcoma
Acidosis metabólica
Hipo recurrente
Hipoglucemia
Osteoma
Deshidratación
Calcificación de los músculos
Fiebre
Hemibalismo
Cetosis
Lipoma de sistema nervioso central
Acidosis tubular renal
Calcificación meníngea
Alcalosis
Anomalía de la cavidad medular de los huesos largos
Alcalosis hipocalémica
Displasia diafisaria
Alcalosis respiratoria
Displasia metafisaria
Intoxicación episódica por amoníaco
Estenosis de la cavidad medular de los huesos largos
Tolerancia anormal a la glucosa
Ectrodactilia
Cetoacidosis diabética
Placas seniles
Fiebre episódica
Polidactilia postaxial
Fiebre inexplicable
Polidactilia preaxial
Obesidad troncal
Morfología del tendón anormal
Polidactilia mesoaxial
Hipoglucemia no cetósica
Sinfalangismo distal
Polidipsia
Sinostosis comprometiendo dedos de la mano
Alcalosis metabólica hipopotasémica
Sinostosis de metacarpianos
metatarsianos
Corazón hipoplásico
Sinfalangismo proximal
Palpitaciones
Fositas o muescas  del labio
Discriminación anormal del habla
Sinostosis del carpo
tarso
Aplasia
hipoplasia de huesos metatarsianos
Fosita  labial paramedial
Anomalía del cuero cabelludo
Fosita de labio superior
Anormalidad mesangial
Voz hiponasal
Esclerosis mesangial difusa
Anomalía del patrón dorsoventral de las extremidades
Neoplasia de colon
Anormalidad tubulointersticial
Seno branquial
Nefritis tubulointersticial
Atrofia cerebelosa difusa
Hiperesplenismo
Lacrimación gustativa
Anemia macrocítica
Fositas cutáneas periauriculares
Trombocitopenia autoinmune
Fositas  cutáneas
Leucocitosis
Colitis ulcerosa
Disminución de la glicoproteína plaquetaria IIb-IIIa
Disminución de la actividad de antitrombina III
Colitis crónica
Trombosis anormal
Enfermedad de Crohn
Hematopoyesis extramedular
EMG: actividad motora continua en reposo
Colitis aguda
Médula ósea megaloblástica
EMG: Transmisión neuromuscular alterada
Esquistocitosis
EMG: descargas miotónica
Histiocitosis azul marino
EMG: conducción motora lenta
Disminución de expresión en la superficie linfocitaria de CD43
Intolerancia a la proteína
Alteración del patrón de reversión de los potenciales evocados visuales
Hipoglucemia hipocetósica
Descargas mioquímicas en la electromiografía
Deshidratación hipertónica
Alteración en potenciales evocados somatosensoriales centrales
Hiperamonemia
Alteración en potenciales evocados somatosensoriales periféricos
Hipoglucemia recurrente
Hipertrofia de la fibra muscular
Secuencia de aquinesia fetal
Amiloidosis de nervios periféricos
Atrofia de fibras musculares
Aplasia
hipoplasia de los dedos del pie
Aciduria orgánica
Aumento de tejido conectivo endomisial
Cetoacidosis
Atrofia muscular perifascicular
Síndrome de fanconi renal
Cuerpos de inclusión en la fibra muscular
Acidosis hiperclorémica
Fibras musculares &amp;quot;comidas por polilla&amp;quot;
Acidosis metabólica crónica
Inclusiones tubulares en la fibra muscular
Gota
Cuerpos de inclusión de desmina
Hipoglucemia neonatal
Cuerpos de inclusión citoplasmática en la fibra muscular
Forma facial anormal
Inclusiones tubulorreticulares en la fibra muscular
Columela corta
Fibras en anillo
Cuerpos de inclusión intranucleares en la fibra muscular
Filtro profundo
Hipoplasia de un hemisferio del cerebelo
Frente amplia
Cuerpos hialinos en la fibra muscular
Hemorragia subdural
Hemiatrofia cortical cerebral
Hendidura facial
Adherencias de los ventrículos cerebrales
Frente prominente
Hemorragia epidural
Granulomatosis cerebral
Facies de Potter
Germinoma cerebral
Maxilar estrecho
Cuerpos de Lewy
Anomalía morfológica del sistema nervioso central
Cuerpos de inclusión cerebral
Anormalidad de los órganos abdominales
Cuerpos de inclusión argirófilos o de pick
Vómito
Cuerpos de hirano
Diarrea
Cuerpos hialinos cerebrales
Disfagia
Cuerpos de Lafora
Anomalía del núcleo dentado
Náuseas y vómitos
Fibras de Rosenthal
Náusea
Necrosis aséptica juvenil
Estreñimiento
Aplasia del tracto piramidal
Reflujo gastroesofágico
Estenosis pilórica
Esclerodermia
Alergia a la leche de vaca
Atresia anal
Hipersensibilidad inmunológica
Malabsorción
Sinostosis tarsometatarsiana
Estenosis anal
Sinostosis carpometacarpiana
Dolor abdominal
Diarrea crónica
Hendidura unilateral de labio
Hendidura no central del labio
Anormalidad del esófago
Hendidura unilateral de paladar
Atresia esofágica
Hendidura de paladar bilateral
Succión o lactancia deficiente
Hendidura de labio bilateral
Anormalidad del recto
Anomalía del hueso navicular pedis
Prolapso rectal
Hendidura no central del paladar
Hernia del hiato
Desviación tibial del cuarto dedo del pie
Inflamación del intestino grueso
Desviación externa o fibular del cuarto dedo del pie
Intolerancia a las proteínas
Desviación tibial del tercer dedo del pie
Anorexia
Desviación externa o fibular del tercer dedo del pie
Várices esofágicas
Desviación tibial del segundo dedo del pie
Diarrea intratable
Desviación externa o fibular del segundo dedo del pie
Desviación tibial del quinto dedo del pie
Estenosis esofágica
Desviación externa o fibular del quinto dedo del pie
Síndrome de Zollinger-Ellison
Contractura de la articulación interfalángica proximal del tercer dedo del pie
Hipotermia
Contractura de la articulación interfalángica proximal del segundo dedo del pie
Intolerancia al calor
Contracturas de la articulación interfalángica proximal del quinto dedo del pie
Hipertermia maligna
Contractura de la articulación interfalángica proximal del cuarto dedo del pie
Atrofia cortical renal
Contractura de la articulación interfalángica distal del tercer dedo del pie
Ácidosis tubular renal proximal
Contractura de la articulación interfalángica distal del segundo dedo del pie
Macroorquidia pospuberal
Contracturas de la articulación interfalángica distal del quinto dedo del pie
Contractura de la articulación interfalángica distal del cuarto dedo del pie
Contractura de la articulación metatarsofalángica del tercer dedo del pie
Contractura de la articulación metatarsofalángica del segundo dedo del pie
Aumento de la prominencia supraorbitaria
Contractura de la articulación metatarsofalángica del quinto dedo del pie
Hoyuelo lineal curvo debajo del labio inferior
Contractura de la articulación metatarsofalángica del cuarto dedo del pie
Anomalía de la glabela
Glabela prominente
Contracturas de las articulaciones de los miembros superiores
Cara miopática
Aplasia de las falanges del cuarto dedo del pie
Atrofia cerebral
Aplasia de las falanges del tercer dedo del pie
Anomalía del cerebro
Espasticidad de extremidades inferiores
Aplasia de las falanges del quinto dedo del pie
Anomalía morfológica del tracto piramidal
Acortamiento de la falange del cuarto dedo del pie
Rigidez
Acortamiento de la falange del tercer dedo del pie
Marcha espástica
Aplasia
hipoplasia de la falange distal del tercer dedo del pie
Acortamiento de la falange del quinto dedo del pie
Marcha atáxica
Aplasia
hipoplasia de la falange distal del quinto dedo del pie
Bradicinesia
Aplasia
hipoplasia de la falange distal del cuarto dedo del pie
Disfagia neuromuscular
Aplasia
hipoplasia de la falange media del cuarto dedo del pie
Convulsiones tónico-clónicas generalizadas
Aplasia
hipoplasia de la falange media del tercer dedo del pie
Ataxia de extremidades
Aplasia
hipoplasia de la falange proximal del tercer dedo del pie
Alteración en la función motora extrapiramidal
Aplasia
hipoplasia de la falange media del quinto dedo del pie
Corea
Aplasia
hipoplasia de la falange proximal del quinto dedo del pie
Ataxia cerebelosa progresiva
Aplasia
hipoplasia de la falange proximal del cuarto dedo del pie
Aumento de lipopigmento fluorescente neuronal
Aplasia de la falange distal del cuarto dedo del pie
Disdiadococinesias
Falange distal ausente de tercer dedo del pie
Migraña
Ausencia de la falange media del tercer dedo del pie
Migraña con aura
Aplasia de la falange distal del quinto dedo del pie
Ataxia troncal
Aplasia de la falange media del quinto dedo del pie
Hipoplasia del cuerpo calloso
Aplasia de la falange media del cuarto dedo del pie
Temblor de intención
Aplasia de la falange proximal del cuarto dedo del pie
Ausencia de las falanges proximales del tercer dedo del pie
Aplasia de las falanges medias de los dedos de los pies
Migraña sin aura
Aplasia de la falange proximal del quinto dedo del pie
Encefalocele
Falange distal corta del tercer dedo del pie
Encefalocele occipital
Aplasia de las falanges proximales de los dedos de los pies
Alteración del sistema respiratorio
Falange distal corta del quinto dedo del pie
Alteración del tracto respiratorio superior
Falange distal corta del cuarto dedo del pie
Alteración del pulmón
Acortamiento de la falange media del cuarto dedo del pie
Hipoplasia pulmonar
Acortamiento de la falange media del tercer dedo del pie
Neumonía
Acortamiento de la falange proximal del tercer dedo del pie
Enfermedad pulmonar restrictiva
Acortamiento de la falange media del quinto dedo del pie
Hipertensión pulmonar
Acortamiento de la falange proximal del quinto dedo del pie
Insuficiencia respiratoria
Acortamiento de la falange proximal del cuarto dedo del pie
Disnea
Duplicación de la falange distal del cuarto dedo del pie
Duplicación de la falange distal del tercer dedo del pie
Duplicación de la falange media del tercer dedo del pie
Enfisema
Duplicación de la falange distal del quinto dedo del pie
Distrés respiratorio
Duplicación de la falange media del quinto dedo del pie
Asma
Duplicación de la falange media del cuarto dedo del pie
Neumonía por aspiración recurrente
Duplicación de la falange proximal del cuarto dedo del pie
Alteración de la lobulación pulmonar
Duplicación de la falange proximal del tercer dedo del pie
Pleuritis
Duplicación completa de la falange distal del tercer dedo del pie
Anomalía de la pleura
Duplicación de la falange proximal del quinto dedo del pie
Apnea
Duplicación completa de la falange distal del quinto dedo del pie
Hemoptisis
Duplicación completa de la falange distal del cuarto dedo del pie
Duplicación completa de la falange media del cuarto dedo del pie
Neumotórax
Duplicación completa de la falange media del tercer dedo del pie
Neumotórax espontáneo
Duplicación completa de la falange proximal del tercer dedo del pie
Alteración de los bronquios
Duplicación completa de la falange media del quinto dedo del pie
Bronquiectasias
Duplicación completa de la falange proximal del quinto dedo del pie
Insuficiencia respiratoria restrictiva
Duplicación completa de la falange proximal del cuarto dedo del pie
Duplicación parcial de la falange distal del cuarto dedo del pie
Infiltrados pulmonares
Duplicación parcial de la falange distal del tercer dedo del pie
Duplicación parcial de la falange media del tercer dedo
Duplicación parcial de la falange distal del quinto dedo del pie
Duplicación parcial de la falange media del quinto dedo del pie
Duplicación parcial de la falange media del cuarto dedo del pie
Anomalía de los ventrículos cerebrales
Duplicación parcial de la falange proximal del cuarto dedo del pie
Ventriculomegalia
Duplicación parcial de la falange proximal del tercer dedo del pie
Atrofia cortical cerebral
Falange media ancha del tercer dedo del pie
Crisis de ausencia
Duplicación parcial de la falange proximal del quinto dedo del pie
Falange media ancha del quinto dedo del pie
Convulsiones mioclónicas generalizadas
Falange media ancha del cuarto dedo del pie
Falange proximal ancha del cuarto dedo del pie
Falange proximal ancha del tercer dedo del pie
Polimicrogiria
Falange distal ancha del tercer dedo del pie
Anormalidad de motoneurona superior
Falange proximal ancha del quinto dedo del pie
Falange distal ancha del quinto dedo del pie
Falange distal ancha del cuarto dedo del pie
Falange media del cuarto dedo del pie en forma de bala
Ataxia cerebelosa intermitente
Falange media del dedo tercero del pie en forma de bala
Porencefalia
Falange proximal del tercer dedo de la mano en forma de bala
Estatus epiléptico
Falange media del quinto dedo del pie en forma de bala
Anomalía de los ganglios basales
Falange proximal del quinto dedo de la mano en forma de bala
Calcificación de los ganglios basales
Falange proximal del cuarto dedo de la mano en forma de bala
Marcha con polígono de sustentación amplio
Falange distal del cuarto dedo del pie en forma de bala
Falange distal del tercer dedo del pie en forma de bala
Hemorragia subaracnoidea
Falange media curvada del tercer dedo del pie
Arrinencefalia
Falange distal del quinto dedo del pie en forma de bala
Accidente cerebrovascular isquémico
Falange media curvada del quinto dedo del pie
Marcha no balanceada
Falange media curvada del cuarto dedo del pie
Falange proximal curvada del cuarto dedo del pie
Anomalía de la médula espinal
Falange proximal curvada del tercer dedo del pie
Secuencia de disrrafismo espinal oculto
Falange distal curvada del tercer dedo del pie
Demencia frontotemporal
Falange proximal curvada del quinto dedo del pie
Falange distal curvada del quinto dedo del pie
Falange distal curvada del cuarto dedo del pie
Hipofosfatemia
Defectos osteolíticos de la falange media del cuarto dedo del pie
Hiperuricemia
Defectos osteolíticos de la falange media del tercer dedo del pie
Hipercalciuria
Defectos osteolíticos de la falange proximal del tercer dedo del pie
Aumento de lactato sérico
Defectos osteolíticos de la falange media del quinto dedo del pie
Hiperproteinemia
Defectos osteolíticos de la falange proximal del quinto dedo del pie
Hiperpotasemia
Defectos osteolíticos de la falange proximal del cuarto dedo del pie
Hiperglicinemia
Defectos osteolíticos de la falange distal del cuarto dedo del pie
Hipertrigliceridemia
Defectos osteolíticos de la falange distal del tercer dedo del pie
Homocistinuria
Esclerosis irregular de la falange media del dedo tercero del pie
Azotemia
Defectos osteolíticos de la falange distal del quinto dedo del pie
Esclerosis irregular de la falange media del quinto dedo del pie
Excreción de heparán sulfato urinario
Esclerosis irregular de la falange media del cuarto dedo del pie
Hiperhomocistinemia
Esclerosis irregular de la falange proximal del cuarto dedo del pie
Hiperlisinemia
Esclerosis irregular de la falange proximal del tercer dedo del pie
Inserción posterior del cabello baja
Esclerosis irregular de la falange distal del tercer dedo del pie
Esclerosis irregular de la falange proximal del quinto dedo del pie
Displasia ungueal
Esclerosis irregular de la falange distal del quinto dedo del pie
Pterygium de la uña
Esclerosis irregular de la falange distal del cuarto dedo del pie
Deterioro de la sensación vibratoria en extremidades inferiores
Sinfalangismo afectando la falange media del cuarto dedo del pie
Deterioro neurológico para el habla
Sinfalangismo afectando la falange media del tercer dedo del pie
Disartria atáxica
discurso explosivo
Sinfalangismo que afecta a la falange proximal del tercer dedo del pie
Clonus
Sinfalangismo afectando la falange media del quinto dedo del pie
Hemorragia intracraneal
Sinfalangismo afectando la falange proximal del quinto dedo del pie
Gliosis
Sinfalangismo que afecta la falange proximal del cuarto dedo del pie
Inestabilidad postural
Sinfalangismo afectando la falange distal del cuarto dedo del pie
Convulsiones hipoglicémicas
Sinfalangismo afectando la falange distal del tercer dedo del pie
Temblor postural
Sinfalangismo afectando la falange distal del quinto dedo del pie
Compresión de la médula espinal
Sinfalangismo proximal
medio de cuarto dedo del pie
Sinfalangismo proximal
medio de tercer dedo del pie
Sinfalangismo de la falange proximal del segundo dedo del pie con el segundo metatarsiano
Opistótonos
Sinfalangismo proximal
medio de quinto dedo del pie
Neurodegeneración
Sinfalangismo de la falange proximal del cuarto dedo del pie con el cuarto metatarsiano
Edema cerebral
Sinfalangismo de la falange proximal del tercer dedo del pie con el tercer metatarsiano
Falange distal del quinto dedo del pie en forma triangular
Misofobia
Sinfalangismo de la falange proximal del quinto dedo del pie con el quinto metatarsiano
Sinfalangismo proximal
medio de segundo dedo del pie
Ovillos de neurofibrilla
Sinostosis de la falange proximal del dedo gordo del pie con el primer metatarsiano
Apraxia
Anomalía de las articulaciones de los miembros inferiores
Discapacidad intelectual profunda
Camptodactilia del dedo de la mano
Retraso en la mielinización del sistema nervioso central
Hipoamonemia
Somnolencia diurna excesiva
Contracturas en las articulaciones que involucran las articulaciones de los pies
Quiste del plexo coroideo
Mastocitosis
Espasticidad progresiva
Alteración de los mastocitos
Deficiencia de vitamina b3
Síntomas conductuales pseudobulbares
Anomalía del metabolismo de la vitamina b3
Retraso en el desarrollo de la motricidad gruesa
Desviación tibial de los dedos del pie
Disgenesia del vermis cerebeloso
Desviación de los dedos del pie
Mielopatía
Bronquiolitis recurrente
Convulsiones generalizadas
Desviación externa o fibular de los dedos del pie
Dilatación del cuarto ventrículo
Deficiencia de vitamina b1
Convulsiones por hipocalcemia
Deficiencia de vitamina b12
Signos pseudobulbares
Deficiencia de vitamina b5
Deficiencia de vitamina b2
Derrame pleural
Deficiencia de folato
Parálisis respiratoria
Deficiencia de vitamina b8
Embolia pulmonar
Anomalía del metabolismo de la vitamina c
Infecciones respiratorias recurrentes
Anomalía del metabolismo de las vitaminas
Fibrosis pulmonar
Anomalía del metabolismo de la vitamina d
Infiltrados reticulares o nodulares finos difusos
Deficiencia de vitamina c
Cabello grueso
Deficiencia de vitamina e
Escasez del pelo del cuero cabelludo
Deficiencia de vitamina d
Poliaquiuria
Mechón de cabello blanco
Anomalía del metabolismo de la vitamina e
Pelo rizado
Neoplasia de la uretra
Pelo fino
Neoplasia del uréter
Anuria
Vello axilar escaso
Disuria
Encanecimiento prematuro del cabello
Neoplasia del timo
Crecimiento lento del cabello
Oliguria
Cabello gris plateado
Absceso hepático
Hipertricosis facial
Timoma
Acumulación de pigmento de melanina en los tallos del cabello
Fístula del uraco
Vello axilar ausente
Duplicación de miembro
Neoplasia de la pleura
Ausencia de cejas
Neoplasia pulmonar
Pelo lanoso
Anomalía de la homeostasis del fosfato
Vello púbico escaso
Blastoma pleuropulmonar
Ceja blanca
Deformidad en &amp;quot;golpe de viento&amp;quot; en las rodillas
Pestañas blancas
Anormalidad del metabolismo del calcio-fosfato
Anomalía inflamatoria del ojo
Alopecia areata
Escleritis
Hirsutismo generalizado
Diastasis tibioperonea
Vello corporal escaso
Epiescleritis
Alopecia en placas
Fascitis
Anomalía de la fascia
Calvicie temprana
Edema periorbitario
Pili canaliculi
Anomalía de las prominencia supraorbitarias
Remolino frontal del pelo
Hernia femoral
Edema palpebral
Deterioro cognitivo
Hemorragia gastrointestinal
Localización anormal de los riñones
Hepatomegalia
Estenosis arterial
Neoplasia del corazón
Anormalidad del intestino
Alteración en la morfología del cerebro anterior o proencéfalo
Enteropatía por pérdida de proteínas
Estenosis de la arteria carótida
Anormalidad del intestino delgado
Divertículo de Meckel
Extrofia
Anormalidad del duodeno
Neoplasia de la tráquea
Atresia duodenal
Ruptura del tendón
Hematemesis
Hemihipertrofia de miembro inferior
Melenas
Tumor del sistema traqueobronquial
Anormalidad del intestino grueso
Crecimiento asimétrico
Megacolon aganglionar
Hemihipertrofia de miembro superior
Hemiatrofia de miembro inferior
Diverticulosis colónica
Hemiatrofia de miembros
Diarrea intermitente
Asimetría de extremidad inferior
Hemiatrofia de miembro superior
Divertículos del intestino delgado
Lesiones medulares
Rinitis crónica
Asimetría miembro superior
Diastematomielia
Diplomielia
Hidromielia
Triplicación de la médula espinal
Arco de cupido exagerado
Amielia
Osificación vertebral anormal
Orejas grandes y carnosas
Neoplasia del sistema endocrino
Clónicas clónicas focales
Divertículo cardiaco
Respuesta de sobresalto exagerada
Carcinoide
Distonía paroxística
Divertículo cardiaco muscular
Alteración de la migración neuronal
Divertículo cardiaco fibroso
Alteración del sistema nervioso autónomo
Neoplasia de la vesícula biliar
Desautonomía o desregulación autonómica
Neoplasia del tracto biliar
Inflamación de la vejiga urinaria
Tetraparesia
Amaurosis fugaz
Telangiectasias mucosas
Pobre coordinación motora
Lipoatrofia
Megacalicosis
Síndrome de Horner
Esófago de Barrett
Perforación de la córnea
Poliposis nasal
Aumento en el tamaño de la cisterna magna
Teleangiectasia de la piel
Heterotopias de la sustancia  gris
Endocarditis
Heterotopía
Anormalidad del prepucio
Atrofia cerebral global
Leucocituria aséptica
Fístula urogenital
Parafimosis
Pelo rubio
Alopecia progresiva
Fístula rectal
Calcificación del cartílago
Alopecia universalis
Absceso peritoneal
Poliosis
Camptocormia
Membranas esofágicas
Calvicie frontal
Alopecia del cuero cabelludo
Ausencia de narinas
Difalia
Edema pulmonar
Hipotricosis progresiva
Eclampsia
Pelo de color rojizo
Transposición penoescrotal
Pelo ausente
Toxemia del embarazo
Cabello quebradizo
Preeclampsia
Mutismo
Neoplasia de laringe
Hemiplejía
Neoplasia del labio
Dismenorrea
Neoplasia del aparato respiratorio
Aquinesia
Atetosis
Metrorragia
Múltiples quistes glomerulares
Babeo
Hiperfenilalaninemia materna
Malformación de Arnold-Chiari
Neoplasia odontogénica
Discinesia orofacial
Neoplasia de ovario
Incoordinación
Miositis
Torpeza
Seminoma testicular
Paraparesia espástica tropical
Teratoma testicular
Degeneración de los tractos corticoespinales laterales
Neoplasia de células de Sertoli
Cefalea
Neoplasia de células de Leydig
Disgerminoma
Marcha inestable
Germinoma
Mielopatía cervical
Anormalidad del cuerpo cavernoso
Convulsiones maternas
Tórax aumentado de tamaño o grande
Vértigo
Esclerosis cuerpo cavernoso
Temblor de reposo
Desplazamiento del meato uretral externo
Anencefalia
Insuficiencia hepática crónica
Hidranencefalia
Hendidura de la línea media de la cara
Divertículo esofágico
Ataque isquémico transitorio
Neoplasia de la glándula adrenal
Neoplasia de la nasofaringe
Esofagitis
Somnolencia
Secuestro pulmonar
Somnolencia paroxística
Paraganglioma carotídeo
Cefalea
Neoplasia neuroendocrina
Falta de relaciones con compañeros
Deterioro motor
Paraglioma pulmonar
Anomalía del vermis cerebeloso
Anomalías en la erección
Agenesia de vermis cerebeloso
Neoplasia de la faringe
Neoplasia de la corteza suprarrenal
Quiste laríngeo
Anormalidad del color de las uñas
Anomalía del núcleo caudado
Neoplasia de la médula suprarrenal
Atrofia del núcleo caudado
Cistocele
Compresión de la médula espinal a nivel cervical
Melanoniquia
Discapacidad intelectual moderada
Enfermedad de Graves
Hidrocefalia de presión normal
Tiroiditis
Deterioro neurológico progresivo
Neoplasia de la cavidad oral
Temblor de acción o dinámico
Neoplasia de la lengua
Temblor en la cabeza
Diabetes mellitus tipo I
Neoplasia vaginal
Neuritis óptica
Convulsiones focales sin deterioro de la conciencia o el estado de alerta
Quiste cerebeloso
Neuritis óptica retrobulbar
Leucoencefalopatía
Celosomia
Anormalidad en el EEG
Defectos de la pared toracoabdominal
Deterioro de la memoria
Anomalía de la vasculatura cerebral
Dificultad para caminar
Celulitis
Calambre del escritor
Neuralgia del trigémino
Disfasia
Discinesia
Sinotia
Caídas frecuentes
Condritis
Trastornos del sueño
Angioedema
Deterioro psicomotor
Marcha con arrastre de los pies
Alteración de la morfología del tallo cerebral
Pigmentación anómala de la mucosa oral
Hipoplasia del tallo cerebral
Duplicación intestinal
Anomalía de la motoneurona inferior
Morfología anormal ósea trabecular
Alucinaciones visuales
Hueso trabecular irregular
Hidrocele vaginal
Hernia vaginal
Pobre coordinación
Piocele vaginal
Pérdida del habla
Hematocele vaginal
EEG normal en período interictal
Varicocele vaginal
Convulsiones febriles
Linfocele vaginal
Movimientos disminuidos
Falta de elasticidad de la piel
Hipocinesia
Arrugamiento prematuro de la piel
Regresión en el desarrollo
Duplicación esofágica
Parálisis de los nervios craneales asociada a la presencia de paraganglioma
Temblor en las manos
Atresia traqueal
Fasciculaciones
Anomalía de fibras de Sharpey
Afasia
Neoplasia de la glándula salival
Poliotia
Encefalitis
Entesopatía, entesitis
Convulsiones focales con deterioro de la conciencia o el estado de alerta
Disminución del grosor de la córnea
Paraparesia
Anomalía de la curvatura de la córnea
Distrofia corneal central en mosaico
Iridodonesis
Cavum septum pellucidum
Aumento de la curvatura de la córnea
Malformación arteriovenosa espinal
Lipedema
Torsión tibial
EEG con complejos de onda poliespiga
Neurofibrosarcoma
Cicatrización anormal
Hiperreflexia de extremidades inferiores
Neurofibromas subcutáneos
Rigidez o espasticidad en rueda dentada
Anomalía de la piamadre
Alteración en la membrana aracnoidea
Degeneración de las células del asta anterior
Lengua protruida
Quiste aracnoideo
Anomalía de las células gliales
Episodios similares a accidente cerebrovascular
Discapacidad visual cortical
Anomalía de los astrocitos
Signo de Romberg positivo
Anomalía del oligodendroglía
Engrosamiento del pedúnculo cerebeloso superior
Reducción de oligodendroglía
Anomalía de la microglía
Dismetría de extremidades
Anomalía de la columna torácica
Impulsividad
Malformación arteriovenosa cerebral
Anomalía de la columna lumbar
Estenosis del acueducto
Mioquimia
Anomalía del cemento dental
Comportamiento auto dañino
Espina bífida
Coloboma de cristalino
Leucodistrofia
Ruptura uterina
Quistes subependimarios
Linfadenopatía mediastinal
Hipoplasia del cartílago de la oreja
Alteración en la morfología del cerebro medio o mesencéfalo
Tumor del estroma gastrointestinal
Signo de la muela en resonancia magnética nuclear
Liquenificación
Mal control del tono de cuello y cabeza
Hipercoagulabilidad
Histiocitosis
Signos neurológicos de tracto largo
Sarcoma de Kaposi
Cara grande
Anartria
Neoplasia de células germinales
Hendidura facial transversa
Afasia motora
Quiste broncogénico
Neoplasia de la glándula paratiroides
Fibrosis pancreática
Crisis hipertensiva
Anomalía de las epífisis vertebrales
Anomalía del paladar duro
Anomalía del paladar blando
Bulimia
Meningocele
Conducta alimenticia anormal
Meningocele occipital
Malformación del cerebelo
Neoplasia de recto
Demencia frontolímbica
Neoplasia vascular
Anomalía de la articulación humerocubital
Anomalía de la articulación humeroradial
Discalculia
Macrodactilia del dedo del pie
Macrodactilia de dedo de la mano
Hamartoma hipotalámico
Dolor de pecho
Tetraplejia
Edema muscular
Astrocitosis
Neoplasia esofágica
Atelectasia
Encefalopatía progresiva
Esquizofrenia
Lobulación hepática anormal
Anomalía de las motoneuronas
Anomalía de la salivación
Distonía de extremidades
Manía
Pancreatoblastoma
Anomalía del globo pálido
Anomalía en ojo de tigre del globo pálido
Dedos de la mano hipocráticos
Gangrena
Angiomatosis visceral
Movimientos anormales de la cabeza
Dedos del pie hipocráticos
Anomalía del sistema linfático
Disautonomía
Hemobilia
Debilidad muscular distal
Anomalía de las amígdalas
Calcificaciones densas en el núcleo dentado del cerebelo
Linfangioma
Anomalía de la placenta
Dificultad para el lenguaje
Anomalía de los vasos linfáticos
Disartria espástica
Sinovitis
Disartria
Coriocarcinoma
Hipoperistaltismo
Hiperperistaltismo
Destrucción del cartílago
Ataxia cerebelosa no progresiva
Ectasia dural
Hiperostosis
Corteza cerebral adelgazada
Exostosis
Faringitis recurrente
Retraso en el lenguaje expresivo
Anomalía del seno urogenital
Mielomeningocele
Crioglobulinemia
Reflejos primitivos presentes
Anomalía de la articulación sacroilíaca
Hamartoma conjuntival
Cuadriplejia espástica progresiva
Aplasia de mama
Encefalopatía hepática
Insomnio
Fístula arteriovenosa periférica
Neoplasia de próstata
Signos bulbares
Hipersomnia
Torus palatinus - rodete palatino
Fusión de los labios
Miotonía
Hipercinesia
Hernia
Leucemia aguda
Acantólisis
Aumento de lactato en líquido cefaloraquídeo
Columna anormalmente recta
Espasticidad de músculos faciales
Anomalía del tracto corticoespinal
Uña displásica dedo del pie
Disfunción del tracto corticoespinal
Orquitis
Trastorno del sueño rem
Neoplasia del oído medio
Deterioro de la sensación vibratoria
Uña displasica
Aplasia de páncreas
Ataxia espástica
Aplasia
hipoplasia del páncreas
Anormalidad de la región periungueal
Malposición del estómago
Anomalía de la sustancia blanca cerebral
Menopausia precoz
Espasticidad de los músculos faríngeos
Fibroma ungueal
Dedos de la mano largos
Degeneración del tracto espinocerebeloso
Septicemia
Calcificación de pequeños vasos cerebrales
Hipersensibilidad del cuero cabelludo
Incapacidad progresiva para caminar
Divertículo gástrico
Atrofia difusa cerebral
Aplasia
hipoplasia del colon
Holoprosencefalia semilobar
Hélix en punta
Displasia del tallo cerebral
Torsión testicular
Hipertonía de extremidades
Halitosis
Tetraplejía espástica
Enfermedad de Alzheimer
Nevus azul
Compresión del tallo cerebral
Hipertensión renovascular
Hiperpigmentación de labios
Calcificación cerebral
Fístula intestinal
Marcha de pato
Tórax largo
Aumento de la presión intracraneal
Uretrocele
Glomerulopatía
Anomalía de la sustancia blanca periventricular
Hernia genital
Alucinaciones hipnagógicas
Rectocele
Queilitis
Hipsarritmia
Arreflexia de miembros inferiores
Linfocitosis
Neoplasia de la uña
Cataplejía
Galactorrea
Aumento en el número de células T
Déficit para repetir sonidos
Anomalía del metabolismo de la vitamina k
Caidas
Oreja de forma redonda
Degeneración granulovacuolar
Neoplasia del intestino delgado
Pérdida de neuronas en el sistema nervioso central
Moscas volantes
Distonía axial
Tumor benigno del sistema nervioso central
Neoplasias del intestino grueso
Atrofodermia vermiculata
Defecto postural
Tumor maligno del sistema nervioso central
Agenesia hepática
Abscesos cutáneos recurrentes
Alteración en giro de la corteza cerebral
Microgastria
Aplasia
hipoplasia de la ceja
Anomalía de la corteza cerebral
Glioblastoma
Displasia cortical
Displasia septo-óptica
Incapacidad para caminar
Shock anafiláctico
Fístula pancreática
Atrofia olivopontocerebelosa
Pústulas palmoplantares
Retrocolis
Neoplasia del escroto
Desmielinización en parches de la sustancia blanca subcortical
Neoplasia de los genitales externos masculinos
Discurso incoherente
Comportamiento emotivo
afectivo anormal
Neoplasia del pene
Parkinsonismo con respuesta favorable a la medicación dopaminérgica
Areola hipoplásica
Déficit en la memoria fonológica de corto plazo
Comportamiento ansioso
temeroso anormal
Vello facial ausente
Hipoplasia del triceps
Aplasia de la musculatura
Tricodisplasia
Silla turca plana
Aumento del arqueamiento de las cejas
Vértebras pobremente osificadas
Aneurisma de arteria mesentérica superior
Vello púbico ausente
Aneurisma de la arteria celíaca
Esclerosis cuerpo vertebral
Pezones hipoplásicos
Aneurisma de la arteria mesentérica inferior
Pezones supernumerarios
Aplasia del cuello femoral
Aplasia de la cabeza femoral
Isquion ancho
Pezones ausentes
Cuello femoral corto
Baja inserción de los pezones
Estenosis duodenal
Pericarditis constrictiva
Huesos ilíacos cortos
Malformación del corazón y los grandes vasos
Telangiectasia palmar
Malrotación intestinal
Anomalía de la palma de la mano
Telangiectasia plantar
Anormalidad de la piel de la planta del pie
Esteatorrea
Hemimacroglososia
Acalasia
Cabello grueso
Vómitos episódicos
Divertículo renal
Hematoquecia
Pliegue infra-orbitario
Dolor abdominal episódico
Ovarios agrandados
Fístula traqueoesofágica
Útero agrandado
Intususcepción
Nefroma mesoblástico congénito
Anormalidad del estómago
Restos nefrogénicos
Gastroparesia
Corangioma
Alteración de la motilidad gastrointestinal
Hamartoma fibroso
Vólvulo
Anomalía venosa lateral
Escoliosis compensatoria
Gastritis atrófica crónica
Anomalía del tamaño del globo ocular
Colitis
Anomalía de la ubicación del globo ocular
Sangrado intestinal
Anormalidad del colédoco
Anormalidad del peritoneo
Bucle interdigital
Peritonitis
Xifoides bífida
Vómito en proyectil
Quiste de colédoco
Úlcera duodenal
Xifoides prominente
Atresia gastrointestinal
Anomalía del proceso xifoides
Íleo paralítico
Polifagia
Xifoides ancho
Úlcera gástrica
Linfangiectasia intestinal
Poliposis rectal
Hipoplasia pancreática
Esclerosis de la falange del dedo de la mano
Íleo
Nevus del tejido conectivo
Esclerosis de la falange distal del tercer dedo de la mano
Anomalía de la vasculatura
Esclerosis de la falange distal del segundo dedo de la mano
Esclerosis de la falange distal del quinto dedo de la mano
Inclinación de la cabeza
Esclerosis de la falange distal del cuarto dedo de la mano
Hiporreflexia de miembros inferiores
Esclerosis de la falange media del tercer dedo de la mano
Paresia de los músculos extensores del dedo gordo del pie
Esclerosis de la falange media del segundo dedo de la mano
Esclerosis de la falange media del quinto dedo de la mano
Esclerosis de la falange media del cuarto dedo de la mano
Telangiectasia gastrointestinal
Esclerosis de la falange proximal del tercer dedo de la mano
Necrosis hepática
Esclerosis de la falange proximal del segundo dedo de la mano
Esclerosis de la falange proximal del quinto dedo de la mano
Incontinencia intestinal
Esclerosis de la falange proximal del cuarto dedo de la mano
Enfermedad celíaca
Esclerosis de la falange proximal del pulgar
Esclerosis de la falange distal del pulgar
Esclerosis de la falange distal del dedo de la mano
Enfermedad hepática colestásica
Esclerosis del primer metacarpiano
Fibrosis hepática congénita
Esclerosis de la falange proximal del dedo de la mano
Cirrosis biliar
Esclerosis de la falange media del dedo de la mano
Necrosis periportal hepática
Esclerosis de la falange del tercer dedo de la mano
Hipotensión
Esclerosis de la falange del segundo dedo de la mano
Dilatación de la raíz aórtica
Esclerosis de la falange del quinto dedo de la mano
Aneurisma
Esclerosis de la falange del cuarto dedo de la mano
Esclerosis clavicular
Venas varices
Esclerosis de la falange del pulgar
Esclerosis del hueso del pie
Ateroesclerosis
Esclerosis de la falange del dedo del pie
Aneurisma disecante de la aorta
Esclerosis de la falange del tercer dedo del pie
Superposición de la aorta
Esclerosis de la falange del segundo dedo del pie
Anormalidad venosa
Esclerosis de la falange del quinto dedo del pie
Trombosis venosa profunda
Esclerosis de la falange del cuarto dedo del pie
Varicosidades de las venas mesentérica y celíaca
Esclerosis de la falange proximal del segundo dedo del pie
Arco aórtico derecho con imagen especular de ramificación
Esclerosis de la falange del dedo gordo del pie
Esclerosis de la falange proximal del cuarto dedo del pie
Malformación arteriovenosa gastrointestinal
Esclerosis de la falange proximal del tercer dedo del pie
Malabsorción de grasas
Esclerosis de la falange media del segundo dedo del pie
Aneurisma aórtico ascendente
Esclerosis de la falange proximal del quinto dedo del pie
Presión arterial baja a normal
Esclerosis de la falange media del cuarto dedo del pie
Vasculitis
Esclerosis de la falange media del dedo tercero del pie
Arterioesclerosis
Esclerosis de la falange distal del segundo dedo del pie
Ateromatosis
Esclerosis de la falange media del quinto dedo del pie
Aneurisma de una arteria abdominal
Esclerosis de la falange distal del cuarto dedo del pie
Isquemia cerebral
Esclerosis de la falange distal del tercer dedo del pie
Tromboflebitis superficial
Esclerosis de la falange proximal del dedo gordo del pie
Síndrome de Budd-Chiari
Esclerosis de la falange distal del quinto dedo del pie
Hipertensión asociada a feocromocitoma
Esclerosis del primer metatarsiano
Trombosis periférica
Esclerosis de la falange distal del dedo gordo del pie
Fístulas arteriovenosas de los vasos mesentéricos y celíacos
Esclerosis de la falange media del dedo del pie
Dificultad respiratoria neonatal
Esclerosis de la falange proximal del dedo del pie
Anomalía de la morfología ósea de la cintura pélvica
Huesos wormianos
Esclerosis de la falange distal del dedo del pie
Aumento en el tamaño de la fosa interpeduncular
Disección aórtica
Deficiencia de cadena larga 3 hidroxiacil coa deshidrogenasa
Anomalía de la morfología del calvario
Aumento en el tamaño de la fisura interhemisférica
Aumento en el tamaño de la cisterna de Silvio
Escoliosis
Granuloma de células gigantes de la mandíbula
Displasia espondiloepimetafisaria
Opérculo abierto
Displasia esquelética
Anormalidad de la médula renal
Dolor óseo
Displasia epifisaria múltiple
Bandas metafisarias densas
Displasia espondiloepifisaria
Agujero obturador estrecho
Displasia epifisaria
Aumento en el tamaño del hipocampo
Displasia espondilometafisaria
Ventrículos cerebrales asimétricos
Hiperestesia
Aumento de la susceptibilidad a las fracturas
Timidez
Fracturas indoloras debido a una lesión
Retraso en la osificación epifisaria
Neoplasia
Linfoma
Feocromocitoma
Nefroblastoma
Paraganglioma
Osteosarcoma
Carcinoma basocelular
Carcinoma gastrointestinal
Coxa valga
Cráneo trébol
Foramen magno estrecho
Asimetría del cráneo
Anomalía de la silla turca
Silla turca en forma de J
Silla turca deforme
Cráneo ancho
Anomalía de la bóveda craneal
Bóveda craneal engrosada
Anomalía materna prenatal
Anomalía de los senos frontales
Obliteración de los senos frontales
Ausencia de senos paranasales
Silla turca grande
Platibasia
Huesos faciales hipoplásicos
Anomalía de la base del cráneo
Esclerosis de la base del cráneo
Defectos óseos parietales ovales, simétricos
Anomalía del hueso parietal
Forámenes parietales
Anomalía del agujero occipital
Agujero occipital amplio
Anomalía de la osificación del cráneo
Paladar alto y estrecho
Telangiectasia del paladar
Rafe medio del paladar prominente
Fosita de la comisura labial
Surco medio de la lengua exagerado
Comisuras de la boca de oblicuidad descendente
Alteración del sistema inmune
Linfadenopatía
Hiperactividad suprarrenal
Infecciones bacterianas recurrentes
Infecciones recurrentes
Déficit de IgA
Inmunodeficiencia
Formación recurrente de abscesos
Ausencia del &amp;quot;estallido respiratorio&amp;quot; oxidativo bactericida de los fagocitos
Infecciones recurrentes por Aspergillus
Lupus eritematoso sistémico
Infecciones recurrentes por Staphylococcus aureus
Candidiasis mucocutánea crónica
Hiperplasia folicular
Linfadenopatía crónica no infecciosa
Apoptosis defectuosa de linfocitos
Hipoplasia de ganglios linfáticos
Anomalía de los ganglios linfáticos
Base del cráneo gruesa
Senos frontales hipoplásicos
Infecciones recurrentes por E. coli
Infecciones recurrentes por Serratia marcescens
Infecciones recurrentes por Klebsiella
Infecciones recurrentes por enterovirus
Hendidura de labio y paladar bilateral
Leucoplasia oral
Insuficiencia respiratoria por debilidad muscular
Raquitismo
Osteomalacia
Maduración esquelética retrasada
Cifoescoliosis
Hueso trabecular escaso
Adelgazamiento cortical
Osteomielitis
Osteomielitis secundaria a inmunodeficiencia
Fracturas patológicas
Fracturas recurrentes
Osteoartritis
Laxitud articular generalizada
Exostosis múltiple
Morfología del cartílago anormal
Calcificación condral punteada
Columna relativamente corta
Estenosis traqueal
Alteración de la tráquea
Traqueomalacia
Broncomalacia
Obstrucción de vía aérea superior
Infecciones recurrentes del tracto respiratorio inferior
Traqueobronquiomalacia
Calcificación traqueal
Infecciones recurrentes de las vías respiratorias superiores
Taquipnea
Disregulación de la respiratoria neonatal
Hipoventilación
Reducción de la capacidad vital
Alteración del patrón respiratorio
Alteración respiratoria funcional
Osteólisis
Contractura congénita
Artrogriposis múltiple congénita
Edad ósea acelerada después de la pubertad
Cifosis
Metáfisis en forma de mancuernas
Coxa vara
Anomalía de la morfología ósea de las extremidades
Anomalía de la extremidad inferior
Anomalía de las rodillas
Genu recurvatum
Anomalía de la extremidad superior
Anomalía del radio
Artropatía neuropática
Hiperplasia de los trocánter femorales
Anomalía del fémur
Apéndice caudal
Pelvis en forma de alabarda
Dislocación de cadera
Contracturas articulares múltiples
Artralgia
Coxis largo
Calcificación punteada
Angiomatosis quística del hueso
Metáfisis femoral en forma de campana
Aspiración
Extrofia vesical
Bronquitis recurrente
Disfunción del esfínter vesical
Linfadenitis
Infecciones recurrentes por hongos
Infecciones recurrentes por Burkholderia cepacia
Alteración de las células T
Aumento del número de linfocitos T periféricos CD3 +
Alteración de las células B
Alteración de la generación de memoria de células B
Deficiencia específica de anticuerpos anti-polisacárido
Ausencia de centros germinales en los nódulos linfáticos
Déficit de IgM
Aumento del número de células T CD4-
CD8- que expresan receptores de células T alfa
beta
Aumento de la proporción de células T HLA DR + y CD57 +
Genu valgo
Meningioma
Rabdomiosarcoma
Carcinoma de células escamosas
Melanoma
Carcinoma de vejiga
Mielodisplasia
Paraganglioma de la cabeza y cuello
Carcinoma medular de tiroides
Hipoplasia de las alas ilíacas
Anomalía del hueso ilíaco
Alas ilíacas estrechas
Alas ilíacas en forma de campana
Apnea obstructiva del sueño
Apnea central
Episodios de apnea precipitados por enfermedad, fatiga, estrés
Disnea de esfuerzo
Taquipnea episódica
Hipoventilación nocturna
Fallo respiratorio
Anisospondyly
Dificultad respiratoria
Apnea episódica súbita
Hiperventilación
Hepatoblastoma
Meduloblastoma
Paraganglioma vagal
Ependimoma
Carcinoma de tiroides
Leiomiosarcoma uterino
Adenoma hipofisario
Tumor de páncreas
Carcinoma papilar de tiroides
Neoplasia hepática
Adenoma de paratiroides
Neoplasia embrionaria
Hipopotasemia
Hipocalcemia
Hiponatremia
Hiperbilirrubinemia
Hiperfosfatemia
Hematuria microscópica
Hiperbilirrubinemia conjugada
Aminoaciduria generalizada
Transaminasas hepáticas elevadas
Acidemia metilmalónica
Mioglobinuria
Hipercloriduria
Anormalidad de la segregación cromosómica
Hipomagnesemia
Hipermagnesemia
Cetonuria
Déficit del nivel de ACTH circulante
Anomalía del líquido cefalorraquídeo
Aumento de proteínas en líquido cefaloraquídeo
Factor reumatoide positivo
Déficit del nivel de aldosterona circulante
Exceso de TSH
Alteración de la fisiología tiroidea
Histidinuria
Disminución de la actividad del complejo de la piruvato deshidrogenasa
Insensibilidad de las células de Leydig a la gonadotropina
Defecto del receptor de la hormona tiroidea
Deficiencia de aldehído oxidasa
Hernia ventral
Discapacidad sensitiva distal
Hemivértebra
Hiperlordosis lumbar
Cifosis torácica
Escoliosis torácica
Escoliosis toracolumbar
Estrechamiento del espacio intervertebral
Vértebras supernumerarias
Cifosis cervical
Fusión vertebral
Vértebras cervicales fusionadas
Ausencia parcial del vermis cerebeloso
Fracturas vertebrales por compresión
Granulomatosis
Desregulación inmune
Alteración de la recombinación de cambio de clase de Ig
Autoinmunidad
Disgammaglobulinemia
Prueba de hipersensibilidad cutánea retardada anormal
Anergia cutánea
Cúbito valgo
Genu varo
Ausencia de las microvellosidades de la superficie de los linfocitos de sangre periférica
Disminución de hipersensibilidad retardada
Anomalía del antebrazo
Sinostosis radiocubital
Aplasia
hipoplasia que afecta el sistema nervioso central
Arqueamiento o incurvación de las piernas
Incurvamiento del fémur
Anomalía de la pantorrilla
Arqueamiento tibial
Micromelia
Hipoplasia del radio
Encurvamiento radial
Contractura en flexión de codo
Aplasia del peroné
Anomalía del peroné
Anomalía de la tibia
Limitación en el movimiento del codo
Anomalía del cúbito
Luxación patelar
Tumor del glomus yugular
Carcinoma de mama
Cáncer de colon
Ganglioneuroma
Neuroblastoma
Neurotoxicidad intensificada de la vincristina
Tiempo de sangrado prolongado
Anomalía de la musculatura
Epífisis protuyentes
Metáfisis en forma de campana
Ampliación metafisaria
Anomalía de la muñeca
Agrandamiento de las muñecas
Metáfisis en forma de copa
Hipoplasia del cúbito
Arqueamiento de las extremidades debido a múltiples fracturas
Irregularidad metafisaria
Acortamiento de huesos largos
Mesomelia
Anomalía de los tobillos
Agrandamiento de los tobillos
Encurvamiento cubital
Esclerosis diafisaria
Articulaciones agrandadas
Hipoplasia del peroné
Artropatía
Sinostosis humeroradial
Dislocación del codo
Anomalía del hombro
Contractura en flexión de hombro
Anomalía de la rótula
Subluxación de la cabeza radial
Desviación cubital de la muñeca
Metáfisis agrandados
Deformidades de las epífisis de los huesos tubulares
Tetraamelia
Anomalía de las articulaciones radiocubital
Anomalía del húmero
Hipoplasia patelar
Limitación en la extensión de la rodilla
Deformidad de Madelung
Deformidades del antebrazo madelung-like
Anquilosis del codo
Epífisis aplanadas
Hipercalcemia
Hipoalbuminemia
Hiperglucemia
Hipoproteinemia
Glucosuria
Hiperlipidemia
Reparación del ADN defectuoso después de daño por radiación ultravioleta
Hidroxiprolinuria
Aumento del potasio urinario
Luxación de la cabeza radial
Fracturas de los huesos largos
Peroné largo
Acromesomelia
Artrosis prematura
Contracturas de los músculos isquiotibiales
Hipoplasia de la epífisis capital femoral
Cambios tróficos de las extremidades
Limitación en la extensión de la cadera
Artritis séptica
Fémur corto
Crecimiento excesivo del peroné
Hueso largo y delgado
Ángulo cubital aumentado
Morfología anormal de la cortical ósea
Protuberancias en los extremos de los huesos largos
Erosiones subperiósticas debido a hiperparatiroidismo secundario
Anormalidad del metabolismo del colesterol
Hiperglicinuria
Hiperfosfaturia
Anormalidad de la homeostasis de la orina
Anomalía de la homeostasis de iones
Anomalía de los niveles de aminoácidos en suero
Hipocloremia
ECG anormal
Ecocardiograma anormal
Alteración del nivel plasmático de hormonas circulantes
Aumento del nivel circulante de cortisol
Anomalía del metabolismo de los lípidos
Contractura articular en los miembros
Hipercolesterolemia
Disminución de la actividad del factor VIII
Proteinuria de bajo peso molecular
Hipocalciuria
Acidosis láctica
Mielinización periférica anormal
Cistinuria
Alteración en las vías espinocerebelosas
Alteración en la conducción nerviosa periférica
Prolinuria
Aumento de nitrógeno ureico en sangre
Panhipogammaglobulinemia
Inversión de la onda t en las derivaciones precordiales derechas
Hiperbetalipoproteinemia
Producción excesiva de purina
Elevación sérica de serotonina
Disminución de adenosilcobalamina
Hipocolesterolemia
Fosfatasa ácida sérica elevada
Hiperuricosuria
Aciduria glutárica
Elevación sérica de 1,25-dihidroxivitamina D3
Cistationinuria
Aumento del nivel circulante de ACTH
Fosfatasa alcalina elevada
Hipostenuria
Hiperoxaluria
Enfoque isoeléctrico anormal de la transferrina sérica
Aciduria 4-hidroxifenilpirúvica
Hipoglucemia en ayunas
Ácido delta-aminolevulínico urinario elevado
Deficiencia de la hormona liberadora de gonadotropina de origen hipotalámico
Nivel circulante de hormona paratiroidea  elevado
Aumento de la taurina urinaria
Carnosinuria
Dibasicaminoaciduria
Anomalía del acetábulo
Anomalía de los huesos del pubis
Huesos púbicos hipoplásicos
Anomalía del isquion
Hipoplasia de isquion
Huesos ilíacos cuadrados
Protrusión acetabular
Techo acetabular plano
Fosa acetabular poco profunda
Ensanchamiento de la sínfisis púbica
Disminución de la abducción de la cadera
Escotadura sacroilíaca pequeña
Pezones invertidos
Hipoplasia mamaria
Nariz larga
Hendidura de la aleta nasal
Rinitis alérgica
Puente nasal corto
Nariz corta
Miopatía
Disminución de la masa muscular
Fibras musculares rojas rasgadas
Rabdomiolisis
Amiotrofia
Test de reducción de nitroazul de tetrazolio   negativo
Acumulación intracelular de material de almacenamiento lipopigmento autofluorescente
Acumulación intracelular curvilínea del material de almacenamiento de lipopigmento autofluorescente
Disminución de la actividad de la nadph oxidasa
Calcificación arterial
Acumulación intracelular de material de almacenamiento lipopigmento autofluorescente
Actividad de la piruvato carboxilasa disminuida
Disminución de la actividad mutasa metilmalonil-coa
Aumento del nivel de IgE
Escisión deficiente de los dímeros de pirimidina inducidos por UV en el ADN
Fase G2 del ciclo celular prolongado
Aciduria dicarboxílica
Depósito de amiloide generalizado
Hiperglutaminemia
Oroticaciduria
Aciduria etilmalónico
Anormalidad de la estabilidad cromosómica
Rotura cromosómica inducida por agentes de reticulación
Disminución de la metilcobalamina
Aumento de la sensibilidad celular a la luz ultravioleta
Disminución de la actividad del factor V
Acumulación intracelular rectilínea de material de almacenamiento de lipopigmento autofluorescente
Hipernatremia
Hipertirosinemia
Enzima málico mitocondrial reducida
Hipoalfalipoproteinemia
Carnitina plasmática disminuida
Hipermetioninemia
Creatina fosfoquinasa elevada
Aumento del nivel de IgG
Hiperpepsinogenemia
Fosfoetanolaminuria
Aumento fosforribosilpirofosfato  sintetasa
Hipoplasia genital externa
Hipospadias peneanas
Rafe escrotal prominente
Sobrecrecimiento de los genitales externos
Tejido gonadal inadecuado para los genitales externos o sexo cromosómico
Úlceras genitales
Aplasia de la vagina
Infertilidad masculina
Genitales desplazado anteriormente
Anormalidad de la reparación del ADN
Alteración de la cascada de la coagulación
Deficiencia de glioxalase
Creatinina sérica elevada
Hidroxiprolinemia
Aumento del nivel de IgA
Anticuerpos de músculo liso positivos
Deficiencia de n-acetilglucosamina-1-fosfotransferasa
Hiperbilirrubinemia neonatal
Actividad reducida de orotidina 5-prima fosfatasa descarboxilasa
Argininuria
Leucodistrofia sudanofílica
Distensión abdominal
Visceromegalia
Anomalía del hueso de la cadera
Contractura de cadera
Hipoplasia acetabular
Pelvis estrecha
Exostosis pélvicas
Alas ilíacas contraídas
Pelvis cuadrada
Coxa magna
Aumento de ferritina sérica
Fosfatasa alcalina baja
Cistationinemia
Anomalía del metabolismo mitocondrial
Defecto mitocondrial de propionil-coa carboxilasa
Déficit de leptina sérica
Alteración en la secreción de FSH y LH
Hipertreoninuria
Hiperlisinuria
Espina bífida oculta
Cuerpos vertebrales ovoides
Placas terminales vertebrales irregulares
Espondilolistesis
Espondilolisis
Fusión de vértebras
Rigidez espinal
Hiperlordosis
Subluxación cervical
Vértebra toracolumbar ovoide
Anomalía de la apófisis odontoides
Hipoplasia de la apófisis odontoides
Forma anormal de los cuerpos vertebrales
Vértebras en mariposa
Hipermovilidad de la columna cervical
Anomalía de la columna cervical
Subluxación C1-C2
Vértebras achatadas bicóncavas
Debilidad muscular progresiva
Debilidad muscular generalizada
Debilidad muscular de cinturas
Mialgia
Debilidad muscular axial
Examen de laboratorio del pelo anormal
Tallo del cabello aplanado a intervalos irregulares y retorcido en 180 grados alrededor de su eje
Estructura ósea anormal
Ausencia de la capa esponjosa metafisaria
Aumento de suero beta-hexosaminidasa
Nivel circulante de catecolaminas elevado
Disminución de gonadotropinas
Osificación endocondral anormal
Disminución del consumo de protrombina
Necrosis focal de las células del músculo del ventrículo derecho
Anemia megaloblástica-pirimidina sensible
Separación dermo-epidérmica al nivel de la lámina lúcida
Deficiencia de glutatión sintetasa
Aciduria 3-metilglutárica
Norepinefrina urinaria elevada
Alteración de la transformación de linfocitos con fitohemaglutinina
Hiperalaninemia
Bajas tasas de esterificación del colesterol
Déficit del nivel de renina circulante
Endopoliploidia en estudios cromosómicos de médula ósea
Deficiencia de propionil-coa carboxilasa
Hipertreoninemia
Aminoaciduria
Hormona tímica disminuida
Cistina intracelular elevada
Disminución del sulfato urinario
Triptofanuria
Aumento de circulación de colesterol de lipoproteínas de muy baja densidad
Situs inversus abdominal
Artralgia de la cadera
Anomalía de la región del cuello y la cabeza femoral
Anomalía del cuello femoral
Anomalía de la cabeza femoral
Epífisis de la cabeza femoral achatada
Agrandamiento de la epífisis femoral proximal
Estrechamiento de las hendiduras sacrociáticas mayores
Marcha neuropática
marcha del gran paso
Degeneración
regeneración axonal
Disminución en el número de fibras nerviosas mielinizadas periféricas
Cambios hipertróficos del nervio
Formación del bulbo de cebolla
Atrofia axonal periférica
Disminución en el número de fibras nerviosas mielinizadas periféricas grandes
Tendencia a fatigarse fácilmente
Neuropatía axonal sensorial
Signo de Gowers
Debilidad del primer músculo interóseo dorsal
Epífisis extendidas
Atrofia muscular de la región tenar
Calambres musculares
Edad ósea acelerada disarmónica
Edad ósea disarmónica
Siringomielia
Tamaño anómalo de las fisuras palpebrales
Hipotonía global debido a un defecto de la unión neuromuscular
Inclinación de la hendidura palpebral
Anomalía de la unión neuromuscular
Forma anómala de la fisura palpebral
Formación de la lámina basal en forma de &amp;quot;bulbos de cebolla&amp;quot;
Tamaño anormal del cuerpo calloso
Parestesia
Disminución en los potenciales de acción de la placa terminal pequeña
EMG: respuesta decreciente del potencial de acción muscular compuesto  de la estimulación nerviosa repetitiva
Poliposis intestinal
Depigmentación simétrica del dedo gordo del pie
Edema axonal difuso
Compresión de nervio periférico
Tumor de tejido graso
Cuerpo calloso hipoplásico
Discapacidad sensitiva distal que incluye todas las modalidades
Protanomalía
Agenesia de la sustancia blanca cerebral
Metáfisis femorales proximales irregulares
Acroqueratosis
Priapismo
Anomalía atlantoaxial
Papiloma del plexo coroideo
Dislocación atlantoaxial
Hombros con inclinación hacia abajo o caidos
Erosión corneal
Estenosis del canal espinal
Hendiduras coronales de las vértebras
Dolor ocular
Dolor de espalda
Dolor mandibular
Dolor lumbar
Separación de cromátidas prematura
Platispondilia
Lesiones cutáneas de vasculitis punctata
Defecto de segmentación vertebral
Vasculitis en piel
Cifoescoliosis toracolumbar
Mixedema pretibial
Placa cutánea
Pápula
Atrofia del primer músculo interóseo dorsal
Debilidad muscular de la eminencia tenar
Anillo de Kayser-Fleischer
Pústula
Hipomielinizacióndel sistema nervioso central
Vesícula cutánea
Disminución en la velocidad de conducción motora nerviosa
Nódulo cutáneo
Verrugas
Úlcera cutánea
Neuropatía atáxica sensorial
Erosión de la piel
Calambres en las manos causadas por el frío
Quiste epidermoide
Potenciales miniatura de placa terminal prolongados
Condritis del pabellón auricular
Maullido de gato
Ausencia del reflejo aquiliano
Poroqueratosis
Sacro horizontal
Epífisis de metacarpianos en forma de corchetes
Hipertonía miembro superior
Disminución en el tamaño de las terminales nerviosas
Cianosis eipisódica
EMG: signos de denervación crónica
Mano pequeña
EMG: cambios neuropáticos
Monodactilia
Hemihipotrofia de miembro inferior
Pérdida axonal
Disminución de la velocidad de conducción sensitiva nerviosa
Angiosarcoma metastásico
Calambres musculares causados por el frío
Angiosarcoma
Regeneración axonal
Pupila de Marcus Gunn
Aumento de velocidad de condensación prematura de cromosomas
Cicatrices maculares
Aumento de hierro sérico
Pólipos colorrectales
Positividad de anticuerpos antineutrófilos
Anticuerpo plaquetario positivo
Ácidos grasos de cadena larga elevados
Baja respuesta de AMP cíclico urinario a la administración de PTH
Aborto espontáneo recurrente
Anomalía del EMG
Degeneración corneal en cinta
EMG: anomalías miopáticos
Degeneración coroidorretiniana
Elevación policlonal de IgM
Asimetría de la pigmentación del iris
Deficiencia total inmunoglobulina A
Degeneración vitreorretiniana periférica
Aumento de sialopeptidos urinarios o-ligados
Atrofia periférica de la retina
8-dehidrocolesterol elevado
Aumento de lipopigmento fluorescente extraneuronal
Pérdida de la visión no progresiva
Homeostasis del colesterol anormal
8 -colestenol elevado
Aumento paradójico de la secreción de cortisol en la prueba de supresión con dexametasona
Insuficiencia respiratoria por disquinesia ciliar
Inestabilidad atlantoaxial
Cuadriplejia episódica
Anomalía de las vértebras
Dismielinación periférica
Parálisis
Tetania provocada por hipocalcemia
Acortamiento importante del miembro
Debilidad por fatiga muscular
Deterioro sensorial
Neuropatía axonal periférica
Temblor de extremidades
Hepatitis de células gigantes
Desmielinización segmentaria periférica
remielinización
EMG: alteración axonal
Debilidad muscular del miembro superior
Mordida abierta anterior
Mordida abierta frontal
Signo de Babinski
Episodios agudos de síntomas neuropáticos
Pigmentación ausente de la piel
Deshidrogenación defectuosa de isovaleril coa y butiril coa
Ampollas de la mucosa oral
Pirofosfato urinario elevado
Boca abierta en forma triangular
Elevación de gonadotropinas urinarias
Anticuerpos antinucleares positivos
Pestañas escasas
ausente
Disminución
ausencia de los reflejos del tobillo
Acumulación de gangliósido-gm2
Aumento del nivel de IgM
Brazos de dineína  acortados
Ausencia
Acortamiento de brazos de dineína
Talla baja desproporcionada
Quinta uña del pie ausente
Uña del quinto dedo de la mano ausente
Cabeza del estribo ausente
Talla baja  leve
Ausencia
Acortamiento de brazos externos de dineína
Brazos de dineína  acortados
Alcalosis metabólica
Afalangia de manos y pies
Talla baja proporcional
Hepatitis aguda
Mala absorción de vitamina b12
Talla baja severa
Infecciones recurrentes del tracto respiratorio superior e inferior
Atresia ileal distal
Hepatitis crónica
Reducción en la relación aclaramiento de calcio renal sobre aclaramiento de creatinina
Hepatitis atípica o prolongada
Deficiencia o ausencia de citocromo b
Hepatitis crónica activa
Cardiomiopatía auricular
Talla al nacer superior al percentil 97
Cardiomiopatía amiloide
Defectos de la cadena respiratoria mitocondrial
Hepatitis crónica por infección de cryptospridium
Talla baja con tronco corto desproporcionado
Estenosis mitral calcificada
Hipertrofia biventricular
Disminución de la actividad de la sintasa de metionina
Encefalopatía epiléptica
Cristaluria de ácido orótico
Meningocele lumbosacro
Hiperprostaglandinuria
Calcitonina elevada
Aumento de la reabsorción tubular renal de calcio parathormona-independiente
Atresia
estenosis bilateral de coanas
Acidemia glutárica
Disfagia orofaríngea
Ornitinuria
Hiperplasia eritroide megaloblástica
Retraso en la oxidación de acetaldehído
Reducción de la actividad de la xantina deshidrogenasa
Dientes pequeños y cónicos
Aciduria 3-metilglutaconica
Disminución de la actividad fumarato hidratasa
Pérdida de neuronas en los ganglios basales
Hipouricemia
Necrosis quística de la media de la aorta
Actividad en suero aumentada de iduronato sulfatasa
Púrpura anafilactoide
Alteración de la agregación plaquetaria
Mastocitosis cutánea
Excreción urinaria de glucosaminoglucanos
Aumento de la concentración de ácidos biliares en suero durante el embarazo
Aumento de piruvato sérico
Pleocitosis linfocítica de líquido cefaloraquídeo
Pruebas de función hepática anormales durante el embarazo
Intolerancia al ejercicio
Debilidad muscular de la cintura escapular
Acumulación en subsarcolema de mitocondrias de forma anómala
Anomalía del tejido conjuntivo
Linfedema del miembro inferior predominantemente
Dificultad para subir escaleras
Rigidez muscular
Celulitis debido a inmunodeficiencia
Atrofia de fibra muscular tipo 2
División de fibras musculares
Aumento de la variabilidad en el diámetro de la fibra muscular
Rabdomiólisis inducida por infección viral
Hiperirritabilidad muscular
Distrofia muscular
Talla al nacer menor del percentil 3
Invasión vascular anormal de la metáfisis
Hipobetalipoproteinemia
Sitio frágil en Xq28 folato dependiente
Velocidad de sedimentación globular elevada
Aumento de la prostaglandina E2 de suero
Disminución de la actividad isomerasa glucosafosfato
Deficiencia de cofactor de molibdeno
Propionicacidemia
Citrulina plasmática baja
Aumento de la bilirrubina total
Prueba de bloqueo regitine positiva
Aumento de sodio intracelular
Urotiona urinaria ausente
Aciduria 4-hidroxifenilacética
Células espumosas con cuerpos de inclusión lamelares
Metacromasia en fibroblastos
Prueba de cloruro férrico positiva
Anticuerpos antifosfolípido positivos
Trimetilaminuria
Separación de la heterocromatina centromérica prematura
Amioplasia generalizada
Pérdida de tejido adiposo subcutáneo en las extremidades
Reducción de la actividad de 4 hidroxifenilpiruvato  dioxigenasa
Epinefrina urinaria elevada
Células espumosas en órganos viscerales y SNC
Hemoglobinuria
Perfil de isoforma de transferrina tipo i
Deficiencia de sulfito oxidasa
Tiempo de tromboplastina parcial prolongado
Bicarbonaturia
Defecto de la transferencia de electrones de la oxidoreductasa flavoproteína ubiquinona
Aciduria láctica
Anomalía del metabolismo glucósido
Células espumosas
Mioglobinuria recurrente
Metacromasia celular
Reducción de la actividad dihidropirimidina deshidrogenasa
Reducción de la actividad de n-ii acetilglucosaminiltransferasa
Disminución de la proteína y la actividad beta-glucocerebrosidasa
Depósitos granulares osmiofilicos  en las células
Hipometioninemia
Amiotrofia de la musculatura de la pelvis
Nariz grande con forma de pico
Fibras del músculo esquelético con núcleo de localización central
Disminución de la actividad de la citocromo C oxidasa en el tejido muscular
Deleciones múltiples del ADN mitocondrial
Debilidad muscular de extremidades
Escápula alada
Amiotrofia distal
Debilidad muscular proximal de inicio tardío
Epífisis ausentes de la falange distal del quinto dedo de la mano
Amiotrofia escapuloperoneal
Dificultad para manterse de pie
Amiotrofia generalizada
Debilidad muscular proximal
Debilidad escapuloperoneal
Seudohipertrofia músculo de la pantorrilla
Calambres musculares inducidos por el ejercicio
Hipertrofia muscular
Necrosis de la fibra muscular
Miopatía miofibrilar
Aspecto musculoso generalizado desde el nacimiento
Grasa subcutánea escasa
Edema muscular
Hipertrofia muscular generalizada
Debilidad de la flexión del cuello
Atrofia muscular de la cintura escapular
Músculos firmes
Síndrome de dermatomiositis enteroviral
EMG: descargas miotónicas en trenes o salvas
Debilidad muscular de cuádriceps
Hipertrofia del muslo
Vacuolas autofágicas
Miopatía mitocondrial
Mialgia inducida por el ejercicio
Espasmos mioclónicos
Miotonía con fenómeno de calentamiento
Distrofia muscular congénita
Debilidad muscular de cintura pélvica
Aumento de la fatigabilidad muscular
Debilidad flácida episódica
Fibras tipo 1 relativamente más pequeñas que las de tipo 2
Miopatía esquelética
Disminución del tejido adiposo subcutáneo
Hipoplasia de los vasos linfáticos
Contracciones musculares de balanceo rápido inducidas por la percusión
Calcinosis
Útero didelfo
Bruxismo
Nevo
Psoriasis
Parálisis periódica recurrente
Calcificaciones de la pulpa dentaria
Enfermedad renal crónica estadio 5
Pili torti
Ramas mandibulares cortas
Muescas en antegonio de la mandíbula
Salivación excesiva
Hábito eunucoide
Rotación externa
piernas en abducción
Modificación posttranscipcional  del colágeno tipo 1
Disminución de ácido homovanílico  en líquido cefaloraquídeo
Fibras musculares tipo 1 y tipo 2 con regiones minicore
Miopatía minicore
Depósitos inmunorreactivos a la proteína beta-amiloide
Acortamiento de las falanges medias del pie
Cresta ilíaca Irregular
Atrofia muscular de cinturas
Cuerpos de nemalina
Marcado retraso en la edad ósea
Anomalía muscular relacionada con disfunción mitocondrial
Predominio de fibra muscular tipo 1
Vacuolas festoneadas
Tono muscular anómalo
Ausencia casi completa de tejido adiposo metabólicamente activo
Debilidad muscular distal de inicio tardío
Anomalía de la meseta tibial
Mesetas tibiales con defectos laterales
Luxación del hombro
Subluxación de hombro
Calcificaciones punteadas del hombro
Osificación de los tejidos blandos alrededor de los hombros
Anomalía de las epífisis de los miembros superiores
Retraso en la osificación de las epífisis de las extremidades superiores
Epífisis fragmentados de los miembros superiores
Epífisis irregulares de los miembros superiores
Epífisis redondeada de los miembros superiores
Epífisis pequeñas de los miembros superiores
Ensanchamiento de las placas epifisarias de los miembros superiores
Metáfisis en copa de los miembros superiores
Metáfisis ensanchadas de los miembros superiores
Metáfisis irregulares de los miembros superiores
Defecto lítico en metáfisis de los miembros superiores
Bandas transversales de densidad normal en metáfisis de los miembros superiores
Esclerosis con estrías transversales en metáfisis de los miembros superiores
Esclerosis de metáfisis de los miembros superiores
Espuelas en las metáfisis de los miembros superiores
Ensanchamiento metafisario en miembro superior
Irregularidades de la cortical diafisaria de las extremidades superiores
Engrosamiento de la cortical diafisaria de las extremidades superiores
Esclerosis diáfisis de los miembros superiores
Diáfisis de las extremidades superiores anchas
Ausencia de húmero
Húmero angulado
Húmero bífido
Húmero arqueado o curvado
Trabéculas gruesas del húmero
Irregularidad cortical
Engrosamiento cortical
Adelgazamiento cortical
Húmero arrugado
Húmero deformado
Exostosis de húmero
Húmero varo
Defecto lítico del húmero
Osteoporosis del húmero
Translucencia oval
Nuevo hueso perióstico
Pseudoartrosis
Focos escleróticos del húmero
Esclerosis humeral
Húmero delgado
Húmero cónico
Húmero triangular
Húmero poco modelado
Ensanchamiento humeral
Anomalía de las cabezas humerales
Cabezas humerales aplanadas
Anomalía de la tuberosidad deltoides
Tuberosidades deltoides prominentes
Anomalía de la epífisis humeral
Ausencia de osificación epifisaria humeral
Osificación avanzada de la epífisis humeral
Retraso en la osificación de la epífisis humeral
Epífisis humeral aplanadas
Epífisis humeral irregulares
Osificación irregular de las epífisis humeral
Epífisis humeral grandes
Epífisis humeral redondeada
Epífisis humeral pequeña
Calcificaciones punteadas de la epífisis humeral
Punteado epifisiario del húmero
Epífisis humeral ancha
Ensanchamiento epifisiario de los miembros superiores
Anomalía de la placa de las epífisis humeral
Placa de crecimiento humeral ancha
Anomalía de las metáfisis de húmero
Espuelas de la esquina de la metáfisis humeral
Resorción subperióstica cortical
Metáfisis humeral agrandada
Metáfisis humeral en forma de campana
Metáfisis humeral deshilachada
Metáfisis humeral irregulares
Osificación irregular de metáfisis de húmero
Defecto lítico de la metafisis humeral
Bandas transversales densidad normal
Metáfisis humeral en punta
Metáfisis humeral esclerótica
Metáfisis humeral esclerótica con estrías longitudinales
Metáfisis humeral inclinada
Mesetas tibiales con inclinaciones laterales
Espuela en la metáfisis humeral
Metáfisis humeral cuadrada
Calcificaciones punteadas de metáfisis humeral
Anomalía de la diáfisis humeral
Irregularidad cortical de la diáfisis humeral
Engrosamiento cortical de la diáfisis humeral
Diáfisis humerales con opacidades en vidrio esmerilado
Defecto lítico de la diáfisis del húmero
Nuevo hueso perióstico
Focos escleróticos de diáfisis humeral
Esclerosis de diáfisis humeral
Diáfisis humeral delgada
Ensanchamiento de la diáfisis humeral
Sinostosis comprometiendo el codo
Sinostosis humerocubital
Osteoartritis del codo
Calcificaciones punteadas del codo
Condromatosis sinovial del codo
Anomalía de los espacios de las articulaciones del codo
Espacios articulares del codo estrechos
Superficies articulares irregulares de la articulación del codo
Anomalía de las epífisis del codo
Retraso en la osificación de la epífisis del codo
Epífisis irregulares del codo
Anomalía de las metáfisis de codo
Metáfisis del codo en forma de campana
Metáfisis irregulares del codo
Focos escleróticos de metáfisis del codo
Ausencia de huesos del antebrazo
Huesos del antebrazo angulados
Apariencia de hueso en hueso en el antebrazo
Huesos del antebrazo arqueados
Engrosamiento cortical de los huesos del antebrazo
Fusión cruzada  de los huesos del antebrazo
Huesos del antebrazo deformados
Exostosis de los huesos del antebrazo
Huesos del antebrazo fracturados
Defecto lítico de los huesos del antebrazo
Osteoporosis en los huesos del antebrazo
Pseudoartrosis de los huesos del antebrazo
Focos escleróticos en los huesos del antebrazo
Huesos del antebrazo escleróticos
Huesos del antebrazo delgados
Huesos del antebrazo poco modelados
Huesos del antebrazo anchos
Ensanchamiento de la articulación radiocubital
Ausencia de radio
Radio en forma de cono o Chevron-like
Radio contraído
Radio deformado
Fractura de radio
Defecto lítico del radio
Pseudoartrosis del radio
Radio ancho
Ausencia de peroné
Cúbito dislocado hacia posterior
Exostosis del cúbito
Exostosis del radio
Fractura de cúbito
Cúbito largo
Cúbito mellado - hendido
Cúbito en punta
Osteosclerosis del cúbito
Cúbito delgado
Cúbito ancho
Muñeca dislocada
Anomalía de la cabeza radial
Cabeza del radio aplanada
Cabeza del radio hipoplásico
Cuello radial contraído
Anomalía de las epífisis radial
Epífisis radial en forma de cono o Chevron-like
Epífisis radial anómala en la región medial
Epífisis radial aplanadas
Epífisis radial aplanada hacia medial
Epífisis radiales irregulares
Epífisis radial grandes
Epífisis radial redondeada
Epífisis radiales escleróticas
Epífisis radial inclinada
Angulación medial de la epífisis radial
Epífisis radial pequeña
Fusión prematura de las placas epifisarias radiales
Placas epifisarias radiales fusionadas medialmente
Placa de crecimiento radial ancha
Anomalía de metáfisis radial
Metáfisis radial en copa
Exostosis de la metáfisis radial
Metáfisis radial en forma de campana
Metáfisis radial Irregular
Osificación irregular de la metáfisis radial
Defecto lítico de metáfisis radial
Metáfisis radial esclerótica con estrías longitudinales
Metáfisis radial inclinada
Angulación medial de la metáfisis radial
Espuelas en las metáfisis radiales
Metáfisis radial ancha
Anomalía de la diáfisis radial
Espuelas de la diáfisis radial
Defecto lítico de diáfisis radial
Esclerosis irregular de la diáfisis radial
Diáfisis radial ancha
Anomalía del olécranon
Olécranon curvado
Olécranon irregular
Anomalía de la apófisis estiloides
Apófisis estiloides largos del radio
cúbito
Anomalía de las epífisis cubital
Espículas óseas de la placa de las epífisis cubital
Anomalía de metáfisis cubital
Fragmentos de la extremidad de la metáfisis cubital
Metáfisis cubital en copa
Metáfisis cubital Irregular
Defecto lítico de metáfisis cubital
Metáfisis cubital en punta
Metáfisis cubital inclinada
Espuelas en la metáfisis cubital
Ensanchamiento de la metafisis cubital
Espacios articulares de la muñeca estrechos
Disminución del ángulo carpiano de la muñeca
Ausencia de mano
Osificación avanzada de los huesos de la mano
Retraso en la osificación de los huesos de la mano
Maduración de los huesos de la mano disarmónica
Esclerosis del hueso de la mano
Deformidad en manopla
Monodactilia
Desviación radial de la mano
Mano en tridente
Dedos de la mano curvados
Desviación del dedo de la mano
Macrodactilia
Anomalía del segundo dedo de la mano
Surco de la línea media de la nariz
Defecto de la línea media de la nariz
Hoyuelo en la punta nasal
Anomalía del tercero dedo de la mano
Anomalía de la falange media del tercer dedo de la mano
Falange distal corta del tercer dedo de la mano
Anomalía del cuarto dedo de la mano
Defectos osteolíticos de las falanges del cuarto de la mano
Sinfalangismo del cuarto dedo de la mano
Anomalía del quinto dedo de la mano
Clinodactilia del quinto dedo de la mano
Anomalía de las falanges del quinto dedo de la mano
Falanges curvadas del quinto dedo de la mano
Defectos osteolíticos de las falanges del quinto de la mano
Sinfalangismo del quinto dedo de la mano
Anomalía de la falange media del quinto dedo de la mano
Acortamiento de la falange media del quinto dedo de la mano
Epífisis en forma de cono de la falange distal del quinto dedo de la mano
Epífisis de marfil de la falange distal del quinto dedo de la mano
Anomalía de la epífisis de la falange media del quinto dedo de la mano
Anomalía de la falange distal del quinto dedo de la mano
Falange distal curvada del quinto dedo de la mano
Falange distal corta del quinto dedo de la mano
Subluxación de la articulación interfalángica proximal del quinto dedo de la mano
Aplasia de los huesos carpianos
Huesos del carpo accesorios
Osificación avanzada de los huesos del carpo
Apariencia de hueso en hueso en los huesos del carpo
Huesos del carpo en forma de comas
Huesos del carpo irregulares
Huesos del carpo agrandados
Defecto lítico de los huesos del carpo
Desplazamiento proximal de los huesos del carpo
Focos escleróticos en los huesos del carpo
Calcificaciones punteadas en los huesos del carpo
Huesos del carpo anchos
Anomalía del escafoides
Escafoides accesorio
Escafoides en forma de comas
Retraso en la osificación del escafoides
Escafoides pequeño
Anomalía del hueso semilunar
Semilunar accesorio
Semilunar desplazado hacia proximal
Fusión semilunar-piramidal
Anomalía del trapecio
Ausencia de osificación del hueso trapecio
Retraso en la osificación del trapecio
Trapecio pequeño
Anomalía del hueso trapezoide
Retraso en la osificación del hueso trapezoide
Hueso trapezoide pequeño
Anomalía del hueso ganchoso
Hueso ganchoso grande
Ensanchamiento del hueso ganchoso
Anomalía del hueso grande
Hueso grande agrandado
Espacios articulaciones del carpo estrechas
Estrechamiento de las pequeñas articulaciones de la mano
Osteoartritis de las articulaciones pequeñas de las manos
Subluxación de pequeñas articulaciones de las manos
Engrosamiento cortical de huesos de la mano
Adelgazamiento cortical de huesos de la mano
Metáfisis en copa de huesos de la mano
Osificación deficiente de los huesos de la mano
Duplicación de huesos de la mano
Exostosis de huesos de la mano
Huesos de la mano fracturados
Sinostosis comprometiendo huesos de la mano
Acortamiento de la palma
Osificación irregular de los huesos de la mano
Esclerosis irregular de los huesos de la mano
Palma estrecha
Huesos de la mano con muescas - hendidos
Huesos de la mano sobremodelados
Esclerosis irregular de los huesos de la mano
Huesos de la mano en punta
Pseudoepífisis de huesos de la mano
Focos escleróticos en huesos de la mano
Esclerosis de los huesos de la mano con estrías transversales
Calcificaciones punteadas de huesos de la mano
Huesos de la mano poco modelados
Sinostosis del segundo metacarpiano - trapezoide
Subluxación de las articulaciones metacarpo - falángicas
Anormalidad de la mucosa gástrica
Anormalidad de la vasculatura gastrointestinal
Anormalidad del sistema biliar
Anormalidad de la pared abdominal
Hernia de la pared abdominal
Problemas motores funcionales
Anomalía de las fibras musculares
Movimientos involuntarios
Anomalía del endocardio
Localización anatómica anormal del corazón
Arritmias ventriculares
Preexcitación ventricular
Alteración de los macrófagos
Alteración de los reticulocitos
Hipogammaglobulinemia
Déficit de IgG
Hipoaldosteronismo
Fístula vaginal
Fístula de la vejiga
Talla baja
Anormalidad del peso corporal
Aumento de peso corporal
Disminución del peso corporal
Caquexia
Anomalía del humor vítreo
Anomalía del segmento anterior del ojo
Anomalía del segmento posterior del ojo
Aumento de la osificación del cráneo
Disminución de la osificación del cráneo
Alteración de los linfocitos
Células espumas en la médula ósea
Atrofia dérmica
Mielina excesiva
Anomalía del metabolismo de aminoácidos
Anomalía del metabolismo de la familia de aminoácidos aromáticos
Anomalía del metabolismo de aminoácidos sulfúricos
Anomalía del metabolismo de la vitamina b
Anomalía del metabolismo de la vitamina b12
Anomalía del metabolismo galactosido
Anomalía del metabolismo de los glicoesfingolípidos
Anormalidad del metabolismo de la cerebrosidasa
Anomalía del metabolismo de gangliósidos
Debilidad de los músculos de la respiración
Anomalía de la densidad mineral ósea
Reducción de la densidad mineral ósea
Anomalía del metabolismo de las purinas
Anomalía del metabolismo de las pirimidinas
Anormalidad del metabolismo del ácido carboxílico
Anomalía del metabolismo de proteoglicanos
Anomalía del metabolismo lisosomal
Anomalía del metabolismo de la leucina
Anomalía del metabolismo de superóxido
Anomalía del metabolismo de los ácidos grasos
Anormalidad de la homeostasis ácido-base
Alteración del nivel plasmático de leptina
Anomalía de ganglios entéricos
Anormalidad de la homeostasis del calcio
Anormalidad de la homeostasis de compuestos nitrogenados
Anomalía del metabolismo del triptófano
Anomalía de la glucólisis
Anomalía del metabolismo de la glicoproteína
Aumento de los niveles de purina
Disminución de los niveles de purina
Anomalía de regulación de la temperatura
Anomalía del metabolismo de glicosaminoglicanos
Conciencia reducida
confusión
Distonía focal
Hemiplejía
hemiparesia
Neoplasia del sistema nervioso
Tumores neuroblásticos
Neoplasia hematológica
Anormalidad del ano
Anormalidad de la actividad de la fosfatasa alcalina
Calcificación de la válvula aórtica
Estenosis aórtica supravalvular
Calcificación de la válvula mitral
Corazón izquierdo hipoplásico
Tronco  tipo I
Diarrea prolongada
Inflamación gastrointestinal
Enterocolitis
Microcolon
Pseudo-obstrucción intestinal
Pólipos hamartomatosos
Prune belly
Pólipos gástricos múltiples
Desnutrición
Falta de apetito
Ano ectópico
Úlcera péptica
Atresia pilórica congénita
Anormalidad del píloro
Íleo meconial
Atresia esofágica proximal
Anomalía del pezón
Pezones prominentes
Epistaxis recurrentes espontáneas
Abombamiento ósea paranasal
Anomalía del sentido del olfato
Hiposmia
Desviación del tabique nasal
Anomalía de la arteria pulmonar
Estenosis de la arteria pulmonar
Ateroesclerosis precoz
Claudicación intermitente
Tromboflebitis
Tromboflebitis recurrente
Trombosis arterial
Presión arterial sistólica elevada
Estrechamiento biparietal
Cráneo bífido oculto
Frente plana
Anomalía de las mejillas
Cara de duende
Infecciones virales recurrentes
Inmunodeficiencia combinada severa
Deficiencia del complemento
Agammaglobulinemia
Deficiencia de IgA secretora
Deficiencia de C8
Hiperostosis craneal
Hiperostosis frontal interna
Disostosis craneofacial
Craneosinostosis coronaria
Craneosinostosis sagital
Craneosinostosis lambdoidea
Esferocitosis
Eliptocitosis
Estomatocitosis
Poiquilocitosis
Insuficiencia hepática fulminante
Surco cutáneo preauricular
Apéndice cutáneo postauricular
Anomalía de los huesecillos del oído medio
Sobreplegamiento de la parte superior del hélix
Reflejos anormales del oído medio
Conducto auditivo interno dilatado
Exostosis del conducto auditivo externo
Fositas congénitas del lóbulo de la oreja
Ausencia de respuesta en los potenciales auditivos del tallo cerebral
Fosita cutánea postauricular
Potenciales evocados auditivos de tronco cerebral prolongados
Fosita cutánea preauricular
Cartílago traqueal anómalo
Bronquitis crónica
Cefalocele occipital
Aplasia cutis congénita sobre el vértice del cuero cabelludo
Hiperostosis mandibular
Persistencia de la fontanela anterior abierta
Aplasia cutis congénita en el área parietal
Encefalocele etmoidal
Macrocefalia progresiva
Macrocefalia relativa
Asimetría craneofacial
Cese del crecimiento de la cabeza
Acrobraquicefalia
Macrocefalia congénita
Hiperostosis de la calota
Fontanela posterior amplia
Fontanelas y suturas amplias
Hiperostosis craneofacial
Narinas antevertidas estrechas
Atresia posterior de coanas
Rinitis crónica debido a vía aérea nasal estrecha
Atresia de coanas bilateral
Hiperplasia de células de los islotes pancreáticos
Cejas largas
Hipotricosis de la región temporal
Pigmento en cúmulos gruesos de distribución irregular a lo largo del tallo del cabello
Hipotricosis generalizada
Alopecia atrófica en parches
Hipertricosis sacra
Hipertricosis cervical anterior
Hipertricosis generalizada congénita
Inserción anterior del cabello en punta
Alopecia cicatricial del cuero cabelludo
Hipertricosis generalizada
Fusión vertebral anterior
Platispondilia cervical
Cuerpos vertebrales T12-L3 con lengüetas o picos
Incremento de la densidad ósea de la columna
Platispondilia severa
Vértebras en forma de pera
Cuerpos vertebrales con lengüetas o picos
Aumento de la altura vertebral
Ensanchamiento del canal espinal cervical
Acuñamiento anterior de T11
Fusión de articulaciones facetarias cervical media
Placas terminales vertebrales escleróticas
Festoneado anterior de los cuerpos vertebrales
Aumento de la altura vertebral anterior
Irregularidad de los cuerpos vertebrales
Cuerpos vertebrales bicóncavos
Displasia de segunda vértebra lumbar
Sacro hipoplásico
Cuerpos vertebrales en forma de disco
Platispondilia torácica
Montículo con forma de joroba de hueso en las partes centrales y posterior de la placa terminal vertebral
Centros de osificación vertebral supernumerarios
Cuerpos vertebrales ausentes o mínimamente osificados
Espina bífida oculta en l5
Fusión vertebral cervical
Placas terminales del cuerpo vertebral hiperconvexas
Ausencia de mineralización de los cuerpos vertebrales
Cuerpos vertebrales sin osificación
Protusiones anteriores en forma de lengüeta de las vértebras torácicas inferiores
Odontoides posicionado en forma anterior
Distorsión irregular de las vértebras
Estenosis del canal lumbar espinal
Concavidad anterior de las vértebras torácicas
Espina bífida oculta en s1
Arco vertebral hendido
Arcos vertebrales en mariposa
Cuerpos vertebrales con apariencia de sandwich
Cifoescoliosis lumbar
Pedículos vertebrales agrandados
Disminución progresiva del espacio intervertebral
Cuerpos vertebrales biconvexos
Escoliosis lumbar
Cuerpos vertebrales cervicales pequeños
Protusiones anteriores en forma de lengüeta de las vértebras torácicas
Disminución de la flexión de la columna cervical debido a contracturas de los músculos cervicales posteriores
Defectos de segmentación de la columna cervical
Cifosis de vértebras torácicas bajas
Cuerpos vertebrales de forma cuboides
Fusión de las vértebras cervicales
Disminución de la movilidad de la columna cervical
Alfafetoproteína elevada en líquido amniótico
Hipoplasia del hueso nasal
Hipoplasia de la musculatura facial
Debilidad muscular de los músculos de la frente
Hemangioma facial de la línea media
Disminución de la expresión facial
Arcos superciliares prominentes en adultos
Huesos del tarso grandes
Pliegue plantar profundo longitudinal
Talipes valgo
Acortamiento del tercer metatarsiano
Huesos del tarso irregulares
Cuarto metatarsiano corto
Tendón de aquiles engrosado
Sindactilia de dedos 2-3 del pie
Sindactilia de dedos 4-5 del pie
Punteado de la epífisis del calcáneo
Talipes cavo equinovaro
Osteoporosis metatarsal
Quinto metatarsiano corto
Malrotación renal
Insuficiencia renal reversible
Mala rotación axial del riñón
Riñones hiperecogénicos
Engrosamiento de la membrana basal glomerular
Nefrolitiasis por calcio
Alteración en la capacidad de concentración renal
Nefritis tubulointersticial aguda
Alteración en el aclaramiento de ácido úrico renal
Microquistes corticales renales
Ectopia renal cruzada con fusión
Glomeruloesclerosis global
Anormalidad del sistema colector renal
Nefritis tubulointersticial crónica
Enfermedad de depósitos densos
Aleteo auricular
Taquicardia ventricular paroxística
Disociación auriculoventricular congénita
Fibrilación auricular permanente
Taquicardia supraventricular
Taquicardia ventricular
Fibrilación auricular paroxística
Taquicardias ventriculares polimórficas inducida por esfuerzo
Enfermedad de la válvula aórtica calcificada nodular
Defecto septal congénito
Reestenosis de la arteria coronaria después de la angioplastia
Hipoplasia del ventrículo derecho
Taquicardia supraventricular paroxística
Degeneración mixomatosa de la válvula mitral
Pelo escaso en zona anterior del cuero cabelludo
Encanecimiento prematuro del vello corporal
Pelo del cuero cabelludo frágil
Hipertricosis del codo
Hipotricosis del cuero cabelludo
Poliposis duodenal
Poliposis juvenil gastrointestinal
Malrotación de colon
Divertículos de yeyuno
Hepatitis fulminante
Linfedema intestinal
Intolerancia a la lactosa
Hipoplasia del intestino delgado
Ulceración esofágica
Fístula rectoperineal
Malrotación del intestino delgado
Pólipos estomacales hamartomatosos
Obstrucción gastrointestinal
Múltiples atresia del intestino delgado
Infección recurrente del tracto gastrointestinal
Divertículos yeyunoileal
Divertículos duodenales
Anemia hemolítica episódica
Anemia hemolítica congénita
Leucemia mieloide aguda
Trombocitopenia aloinmune neonatal
Anemia hipoplásica congénita
Leucemia linfoblástica aguda de células pre-B
Trombocitopenia postransfusional
Anemia hemolítica inducida por habas
Anemia hemolítica sensible a fármacos
Hemoglobinuria paroxística nocturna
Anemia hipoplásica normocítica
Leucemia mielomonocítica aguda
Hipersegmentación de los núcleos de los neutrófilos
Eliptocitosis atípica
Anisopoiquilocitosis
Aumento de la afinidad por el oxígeno de la hemoglobina
Anemia megaloblástica resistente a folato
Anemia refractaria con sideroblastos en anillo
Tromboembolismo recurrente
Microesferocitosis
Leucemia promielocítica aguda
Piropoikilocitosis
Anemia microcítica hipocrómica
Disminución de la actividad del factor XII
Anemia hemolítica Coombs positiva
Leucemia monocítica aguda
Sangrado prolongado tras cirugía
Leucemia linfoblástica aguda Philadelphia positiva
Trombosis venosa profunda recurrente
Anemia megaloblástica sensible a folato
Reducción de fosfatasa alcalina de leucocitos
Trombocitopenia intermitente
Disminución de la actividad de la proteína S
Anemia microcítica normocrómica
Anemia macrocítica hipercrómica
Trombocitopenia amegacariocítica
Anemia megaloblástica sensible a tiamina
Anemia macrocítica refractaria
Anemia hemolítica compensada
Anemia sideroblástica refractaria
Alteración de la agregación plaquetaria inducida por ADP
Anemia hemolítica crónica
Fístula perineal
Hernia incisional
Estridor inspiratorio neonatal
Neumotórax espontáneo neonatal
Debilidad muscular intercostal
Hiperventilación intermitente
Infecciones respiratorias del recién nacido
Hipoventilación episódica
Dificultad respiratoria episódica
Estridor laríngeo congénito
Fallo respiratorio que requiere ventilación asistida
Episodios intermitentes de insuficiencia respiratoria debido a la debilidad muscular
Presión arterial pulmonar elevada
Infecciones recurrentes por aspiración
Estenosis traqueal
Estrés
acidosis láctica inducida por la infección
Acidosis láctica persistente
Acidosis láctica severa
Acidemia láctica inducida por el ejercicio
Acidosis láctica congénita
Diabetes tipo MODY
Deficiencia de vitamina a
Deshidratación hipernatrémica
Alcalosis metabólica hipocalemica hipoclorémica
Acidosis tubular renal con perdida del bicarbonato
Acidosis metabólica episódica
Raquitismo hipofosfatémico
Acidemia láctica intermitente
Hipoglucemia infantil recidivante
Deterioro del metabolismo de la galactosa
Ácidosis tubular distal generalizado
Acidosis metabólica hiperclorémica
Intolerancia a la galactosa
Acidemia fenilpirúvica
Anomalía de la homeostasis del magnesio
Hiperfenilalaninemia atípica
Hiperfenilalaninemia
Tolerancia oral a la glucosa anormal - alterada
Acidosis láctica crónica
Hipotensión ortostática debido a disfunción autonómica
Dilatación de la arteria pulmonar
Estenosis arterial periférica
Aterosclerosis coronaria
Anomalía de la vasculatura pulmonar
Arteriosclerosis de pequeñas arterias cerebrales
Disección aórtica ascendente
Calcificación vascular
Atresia de la arteria pulmonar
Trombosis venosa
Aneurisma de la arteria pulmonar
Arterias cerebrales tortuosas
Calcificación arterial generalizada
Hipertensión portal extrahepática
Aneurisma aórtico
Aterosclerosis acelerada
Aneurisma cerebral
Disección de la arteria carótida interna extracraneal
Fístula arteriovenosa
Tortuosidad vascular
Enfermedad arterial periférica
Fístulas arteriovenosas pulmonares
Aneurisma de la aorta abdominal
Aneurisma de aorta descendente
Tortuosidad arterial generalizada
Dilatación de la aorta torácica descendente
Arteria pulmonar ausente
Honda de la arteria pulmonar
Calcificación de la aorta torácica
Calcificación de la aorta
Hipertrofia medial de la arterial pulmonar
Calcificación de la media de las grandes arterias
Hemorragia cerebral recurrente
Estenosis de la arteria pulmonar periférica
Dilatación aórtica ascendente
Hipoplasia de la arteria pulmonar
Presión arterial media elevada
Coartación de aorta abdominal
Deformidad de los fémures en matraz de Erlenmeyer
Dislocación de rodilla
Aplasia radial bilateral
Esclerosis metafisaria
Rarefacción metafisaria
Procesos estiloides cubitales prominentes
Acortamiento mesomélico de la pierna
Líneas epifisiarias
Acortamiento rizomélico del brazo
Huesos largos y delgados con diáfisis estrechas
Osificación multicéntrica de las epífisis proximales del húmero
Luxación rotuliana recidivante
Aplasia
hipoplasia de la epífisis capital femoral
Epífisis radial proximal aplanadas
Incurvación del fémur al nacer que mejora con el tiempo
Luxación de grandes articulaciones
Húmero en forma de mancuernas
Osteomielitis que conduce a la amputación debido a la lenta curación de las fracturas
Acortamiento mesomélico del brazo
Epífisis distal del radio displásicos
Condrocalcinosis poliarticular
Engrosamiento diafisario
Luxaciones de codo bilateral
Hipoplasia del húmero distal
Acortamiento del miembro mesomélico
rizomélico
Ensanchamiento de la metáfisis tibial proximal
Hipoplasia cubital distal
Acortamiento de todas las falanges de los dedos de los pies
Hipoplasia cubital unilateral
Sinostosis radiocubital proximal
Exostosis múltiples de huesos largos
Epífisis femoral irregular
Metáfisis irregulares similares al raquitismo
Irregularidad de la metáfisis del húmero proximal
Esclerosis cortical diafisaria
Sinostosis de los huesos del carpo
Dislocación anterolateral de la cabeza radial
Espículas metafisarias
Artralgia
artritis
Disminución de la extensión
flexión del codo
Epífisis irregulares y fragmentadas
Epífisis en forma de cono fusionadas dentro de sus metáfisis
Crecimiento excesivo del peroné proximal
Procesos estiloides ausentes del radio
cúbito
Reducción de miembro rizo-meso-acromélico
Luxación proximal de la cabeza radial
Hiperextensibilidad en las muñecas
Luxación anterior de la cabeza radial
Disminución de la extensión
flexión de la rodilla
Osteoartritis de rodilla
Trabeculación metafisaria anormal
Inclinación lateral del fémur
Esclerosis metafisaria en bandas
Ausencia de la epífisis radial proximal
Incurvación del fémur distal
Hidropesía fetal grave
Parto prematuro por rotura prematura de membranas fetales
Discapacidad auditiva
hipoacusia para frecuencias altas
Degeneración coclear
Calcificación del cartílago auricular
Tabique nasal hipoplásico
Morfología nasal anormal
Anomalía de los platillos vertebrales
Anomalía del sacro
Anomalía del disco intervertebral
Anomalía del tendón de Aquiles
Fibrilación auricular
Dilatación de la aorta ascendente
Dilatación de la aorta abdominal
Dilatación del arco aórtico
Anomalías de las arterias periféricas
Arritmia supraventricular
Tortuosidad arterial
Presión arterial diastólica elevada
Anomalía de la aurícula cardíaca
Festoneado posterior de los cuerpos vertebrales
Hipertrofia congénita del ventrículo izquierdo
Insuficiencia cardíaca restrictiva
Constricción pericárdica
Dilatación del ventrículo derecho
Válvula pulmonar ausente
Anomalías de la onda T en el ECG
Calcificación precoz del anillo mitral
Episodios de taquicardia ventricular
Origen anómalo de la arteria pulmonar derecha desde la aorta ascendente
Hipertrofia septal ventricular izquierda
Estenosis de la arteria coronaria
Calcificación de la válvula cardíaca
Ectopia ventricular bidireccional
Defectos de la válvula pulmonar
Conducción atrioventricular anormal
Coartación de la aorta preductal
Cardiomiopatía oncocítica
Ritmos de escape ventriculares
Atrio izquierdo hipoplásico
Miocardiopatía hipertrófica concéntrica
Retorno venoso pulmonar tota anómalo
Deterioro de la función ventricular izquierda
Válvula pulmonar displásica
Intervalo pr acortado
Presión de la aurícula derecha elevada
Bloqueo cardíaco completo con complejos rs amplios
Bloqueo fascicular posterior izquierdo
Estenosis de la válvula aórtica calcificada
Estenosis aórtica subvalvular membranosa
Válvula aórtica displásica
Arterioesclerosis prematura
Bloqueo cardíaco completo con complejos qrs estrechos
Regurgitación tricuspídea
Enfermedad de la arteria coronaria prematura
Válvula pulmonar bicúspide
Linfangiectasia pericárdica
Intervalo QTC prolongado
Disfunción sistólica global
Hipertrofia sinovial
Destrucción progresiva de las articulaciones
Hiperextensibilidad articular proximal de dedo de la mano
Luxación de rodilla congénita
Restricción del movimiento de las grandes articulaciones
Cabezas de los metatarsianos aplanadas
Artropatía poliarticular
Rigidez matutina generalizada
Articulaciones interfalángicas rígidas
Aplasia de la musculatura de la pared abdominal
Fibrosis retroperitoneal
Sistema venoso anómalo esplenoportal
Infección por helicobacter pylori
Perforación esofágica espontánea
Pseudoquiste pancreático
Hipertrofia gástrica
Diarrea secretora
Quistes intrahepáticos del conducto biliar
Colon hipoplásico
Malrotación del intestino medio
Leucoplasia de la mucosa anal
Calcificación pancreática
Obstrucción intestinal
Infestación frecuente por giardia lamblia
Dificultad para la masticación
Duplicación de los órganos internos
Fístula anoperineal
Ausencia del factor intrínseco
Neurofibromatosis intestinal múltiple
Diverticulosis intestinal
Colon duplicado
Absceso rectal
Edema intestinal
Poliposis colónica adenomatosa
Ulceración yeyunoileal
Obstrucción del tracto biliar
Gastritis crónica
Displasia de páncreas
Hipoplasia de la vesícula biliar
Obstrucción intestinal neonatal
Atresia yeyunal
Pancreatitis crónica calcificante
Enfermedad hepática degenerativa
Pólipos intestinales
Obstrucción esofágica
Aganglionosis intestinal total
Atresia de vías biliares extrahepáticas
Agenesia parcial del músculo abdominal
Infartos gastrointestinales
Hipoplasia intestinal
Gastritis hipertrófica gigante
Hipoplasia de la musculatura de la pared abdominal
Atresia biliar intrahepática
Obstrucción intestinal funcional
Obstrucción intestinal alta
Aumento de diámetro anterioposterior de tórax
Hipoplasia torácica unilateral
Ausencia del músculo pectoral menor
Ausencia unilateral del músculo pectoral mayor
Hipoplasia torácica
Hipoplasia
aplasia del músculo pectoral
Osificación anormal del hueso del pie
Hemorragia articular o hemartrosis
Anomalía del líquido sinovial
Gastritis
Anormalidad de la vesícula biliar
Anormalidad del yeyuno
Pólipo intestinal
Parto prematuro debido a insuficiencia cervical o fragilidad de membranas
Aborto espontáneo
Pliegue nasolabial prominente
Ausencia del cartílago del septo nasal
Punta nasal prominente
Osificación cartilaginosa de la nariz
Punta nasal hipoplásico
Puente nasal deprimido
Puente nasal hipoplásico
Ausencia de puente nasal
Anomalía de las fosas nasales
Anomalía de la región nasolabial
Hipoplasia de la arteria carótida interna
Arteriopatía inflamatoria
Engrosamiento de la íntima en las arterias coronarias
Insuficiencia venosa
Disección arterial
Seudocoartación de la aorta
Enfermedad vascular oclusiva
Enfermedad vascular oclusiva prematura
Defecto del canal atrioventricular con aorta ventricular derecha y atresia pulmonar
Enfermedad vascular periférica prematura
Vasculitis inflamatoria nodular
Vena cava superior izquierda persistente
Tortuosidad de la arteria carótida
Calcificación del arco aórtico
Venas pulmonares hipoplásicos
Trombosis venosa cerebral
Hemangiomas capilares
Hipotensión postural con taquicardia compensatoria
Vasoconstricción de la arteria pulmonar
Insuficiencia vascular periférica
Vasculitis de grandes vasos
Agenesia de vasos pulmonares
Fibrosis de la íntima aterial pulmonar
Displasia fibromuscular arterial
Ramas anómalas de la arteria carótida interna
Enfermedad arterial oclusiva
Aplasia periférica de los vasos pulmonares
Aumento de la resistencia vascular pulmonar
Vasculitis cerebral
Ausencia de grasa subcutánea facial
Disostosis mandibulofacial
Tabique nasal prominente
Hipertrofia hemifacial
Alteración de la expresión facial
Extensión del crecimiento del pelo en la región temporal hacia las cejas
Filtro hipoplásico
Pérdida de expresión facial
Aspecto facial progeroide
Expresión facial fija
Subluxaciones mandibulares recurrentes
Expresión facial dormida
Hiperpigmentación de la frente
Ceja poco pobladas en su porción lateral
Alteración del sistema del complemento
Vejiga espástica
hiperactiva
Disfunción autonómica de la vejiga
Hipoplasia de la vejiga
Anomalía de las arterias carótidas
Anomalía de la vena cava
Expresión facial anómala
Tráquea cartilaginosa
Estridor inspiratorio
Hipoplasia de la epiglotis
Inmunodeficiencia severa de células T
Susceptibilidad al virus del herpes
Ausencia de la inmunidad celular
Disminución sérica del factor I del complemento
Diferenciación defectuosa de células B
Aplasia del timo
Susceptibilidad a la varicela
Inmunodeficiencia humoral parcial
Infecciones virales severas
Linfocitopenia B severa
Infecciones recurrentes por streptococcus pneumoniae
Alteración de la inmunidad humoral
Disminución sérica del factor H del complemento
Alteración de la fisiología de las células B
Inmunodeficiencia celular
Inmunodeficiencia celular parcial
Infecciones recurrentes por Haemophilus influenzae
Linfocitopenia T severa
Enfermedad meningocócica recurrente
Activación defectuosa de células B
Infecciones recurrentes por protozoos
Inmunodeficiencia combinada
Agotamiento de los componentes de la vía alternativa del complemento
Infecciones oportunistas recurrentes
Susceptibilidad al coronavirus 229e
Procesos celulares inmunes exagerados
Disminución de la motilidad de los neutrófilos
Infecciones recurrentes por cándida
Alteración inmunitaria primaria de linfocitos T
Linfocitopenia T severa
Aumento en el número de células B
Infecciones bacterianas recurrentes de la piel
Disminución del número de células T CD4 +
Reducción marcada de la función de las células T
Candidiasis intestinal crónica
Aumento de la alfa-globulina
Disminución del número de células T CD8 +
Disminución sérica del factor B del complemento
Disminución de la activación de células T
Infecciones recurrentes por bacterias gramnegativas
Disminución sérica de C3 del complemento
Ausencia de células T CD8 +
Vía alternativa del complemento disfuncional
Ausencia de la respuesta específica de anticuerpos
Infecciones sinopulmonares recurrentes
Recurrencia grave de varicela
Infecciones piógenas sistémicas recurrentes
Infecciones recurrentes por Neisseria
Hipogammaglobulinemia transitoria de la infancia
Alteración de la función de células T
Infecciones recurrentes en la infancia y la niñez temprana
Hipoplasia del complejo maxilo-cigomático
Suturas craneales escleróticas
Persistencia de la sutura coronal no osificada
Fosa posterior ensanchada
Ángulo obtuso de la mandíbula
Silla turca en puente
Osteosclerosis del cráneo
Disminución de la osificación del base del cráneo
Ausencia o hipoplasia de senos paranasales
Ausencia de senos etmoidales
Cierre prematuro de las fontanelas
Desproporción craneofacial
Calcificación de la hoz cerebral
Silla turca alargada
Osteosclerosis Craneofacial
Hiperostosis facial
Hipoplasia del hueso frontal
Occipucio plano
Craneosinostosis de la órbita
Fusión de los huesecillos del oído medio
Disminución de la osificación de la bóveda craneal
Persistencia de la sutura sagital no osificada
Esclerosis progresiva de la base del cráneo
Senos frontales prominentes
Déficit de IgE
Alteración de la vía alterna del complemento
Alteración de la epiglotis
Microcefalia postnatal
Fontanela pequeña
Cresta metópica prominente
Macrocefalia postnatal
Cierre prematuro de la fontanela posterior
Sutura metópica abierta hasta la raíz nasal
Hoyuelos en la línea media sobre las fontanelas anterior
posterior
Aumento de la fragilidad osmótica de los glóbulos rojos
Anemia refractaria
Leucemia mieloide crónica
Hemoglobina Barts
Macroglobulinemia de Waldenstrom
Eritroblastopenia transitoria
Anemia de cuerpos de Heinz
Alteración de la capacidad de los neutrófilos para eliminar los estafilococos
Aumento del recuento de megacariocitos
Linfoma
leucemia de células T
Macrocitosis eritrocitaria
Coagulación intravascular diseminada crónica
Coagulación intravascular diseminada
Anemia sideroblástica piridoxina-sensible
Trastorno linfoproliferativo
Enfermedad hemolítica macrocítica
Crisis hemolíticas espontáneas
Leucemia linfoide
Disminución de la actividad del quininógeno
Hipocelularidad de la médula ósea
Leucemia aguda bifenotípica
Anemia macrocítica diseritropoyética
Síndrome mieloproliferativo transitorio
Hemólisis inducida por el ejercicio
Disminución del volumen medio de las plaquetas
Linfoma
leucemia linfocítica crónica de células T
Queratocitosis de glóbulos rojos
Agranulocitosis congénita
Tiempo de coagulación de sangre total prolongado
Disminución de la actividad de la proteína C
Aumento de la resistencia osmótica de los glóbulos rojos
Trastorno mieloproliferativo
Megacariocitopenia
Neutropenia congénita
Leucemia linfática crónica
Anomalía de la sutura metópica
Anomalía del arco cigomático
Leucemia crónica
Anomalía del sistema calicreína-quinina-
Síntesis desbalanceada de hemoglobina
Alteración de la morfología celular de la médula ósea
Quistes renales múltiples
Disminución en el número de nefronas
Ausencia de diferenciación córtico-medular renal
Reducción de la diferenciación cortico-medular renal
Perdida renal de magnesio
Aumento de la reabsorción tubular renal de fosfato
Disminución de la excreción de fosfato tubular renal
Tubulopatía proximal no acidótico
Síndrome hemolítico urémico
Fibrosis tubulointersticial
Alteración de la reabsorción de cloruro
Duplicación de la pelvis renal
Desintegración de la membrana tubular basal
Carcinoma de células renales
Hiperpigmentación irregular en grano
Hiperpigmentación en áreas expuestas al sol
Lesiones cutáneas pigmentadas profusas
Queratodermia palmoplantar en placas
Hipopigmentación irregular en grano
Melanosomas gigantes en los melanocitos
Hipopigmentación en rayas, manchas o remolinos
Hiperqueratosis generalizada
Alopecia total congénita
Telangiectasia facial con distribución en mariposa
Hipopigmentación del pelo
Nevus melanocítico congénito gigante
Vitíligo progresivo
Nevos melanocíticos congénitos numerosos
Manchas café con leche con bordes irregulares
Manchas lineares y nevos hiperpigmentados
Alteración del sistema traqueobronquial
Vesícula bilobulada
Disfunción de la vesícula biliar
Anomalía de la mano simil-artrogriposis
Aplasia
hipoplasia del fémur
Maduración esquelética acelerada
Camptodactilia bilateral
Cifosis toracolumbar
Hipermovilidad de las articulaciones interfalángicas
Cuerpos vertebrales con forma trapezoidal
Huesos largos anchos
Ausencia de osificación de la bóveda craneal
Osteoporosis vertebral
Fusión posterior de las vértebras lumbosacras
Braquidactilia tipo d
Ausencia de antebrazo
Disminución del diámetro anterioposterior de los cuerpos vertebrales lumbares
Articulaciones de la mano hiperextensibles
Segmentación y fusión vertebral anormal
Tercer dedo del pie corto
Calcificación de disco intervertebral
Hipoplasia cubital bilateral
Sindactilia cutánea entre los dedos 2 y 5 de la mano
Esclerosis cortical
Osteoporosis generalizada moderada
Exostosis múltiples de dedos de la mano
Deformidad posicional del pie
Cifoescoliosis torácica
Osteomielitis por salmonella
Masivo engrosamiento de las corticales de huesos largos
Os odontoideum
Calcificaciones intracraneales bilaterales
Polidactilia postaxial rudimentaria de las manos
Luxación anterior atlanto-occipital
Contractura de Dupuytren
Vertebrales lumbares con deformidades en lengüeta
Artritis reumatoide juvenil
Sinostosis talocalcánea
Artrogriposis distal
Osteosclerosis en parches
Cabezas humerales deformadas
Falanges distales del pulgar displásicas con un orificio central
Crestas dermatoglíficas anormales
Hiperflexibilidad articular
Fusión parcial de la fila proximal de los huesos del carpo
Polidactilia postaxial tipo A
Aumento de la densidad ósea con cambios quísticos
Encondromatosis múltiple
Pulgares trifalángicos bilaterales
Sindactilia cutánea de dedos 2-3 del pie
Epífisis de la rodilla aplanadas
Displasia esquelética letal
Acortamiento de los metacarpianos
Pulgar hiperextensible
Silla turca en forma de zapato
Pulgar trifalángico no oponible
Pulgares hipoplásicos con almohadillas bulbosas
Irregularidad cortical
Estenosis espinal con  reducción de la distancia interpedicular
Tibia corta
Subluxación posterior de la cabeza radial
Necrosis avascular de la epífisis capital femoral
Osteoporosis generalizada con fracturas patológicas
Contracturas congénitas del pie
Osteosclerosis de la base del cráneo
Primera articulación metacarpofalángica fácilmente luxable
Contracturas de las articulaciones de los miembros inferiores
Vértebras moderadamente deformadas y aplanadas
Punteado epifisiario neonatal
Impresión basilar
Fosa posterior pequeña y plana
Artritis poliarticular
Meningocele sacro
Acortamiento desproporcionado de la tibia
Sindactilia completa de dedos 1-2 del pie
Sindactilia cutánea de dedos 2-4 del pie
Clinodactilia de la falange distal del quinto dedo de la mano
Aplasia
hipoplasia de la tibia
Antebrazo corto
Anomalías esqueléticas múltiples
Malsegmentation de huesos carpianos
Ausencia del pliegue distal interfalángico del cuarto dedo de la mano
Contracturas de las grandes articulaciones
Platispondilia lumbar
Mielograma cervical anormal
Osteosclerosis generalizada
Cóndilos mandibulares cortos
Engrosamiento cortical de diáfisis de huesos largos
Húmero corto
Acortamiento de todas las falanges distales de los dedos de los pies
Enfermedad arterial de miembros inferiores
Luxación posterior de la cabeza radial
Coalescencia de los huesos del tarso
Falanges distales ausentes
Costillas supernumerarias
Polisindactilia postaxial de pie
Acortamiento de la falange media del dedo de la mano
Anomalías de las costillas superiores
Clinodactilia del segundo dedo del pie
Esclerosis mixta de la metáfisis humeral
Infiltrados pulmonares transitorios
Trastornos del desarrollo de la articulación radio-cubital
Contractura en flexión de los dedos del pie
Braquidactilia tipo B
Edad ósea retrasada disarmónica
Inflamación articular inicio en la infancia tardía
Calcificación punteada del esqueleto cartilaginoso infantil
Falange media redondeada de dedo de la mano
Pulgar bífido en la falange distal
Calcificaciones difusas cerebrales
Pie equino calcaneovalgo congénito
Limitación en la extensión  y supinación del codo
Contracturas congénitas con deformidades del pie
Fracturas prenatales múltiples
Luxación cubital de la cabeza del radio
Espina bífida a nivel cervical
Braquidactilia tipo E
Pseudoartrosis
Pulgar oponible trifalángico
Metacarpianos cuarto y quinto fusionados
Encondromatosis metafisaria
Condrodisplasia metafisaria
Braquitelomesofalangia
Polisindactilia de dedo gordo del pie
Aumento de verticilos dermatoglíficos
Contracturas en flexión progresivas
Fracturas vertebrales multiples pequeñas
Aumento del diámetro sagital del canal cervical
Contracturas congénitas en flexión del dedo de la mano
Sinostosis metacarpofalángica
Inestabilidad espinal
Variantes dermatoglíficas
Ausencia de osificación de los cuerpos vertebrales cervicales
Afalangia de las manos
Hiperostosis craneal interna
Encurvamiento progresivo del antebrazo
Fusión tibial y peroneal proximal
Duplicación del primer metacarpiano
Desviación radial de falange distal del pulgar
Osteoporosis severa
Disostosis metafisaria
Quinto metacarpiano con escotadura cubital
Osteomielitis multifocal crónica recurrente
Curvatura cervical anormal
Retraso en la neumatización diferida de la apófisis mastoides
Falange media del quinto dedo de la mano con forma romboidal o triangular
Atresia biliar
Anomalía de las epífisis de los metacarpianos
Aplasia
hipoplasia de a los huesos metacarpianos
Morfología anormal de los metacarpianos
Huesos metacarpianos supernumerarios
Anomalía de las falanges de los dedos de la mano
Anomalía de las epífisis de las falanges de la mano
Osificación anormal de huesos de la mano
Morfología anormal de la mano
Anomalías de las metáfisis de la mano
Anomalía de la epífisis de la mano
Anomalías de las diáfisis de la mano
Anomalías de la corteza de los huesos de la mano
Aplasia
hipoplasia de los huesos de la mano
Sinostosis comprometiendo el peroné
Sinostosis comprometiendo la tibia
Anomalía de la epífisis
Anormalidad en la diferenciación córtico-medular renal
Alteración de la aducción de la cuerda vocal
Alteración de la morfología de los cilios móviles respiratorios
Múltiples neumotórax bilaterales
Hiperpnea intermitente en reposo
Neumonitis intersticial descamativa
Paro respiratorio
Agenesia pulmonar bilateral
Obstrucción de la laringe
Dependencia absoluta de respiración mecánica
Disminución de la sensibilidad a la hipoxemia
Enfermedad pulmonar quística
Episodios de apnea en la infancia
Membrana  laríngea
Estridor inspiratorio progresivo
Disminución de la función pulmonar
Hemangiomatosis capilar pulmonar
Acortamiento anteroposterior de la laringe
Disregulación de la respiración
Gluconeogénesis alterada
Hipoargininemia
Hipotermia intermitente
Acidosis respiratoria y metabólica mixta
Inestabilidad en la temperatura
Acidosis respiratoria
Intolerancia a la fructosa
Cetoacidosis episódica
Acidosis metabólica hipercalémica
Alcalosis metabólica hipoclorémica
Diabetes mellitus de Tipo II
Cetoacidosis metabólica
Actividad reducida de fenilalanina hidroxilasa
Alfa-fetoproteína en suero materno elevada
Limitación del movimiento del cuello
Bocio multinodular
Tortícolis muscular congénita
Piel del cuello redundante
Hipoplasia tiroidea
Limitación de la flexión del cuello
Bocio nodular
Disminución del tejido adiposo alrededor del cuello
Movimiento del cuello restringido debido a contracturas
Atresia ureteral
Obstrucción ureteral
Hipotrofia de los pequeños músculos de la mano
Braquidactilia unilateral
Falange ancha
Metacarpianos cuboidales
Ensanchamiento del eje metacarpiano
Huesos del carpo de forma anormal
Retraso en la osificación de las epífisis
Reducción del espacio articular interfalángico proximal
Epífisis redondeadas
Metáfisis de los metacarpianos en forma de copa
Epífisis en forma de cono de falanges 2-5 de la mano
Segundo metacarpiano largo
Metacarpianos en forma de Y
Falanges puntiagudas cortas
Ensanchamiento distal de los metacarpianos
Engrosamiento perióstico metacarpiano
Desviación cubital de las manos
Epífisis de metacarpianos en forma de cono
Falanges proximales en forma de lápida
Limitación del movimiento de articulación interfalángica
Múltiples centros de osificación del carpo
Retraso severo en la osificación del carpo
Contractura de la articulación metacarpofalángica
Ausencia de pliegues de flexión proximales de los dedos de la mano
Adelgazamiento cortical en metacarpianos
Sindactilia cutánea completa de dedos 1-5 de la mano
Hiperhidrosis palmar
Malalineación de los huesos del carpo
Hiperlaxitud articular de dedo de la mano
Ensanchamiento de los penachos de las falanges distales
Sindactilia de dedos 3-4 de la mano
Hiperextensibilidad articulación metacarpofalángica
Sindactilia de dedo de la mano
Ausencia de hueso trapezoide
Telangiectasias en las puntas de los dedos
Metacarpianos cónicos
Ausencia de pliegues interfalángicos
Acortamiento de todas las falanges medias de los dedos de la manos
Falanges agrandadas con cavidades medulares ensanchadas
Pliegues palmares múltiples
Acortamiento de todas las falanges distales de los dedos de la manos
Estrechamiento proximal de los metacarpianos
Ulceración Acral que lleva a autoamputación de dígitos
Falange proximal del dedo  de la mano largo
Falanges terminales en palillo de tambor
Epífisis de los metacarpianos agrandadas
Disminución de la movilidad de los dedos de la mano
Polidactilia postaxial bilateral
Fusión prematura de la epífisis de las falanges
Pliegues de flexión de los dedos de la mano anormales
Acortamiento de todas las falanges proximales de los dedos de la manos
Metacarpiano central en forma de Y
Epífisis metacarpianos anchas
Fusión progresiva de articulaciones interfalángicas proximales segunda-quinta
Aumento de la laxitud de los dedos de la mano
Deformidades de los dedos de la mano en cuello de cisne
Sinfalangismo proximal
Desorganización los huesos del carpo
Falange del dedo de la mano largo
Desviación cubital del pulgar
Pliegues de flexión palmar prominente
Polidactilia en mano mesoaxial
Metacarpianos irregulares
Metacarpianos cortos con extremos proximales redondeados
Inflamación del tejido blando de las articulaciones interfalángicas
Articulaciones metacarpofalángicas agrandadas
Acortamiento proporcional de todos los dedos de la mano
Huesos metacarpianos tubulares
Articulaciones interfalángicas proximales prominentes
Disminución de la movilidad de los dedos tercero a quinto de la mano
Falanges distales en forma de peón de ajedrez
Epífisis aplanadas de los huesos tubulares
Esclerosis endosteal diáfisis metacarpiana
Engrosamiento perióstico de la falange proximal
Dos centros de osificación del carpo congénitos
Pseudoepífisis de segundo metacarpiano
Huesos del carpo apiñados
Disminución de pliegues palmares
Articulaciones interfalángicas proximales agrandadas
Fusión de articulaciones medias de las falanges
Pliegues interdigitales prominentes
Muñecas desviadas radialmente
Pliegue palmar profundo
Falange de la mano cónica
Falanges medias de la mano en forma de dedal
Falanges distales ensanchadas
Hipermovilidad de las articulaciones interfalángicas distales de la mano
Osteólisis del escafoides
Disminución del rango de movimiento en las articulaciones interfalángicas
Falanges irregulares
Hipersegmentación de la falange proximal del segundo dedo de la mano
Fusión parcial del carpo
Metáfisis de las falanges proximales en forma de copa
Ausencia parcial-completa de falanges de los quintos dedos de la mano y el pie
Oligodactilia postaxial
Falanges proximales delgadas con epífisis anchas
Pliegue interfalángico único del quinto dedo
Movilidad limitada de la articulación interfalángica proximal
Falanges distales cónicas  de la mano
Osteoartritis de la primera articulación carpometacarpiana
Mano con deformidad en valgo
Oligodactilia unilateral
Metacarpianos agrandados con cavidades medulares ensanchadas
Osteoartritis de la articulación interfalángica distal
Osteólisis comprometiendo huesos del tarso
Metacarpianos delgados
Articulaciones interfalángicas prominentes
Acortamiento de todas las falanges medias de los dedos de los pies
Luxaciones de las falanges
Articulaciones interfalángicas agrandadas
Limitación en el movimiento de la muñeca
Limitación en la extensión de la muñeca
Erosiones articulares interfalángicas
Inflamación de articulaciones interfalángicas proximales
Alfafetoproteína elevada
Anomalía de la movilidad articular de la mano
Anomalía de osificación de los huesos carpianos
Anomalía de las articulaciones de las falanges de la mano
Aplasia
hipoplasia del quinto dedo de la mano
Anomalía de las epífisis del segundo dedo de la mano
Aplasia
hipoplasia del segundo dedo de la mano
Aplasia
hipoplasia de los dedos de las manos
Placenta pequeña
Placenta grande
Esplenomegalia recurrente
Bazo hipoplásico
Linfangiectasias pancreático
Reducción de las células beta pancreáticas
Páncreas hiperecogénico
Hiperplasia pancreática
Tejido pancreático ectópico
Disfunción de las células beta
Pancreatitis crónica
Hipoplasia generalizada del esmalte dental
Múltiples dientes no erupcionados
Hipomineralización del esmalte dental
Decoloración amarillo-marrón de los dientes
Erupción dental acelerada
Agenesia del incisivo central
Incisivos laterales descoloridos
Retraso marcado en la erupción de los dientes permanentes
Anomalía de la erupción dental
Agenesia del incisivo central superior
Hipoplasia del esmalte dental
Sangrado prolongado tras extracción dental
Calcificaciones en forma de daga de la pulpa dentaria
Incisivos separados
Atrofia de rebordes alveolares
Microdoncia generalizada
Dientes primarios ampliamente separadas
Incisivo superior medial único
Dientes espaciados irregularmente
Múltiples dientes secundarios no erupcionados
Pérdida prematura de los dientes de leche
Dientes enterrados encajonados en mucopolisacáridos
Hipoplasia del proceso alveolar
Incisivos superiores centrales rotados
Incisivo maxilar supernumerario
Apiñamiento de incisivos superiores
Hipoplasia de los dientes primarios
Persistencia de los dientes primarios
Raíces dentales cortas
Erupción prematura de los dientes permanentes
Malformación del premolar mandibular
Incisivo inferior  cónico
Incisivos laterales superiores en forma de estaca
Anomalía de la morfología molar
Incisivos en forma de destornillador
Microdoncia de los dientes primarios
Agenesia de los dientes permanentes
Obliteración de la cámara de la pulpa dental
Ausencia de erupción de los dientes permanentes
Hipoplasia del germen del diente
Agenesia del incisivo central mandibular
Pérdida prematura de los dientes permanentes
Incisivos centrales superiores en forma de pala
Epífisis femoral irregulares
Deformidad en varo del cuello humeral
Contracturas del músculo aductor largo
Huesos largos arrugados
Defectos por reducción del antebrazo
Rótula irregular
Punteado epífisario distal del cubito
Diáfisis de huesos largos anchos
Fémur en forma de mancuernas
Limitación en la flexión del codo
Osteólisis de rótulas
Hipoplasia tibial proximal
Contractura en flexión de la rodilla
Peroné rudimentario
Encurvamiento progresivo de los huesos largos
Fémur distal en forma de palo de golf
Miembros inferiores cortos
Epífisis distal del radio hipoplásicos
Ensanchamiento de la metáfisis femoral distal
Limitación en la flexión de la rodilla
Arqueamiento tibial anterior
Huesos largos sobremodelados
Aumento de la densidad de los huesos largos
Limitación en al prono-supinación del antebrazo
Desplazamiento lateral de la rótula
Epífisis femoral distal plana
Ausencia de epífisis de la rodilla
Acortamiento distal de las extremidades
Fémur proximal en forma de palo de golf
Epífisis femoral distal irregular
Entrechamiento distal del fémur
Encurvamiento progresivo de la pierna
Metáfisis tibial ancha
Incurvación tibial distal
Huesos tubulares largos con hiperdensidad de la cortical
Metáfisis femorales anchas
Displasia radial asimétrica
Prominencia central de las metáfisis tibiales distales
Radio alargado
Tibia rudimentaria o ausente
Cuello femoral ancho
Anomalías metafisaria de fémur distal y proximal
Cóndilos femorales distales en forma trapezoide
Radios displásicos
Hipoplasia del radio proximal
Acortamiento de la tibia
Protusión desproporcionada del cóndilo femoral medial
Agrandamiento de la epífisis femoral distal
Luxación radiocubital
Aumento de la densidad de diáfisis de huesos largos
Aplasia del cóndilo lateral del húmero
Hipoplasia del peroné proximal
Aplasia rotuliana - patelar
Rótula displásica
Osteólisis distal de la epífisis radial
Osificación multicéntrica de las epífisis femorales proximales
Desplazamiento lateral de la cabeza femoral
Retraso en la osificación de la rótula
Epífisis irregulares tibiales proximales
Subluxación dorsal del cúbito
Aumento de la laxitud de los tobillos
Epifisiolisis femoral proximal
Desmineralización ósea generalizada
Raquitismo de los miembros inferiores
Engrosamiento del periostio de los huesos tubulares largos
Contractura del tobillo
Limitación en el movimiento del hombro
Diáfisis de huesos largos delgados
Codo fijo en flexión
Incurvación anterior de los huesos largos
Anormalidad de las células de los islotes pancreáticos
Anomalía de los rebordes alveolares
Anomalía de la pulpa dental
Pérdida prematura de los dientes
Anomalía de los dientes primarios
Anomalía de la morfología dental
Número anómalo de los dientes
Agenesia del incisivo
Anomalía de la raíz dental
Arqueamiento o incurvación de los huesos largos
Arqueamiento o incurvación del brazo
Anomalía de la metáfisis femoral
Anomalía de metáfisis de miembros inferiores
Anomalía de la metáfisis tibial
Aplasia
hipoplasia del peroné
Aplasia
hipoplasia de los huesos de los miembros inferiores
Aplasia
hipoplasia de los huesos de los pies
Aplasia
hipoplasia del cúbito
Aplasia
hipoplasia de los huesos de las extremidades superiores
Aplasia
hipoplasia de la rótula
Anomalía de las epífisis femorales
Anomalía involucrando las epífisis de los miembros inferiores
Aplasia
hipoplasia del radio
Aplasia
hipoplasia de los huesos del carpo
Aplasia
hipoplasia de los huesos del antebrazo
Anomalía de las diáfisis de las extremidades
Anomalía de las epífisis de las extremidades
Aplasia
hipoplasia del húmero
Anomalía de las epífisis tibiales
Diverticulosis de la tráquea
Enfermedad pulmonar obstructiva crónica
Estridor laríngeo
Calcificaciones nodulares intraalveolar
Neumonitis intersticial
Neumonitis por hipersensibilidad
Proteinosis alveolar
Enfermedad veno-oclusiva pulmonar
Carcinoma de células alveolares
Deterioro progresivo de la función pulmonar
Linfangiectasia pulmonar
Neumotórax a repetición
Leiomiomatosis traqueobronquial
Defectos de la segmentación pulmonar
Neumonía intersticial linfoide
Enfermedad pulmonar crónica
Alteración de los conductos linfáticos pulmonares
Enfermedad pulmonar intersticial
Linfangiectasia pleural
Neumonía recurrente
Broncodisplasia
Hemorragia intrapulmonar recurrente
Enfermedad pulmonar obstructiva
Infecciones broncopulmonares recurrentes
Hipoplasia del cartílago bronquial
Enfermedad pulmonar obstructiva crónica congénita
Parada cardiorrespiratoria
Secuestro extrapulmonar
Malformación arteriovenosa pulmonar
Disgenesia pulmonar primaria unilateral
Enfermedad pulmonar fibroquística
Insuficiencia hepática aguda
Esteatosis hepática difusa
Enfermedad hepática poliquística
Disminución de la actividad mitocondrial del complejo iii en el tejido hepático
Calcificación hepática
Hiperplasia biliar
Acumulación de lípidos en los hepatocitos
Hepatitis viral
Malformación de la placa ductal hepática
Hepatomegalia recurrente
Hígado graso
Enfermedad hepática colestásica neonatal
Aumento del contenido de glucógeno hepático
Reducción del número de conductos biliares intrahepáticos
Hepatitis viral progresiva subaguda
Esteatosis hepática aguda
Malformación arteriovenosa hepática
Colestasis intrahepática con ictericia episódica
Malformaciones vasculares hepáticas
Cirrosis macronodular
Ictericia neonatal prolongada
Fibrosis portal
Depleción del adn mitocondrial en el hígado
Episodios similares al sindrome de Reye
Insuficiencia hepática grave infantil
Escápula pequeña de forma anormal
Pseudoartrosis congénita de la clavícula
Clavículas rectas
Tórax inferior en forma de campana
Sinostosis esternal prematura
Fosa glenoidea ausente
Inserción anómala de las costillas en las vértebras
Sinostosis escapulohumeral
Movimiento restringido del tórax
Parálisis diafragmática
Osificación irregular en los extremos anteriores de las costillas
Ensanchamiento medial de las clavículas
Calcificación progresiva del cartílago costocondral
Extremos de las costillas irregulares en forma de campana
Uniones condrocostales irregulares
Osificación costocondral precoz
Hipoplasia clavicular
Distancia intermamilar aumentada
Disminución del número de centros de osificación esternal
Ausencia intraútero de osificación de los huesos torácicos
Calcificaciones puntiformes anteriores en las costillas
Esclerosis de la articulación costocondral
Carcinoma de mama multifocal
Ausencia de osificación esternal
Hipoplasia de los segmentos distales de la escápula
Hipoplasia de la fosa glenoidea
Osteosclerosis costal
Calcificaciones puntiformes en esternón
Aplasia clavicular
Fracturas costales múltiples
Costillas flotantes prominentes
Centros de osificación esternal grandes
Fusión de los centros de osificación esternales
Displasia torácica
Clavículas delgadas
Calcificación del cartílago costal
Microtorax congénito
Dolor costocondral
Engrosamiento del borde lateral de la escápula
Anomalías de segmentación costal
Hipoplasia de la primera costilla
Hombros con rotación interna
Aplasia de clavícula
Costillas en forma de percha
Hipoplasia de la duodécima costilla
Deterioro de la contractilidad miocárdica
Taquicardia auricular paroxística
Función sistólica reducida
Complejo QRS prolongado
Arteritis coronaria granulomatosa
Nodo auriculoventricular ausente
Extrasístoles ventriculares
Llenado ventricular anormal
Preexcitación ventricular con múltiples vías accesorias
Fibrosis endocárdica
Tortuosidad aórtica
Taquicardia paroxística
Endocarditis bacteriana
Calcificación de miocardio
Mixoma válvula pulmonar
Cuerdas tendinosas cortas de la válvula tricúspide
Esteatosis miocárdica
Enfermedad valvular cardíaca progresiva con calcificación temprana
Defecto del canal atrioventricular
Extrasístoles ventriculares polimórficas y politópicas
Aneurisma ventricular
Ritmos supraventriculares ectópicos
Disección coronaria espontánea
Aplasia
hipoplasia de los pulmones
Anomalía de las arterias coronarias
Anomalía de las válvulas auriculoventriculares
Enfermedad hepática quística
Anormalidad de la vascularización hepática
Aplasia
hipoplasia de los pezones
Aplasia
hipoplasia de las clavículas
Aplasia
hipoplasia de los huesos del tórax
Aplasia
hipoplasia de las costillas
Aplasia
hipoplasia de las escápulas
Aplasia
hipoplasia del esternón
Paraganglioma del glomo timpánico
Carcinoma colorrectal sin poliposis hereditaria
Neuroepitelioma periférico
Tumores del tracto gastrointestinal benignos
Leucemia linfática aguda
Carcinoide de intestino delgado
Carcinoide intestinal
Adenocarcinoma de páncreas
Leucemia linfoblástica aguda de células T
Quemodectomas retroperitoneales
Carcinoma folicular de tiroides
Carcinoma papilar de células renales de tipo 2
Leucemia megacariocítica aguda
Adenoma renal cortical
Feocromocitoma extra adrenal
Carcinoma de células escamosas de la piel
Carcinoma de células transicionales de la vejiga
Neuroblastoma congénito
Rabdomiosarcoma embrionario
Carcinoma adrenocortical
Ganglioneuroblastoma
Feocromocitoma adrenal
Tumores malignos del tracto gastrointestinal
Neurofibromas paravertebrales
Neoplasia del estómago
Leiomiosarcoma cutáneo
Leiomiomatosis difusa
Tumor maligno del tracto genitourinario
Carcinoma de la pelvis renal
Carcinoma epidermoide del canal anal
Condrosarcoma
Carcinoma papilar de células renales
Adenoma hipofisario de células secretoras de prolactina
Neuroblastoma localizado
Tumores subcutáneos mixoides
Carcinoma de células claras renales
Carcinoma duodenal
Angiomiolipoma renal
Angiolipomas cutáneos
Adenocarcinoma papilar de ovario
Mieloma múltiple
Neoplasia benigna del tracto genitourinario
Rabdomiosarcoma alveolar
Carcinoma de paratiroides
Adenoma tiroideo de células Hurthle
Proliferación maligna de eosinófilos
Hendidura de faringe posterior
Hipoplasia de senos paranasales
Distrofia muscular de cinturas
Encefalopatía mitocondrial
Corteza cerebral con cambios espongiformes
Pérdida de la capacidad para caminar en la primera década
Quistes de los ganglios basales
Reflejos tendinosos profundos hiperactivos
Alteración de las células del cuerno anterior de la médula espinal
Alucinaciones vívidas
Hipomielinización cerebral
Anomalías de la sustancia blanca de la región periventricular posterior
Convulsiones hemiclónicas
Aplasia
hipoplasia del vermis cerebeloso
Lisencefalia tipo i
Polimicrogiria de gradiente antero posterior
Parálisis del nervio craneal
Palidez de las columnas dorsales de la médula espinal
Atrofia de la médula espinal
Hipotonía muscular severa
Hipotonía neonatal severa en varones
Estancamiento del desarrollo al inicio de cuadro convulsivo
Síndrome de Horner congénito
Ausencia del reflejo rotuliano
Encefalopatía aguda
Hipodisplasia del cuerpo calloso
Hipoplasia de la protuberancia ventral
Neurofibromas radiculares simétricos de nervios espinales
Hipotonía generalizada episódica
Atrofia del vermis cerebeloso
Deterioro o pérdida de la propiocepción distal
Leucoencefalopatía posterior
Retraso en el lenguaje expresivo grave
Polineuropatía sensoriomotora que afecta los brazos más que las piernas
Lipomas en la línea media del sistema nervioso central
Holoprosencefalia lobar
Hipoplasia cerebral
Desmielinización periférica simétrica progresiva
Atrofia pontocerebelosa
Hemangioblastoma del cerebelo
Desmielinización periférica difusa
Hidrocefalia severa
Disminución de la sensación de vibración distal
Discapacidad intelectual progresiva
Meningoencefalocele
Discapacidad intelectual, en el límite
Corteza cerebral engrosada
Atrofia cerebral frontotemporal
Displasia cerebelosa severa
Lóbulos olfativos hipoplásicos
Hipertonía de extremidades inferiores
Alucinaciones hipnopómpicas
Parálisis del vi par craneal o abducente
Fusión de los hemisferios cerebelosos
Sensibilidad térmica alterada
Neuropatía periférica congénita
Degeneración espinocerebelosa de inicio tardío
Calcificación intracerebral congénita
Atrofia de la corteza frontal
Incapacidad para caminar en la infancia
adolescencia
Acumulación de material de almacenamiento intraaxonal lipopigmento autofluorescente curvilínea
Esclerosis cerebral difusa
Comportamiento anormal agresivo, impulsivo o violento
Rigidez muscular axial
Variante de leucodistrofia metacromática
Polimicrogiria unilateral
Encefalopatía hipoglicémica
Displasia cortical frontoparietal
Lipoma del cuerpo calloso
Episodios psicóticos transitorios
Nistagmo congénito
Disminución de la sensación táctil distal
Deterioro de la sensación vibratoria en tobillos
Leucoencefalopatía espongiforme difusa
Abolición de la sensación de vibración
Meningitis recurrente
Neuropatía periférica episódica
Quiste retrocerebelar
Hipoplasia olivopontocerebelosa
Dilatación de los ventrículos laterales
Pérdida de la capacidad para caminar
Potenciales auditivos evocados anormales
Atrofia muscular espinal proximal
Calcificación del plexo coroideo
Movimientos espasmódicos de la cabeza
Inestabilidad en la marcha, empeora en la oscuridad
Neurodegeneración de la corteza cerebral
Encefalopatía necrotizante aguda
Leucomalacia periventricular
Encefalopatía necrotizante
Trastorno específico del lenguaje con problemas en la gramática
Leucodistrofia desmielinizante
Alteraciones del ciclo sueño-vigilia
Leucoencefalopatía progresiva
Tetraparesia espástica lentamente progresiva
Pérdida sensitiva distal que incluye todas las modalidades
Espasticidad de los miembros superiores
Holoprosencefalia alobar
Cuerpo calloso displásico
Gliosis dependiente de mielina
Encefalocele basal anterior
Leucoencefalopatía difusa
Gliosis de los ganglios basales
Espasmos mioclónicos matutinos
Pérdida de células de Purkinje del vermis cerebeloso
Neuropatía axonal motora
Degeneración de la columna dorsal
Cavitación de ganglios basales
Degeneración del sistema nervioso central
Pobre coordinación motora fina
Parálisis del iv par craneal o nervio troclear
Pobre coordinación motora gruesa
Hipoplasia del tracto corticoespinal
Pérdida de memoria progresiva
Trastorno de hiperactividad y déficit de atención
Paraplejia espástica progresiva
Insensibilidad al dolor
Hemorragia intracerebral prenatal
Parálisis seudobulbar
Metencefalo pobremente formado
Aneurisma cerebral sacular o en forma de baya
Encefalopatía no progresiva
Displasia del cerebelo
Hiperreflexia global
Encefalocele anterior
Hipoplasia del tracto olfatorio
Lesiones simétricas de los ganglios basales
Meningitis linfocítica crónica
Lesiones focales de la sustancia blanca
Calcificaciones en la línea media del cerebro
Atrofia del núcleo dentado
Ganglios basales agrandados
Alteraciones multifocales de la sustancia blanca cerebral
Hiperreflexia proximal
Pobre coordinación mano-ojo
Atrofia
hipoplasia generalizada cerebral
Aplasia de la mitad inferior del vermis cerebeloso
Deterioro progresivo del lenguaje
Desorganización del vermis cerebeloso anterior
Rigidez muscular proximal de las extremidades
Neuropatía sensitiva periférica distal
Hipoplasia del vermis inferior
Encefalopatía estática profunda
Cuerpo calloso engrosado
Rigidez muscular extrapiramidal
Disminución en la amplitud de los potenciales de acción sensitivos
Distrofia muscular de inicio tardío
Dilatación del tercer ventrículo
Reflejo patelar hiperactivo
Deterioro social y laboral
Movimientos espasmódicos involuntarios
Fasciculaciones facio-linguales
Polimicrogiria frontoparietal
Hipoplasia del tracto óptico
Pérdida de la función motora de un par craneal
Coreoatetosis paroxística
Malformación Arnold-Chiari tipo i
Ventrículomegalia progresiva
Hipointensidad de la sustancia blanca cerebral en la resonancia magnética nuclear
Potenciales evocados omatosensoriales prolongados
Encefalopatía infantil
Desmielinización segmentaria periférica
Neuropatía periférica desmielinizante
Quistes periventriculares
Hipoventilación central
Encefalopatía hepática crónica
Atrofia cortical temporal
Encefalocele de la órbita
Atrofia del tracto corticoespinal
Demencia subcortical
Amiotrofia proximal
Meduloblastoma cerebeloso
Polineuropatía desmielinizante aguda
Degeneración del globo pálido
Neuropatía periférica progresiva
Neuropatía sensoriomotora
Lesiones bilaterales de los ganglios basales
Amiotrofia distal de las extremidades superiores
Trastorno de movimiento extrapiramidal progresivo
Rigidez muscular de miembro asimétrica
Rigidez muscular extrapiramidal progresiva
Fluctuaciones en la conciencia
Desmielinización difusa de la sustancia blanca cerebral
Lenguaje lento con habla arrastrada
Heterotopia periventricular de la sustancia gris
Disquinesia paroxística
Polineuropatía motora
Ausencia de seguimiento ocular lento
Atrofia del músculo interóseo
Hipomielinización periférica
Lesión focal hiperintensa en t2 de los ganglios basales
Pérdida del conocimiento
Lisencefalia focal
Diplegía facial congénita
Pérdida de neuronas en la corteza cerebral
Convulsiones tónico-clónicas generalizadas al despertar
Paraparesia espástica progresiva
Hiperinsomnia episódica
Aterosclerosis de la arteria cerebral
Anomalías difusas de la sustancia blanca cerebral
Hemimegalencefalia
Crisis convulsivas tónico-clónicas fotosensibles
Bucles irregulares y plegamientos focales de la vaina de mielina
Parálisis facial
Amiotrofia de miembro inferior
Parálisis periódica hiperpotasemia
Neuropatía motora desmielinizante
Ataxia truncal progresiva
Macrogiria
Calcificaciones periventriculares intracerebrales
Disminución en el potencial de acción sensitivo del nervio a nivel distal
Enfermedad del tracto espinocerebeloso de miembros inferiores
Regeneración axonal en racimos
Infartos subcorticales recurrentes
Calcificación cerebral no arteriosclerótica
Encefalopatía congénita
Ataxia de la marcha progresiva
Disminución en el número de fibras nerviosas mielinizadas periféricas pequeñas
Oftalmoplejia externa recurrente
Alteración en la función motora piramidal
Desmielinización severa de sustancia blanca
Lisencefalia tipo ii
Desmielinización periférica simétrica
Atrofia espinocerebelosa
Ausencia de mesencéfalo
Desmielinización cerebral
Neuropatía axonal crónica
Aprosencefalia
Atrofia muscular espinal
Crisis de ausencia atípicas
Mielomeningocele occipital
Deterioro psicomotor progresivo
Meningitis bacteriana recurrente
Disminución de neuronas motoras del asta anterior
Atrofia muscular espinal infantil aguda
Estancamiento del desarrollo
Parálisis facial secundaria a hiperostosis craneal
Nistagmo horizontal espasmódico
Fasciculaciones en las extremidades
Quiste de fosa posterior
Meningocele sacro anterior
Movimientos oculares rápidos conjugados caóticos
Disfunción del tracto corticoespinal lateral
Apraxia oromotora
Trastorno afectivo bipolar
Desmielinización del sistema nervioso central
Deterioro neurológico rápido
Disquinesia extrapiramidal
Marcha parkinsoniana
Degeneración cerebral
Heterotopía de sustancia blanca
Movimientos involuntarios de torsión
Hipodensidades de la sustancia blanca profunda
Distonía generalizada
Coreoatetosis progresiva
Polineuropatía desmielinizante y axonal combinada
Disminución en la sensación de dolor
Encefalocele frontal
Convulsiones hemifaciales
Hipoplasia de los lóbulos frontales
Crisis convulsivas bilaterales
Encefalopatía recurrente
Movimientos sacádicos hipermétricos
Debilidad muscular de miembro inferior
Edema difuso de la sustancia blanca cerebral
Malformaciones límbicas
Atrofia
degeneración de la médula espinal
Calcificaciones subcorticales de la sustancia blanca
Hipoplasia del tracto piramidal
Hiperreflexia de miembros superiores
Temblor postural de miembros superiores
Calcificaciones cerebelosas
Esclerosis lateral amiotrófica
Convulsiones focales
Aplasia
hipoplasia del cerebelo
Anomalía del de la protuberancia o puente cerebral
Aplasia
hipoplasia del tallo cerebral
Aplasia
hipoplasia del tracto piramidal
Aplasia
hipoplasia del cerebro
Aplasia
hipoplasia de los tractos corticoespinales
Atrofia
degeneración del tallo cerebral
Atrofia
degeneración del sistema nervioso central
Atrofia
degeneración del cerebro
Aplasia
hipoplasia del cuerpo calloso
Atrofia del cuerpo calloso
Atrofia
degeneración de tractos corticoespinales
Atrofia
degeneración de motoneuronas
Atrofia
degeneración del núcleo caudado
Anomalía del septum pellucidum o septo pelúcido
Anomalía del plexo coroideo
Alteración en potenciales evocados somatosensoriales
Neoplasia del tracto gastrointestinal
Neoplasia del tracto genitourinario
Telangiectasia facial
Eritrodermia exfoliativa congénita
Ausencia localizada de la piel congénita
Maduración de los melanosomas aberrante
Aplasia cutis congénita del cuero cabelludo
Hipoplasia de glándulas sudoríparas
Hiperqueratosis con eritema
Exceso de piel arrugada
Vasos sanguíneos superficiales prominentes
Eritroderma ictiosiforme de aparición postnatal
Fotosensibilidad cutánea temprana
Hipoplasia axilar glándular apocrina
Defectos de la piel asimétricos, lineales
Hiperpigmentación irregular
Atrofia macular no inflamatoria
Áreas de hipopigmentación e hiperpigmentación que no siguen líneas blaschko
Hipertrofia de la piel de las plantas de los pies
Queratoderma palmoplantar no epidermolítico
Hiperpigmentación de párpados
Arrugas en la piel excesivas en el dorso de las manos y los dedos
Susceptibilidad a leishmaniasis tegumentaria
Ausencia de grasa subcutánea en todo el cuerpo excepto en las nalgas, caderas y muslos
Hiperhidrosis palmoplantar
Hipoplasia o ausencia de glándulas sebáceas
Dermopatía hiperpigmentada macular
Nevus flammeus de la frente
Piel arrugada de manos y pies neonatal
Lupus eritematoso discoide
Alopecia totalis
Hematomas espontáneos
Telangiectasias de las mejillas
Piel de la cara hiperelástica
Pigmentación de la piel reticulada
Telangiectasia de la mucosa oral
Manchas de color café con leche escasas
Edema generalizado
Eritrodermia congénita ictiosiforme
Erupción papular eritematoso generalizada intermitente
Hemangioma facial en forma de placa
Queratodermia palmoplantar difusa
Displasia ectodérmica pelo-uñas
Leiomiomas cutáneos múltiples
Pigmentación moteada del tronco y extremidades proximales
Folicular queratosis generalizadas
Hiperpigmentación generalizada
Máculas hiperpigmentadas
hipopigmentadas
Albinismo parcial
Ampollas palmoplantares
Hiperqueratosis palmoplantar difusa
Hiperqueratosis sobre áreas edematosas
Máculas hipopigmentadas en confeti
Hiperpigmentación de la ingle con depigmentación en gota de lluvia
Ausencia de sudoración facial ipsilateral
Hemangioma capilar del tercio medio de la cara
Liquenificación en zonas de flexión
Adermatoglifia
Hiperpigmentación reticulada progresiva
Venas prominentes en el tronco
Piel hiperextensible focal
Anhidrosis generalizada
Autoamputación de dígitos de la mano
Hemangiomatosis
Manchas de Bitot de la conjuntiva
Vello facial escaso
Queratodermia palmoplantar en panal de abeja
Hemangioma capilar del medio de la frente
Hiperqueratosis perifolicular
Cutis girata palmoplantar
Nódulos subcutáneos periarticulares
Hiperpigmentación e hipopigmentación axilar y de la ingle
Dermatitis eritematosa costrosa
Eritrodermia congénita ictiosiforme bullosa
Displasia ectodérmica anhidrótica
Dermatoglifos anormales
Eritrodermia congénita ictiosiforme no bulosa
Disminución del sudor debido a una disfunción autonómica
Nevos hiperpigmentados
Lesiones papilares generalizadas
Despigmentación
hiperpigmentación de la piel
Ausencia de grasa subcutánea
Hemangioma cavernoso de la cara
Atrofia cutánea difusa
Telangiectasia difusa
Disposición linear o en rayas de hiperqueratosis macular en áreas de flexión
Máculas hiper e hipopigmentadas de 2 a 5 mm
Aspecto prematuramente envejecido
Hiperqueratosis palmoplantar por fricción
Infecciones recurrentes por estafilococos
Disminución del número de glándulas sudoríparas
Rayas de hiperqueratosis lo largo de cada dedo sobre la palma
Hiperqueratosis folicular
Ictiosis generalizada
Atrofia cutánea difusa lenta
Hiperpigmentación progresiva
Ausencia congénita de la piel de las extremidades
Hiperqueratosis punteada de palmas y plantas
Manchas de hipo e hiperpigmentación
Aplasia dérmica focal
hipoplasia
Pigmentación moteada de áreas fotoexpuestas
Hipopigmentación generalizada
Edema del dorso de las manos
Hipoplasia de las unidades pilosebáceas
Piel redundante en los dedos
Cutis laxa palmoplantar
Falta de tejido graso subcutáneo
Hiperpigmentación irregular de la espalda
Aumento del número de los pliegues de la piel
Neurofibromatosis atípica
Tejido subcutáneo de color amarillento cubierto por piel fina y escamosa
Manchas hipopigmentadas de la piel en los brazos
Displasia ectodérmica hidrótica
Hiperqueratosis palmoplantar punctata
Alopecia congénita occipital posterior
Manchas lineares hipopigmentadas
Aplasia cutis congénita del vértice del cuero cabelludo en la línea media
Fotosensibilidad severa
Lipoma cutánea frontal
Pigmentación ausente del tórax ventral
Hiperqueratosis epidérmica
Pibaldismo
Queratosis palmoplantar congénita
Hiperpigmentación linear
Queratosis palmoplantar con eritema e incrustaciones
Descamación de la piel inmediatamente después del nacimiento
Hipohidrosis
hiperhidrosis
Distribución del tejido graso subcutáneo anormal
Queratosis palmoplantar congénita simétrica
Patrón de hipopigmentación en confeti de la piel de la pierna
Hiperqueratosis plantar
Hiperqueratosis epidermolítica localizada
Dermatoglifos inusuales
Telangiectasias en la piel expuesta y no expuesta al sol
Manchas café con leche múltiples
Bucle radial dermatoglífico en dedo índice
Dermatitis seborreica generalizada
Hiperqueratosis lenticularis perstans
Manchas lineares hiperpigmentadas
Dermatitis atópica de inicio tardío
Hiperpigmentación generalizada de bronce
Neurofibromas palmares
Rayas longitudinales de hipopigmentación mediosternal
Telangiectasia macularis eruptiva perstans
Fragilidad de la piel con ampollas que no dejan cicatriz
Telangiectasias que dan un aspecto de mármol a la piel
Pecas pigmentadas numerosas
Hiperpigmentación reticular
Aplasia cutis congénita en el tronco o las extremidades
Aplasia cutis congénita en el área parietal posterior
Aplasia
hipoplasia de las glándulas sudoríparas ecrinas
Piel redundante en la infancia
Lipomas subcutáneos dolorosos
Keratodermia palmoplantar congénita
Pliegues palmares únicos bilaterales
Generalizada marrón pigmentación reticulada
Hemangioma capilar de la línea media de la cara
Patrón dermatoglífico palmar complejo
Pecas en las áreas expuestas al sol
Arrugamiento excesivo de la piel palmar
Lesiones cutáneas malignas múltiples
Displasia ectodérmica hipohidrótica
Crestas dérmicas palmares anormales
Edema hipoproteinémico
Ronchas o manchas de pigmentación de la piel
Queratosis espinosas de palmas y plantas
Nevus flammeus cervical
Pigmentación de la piel reticulada fina
Calcificación subcutánea
Leiomioma cutáneo
Telangiectasia de superficies de extensión
Anomalías de pigmentación de la piel expuesta al sol
Osteomielitis mandibular
Aplasia del cóndilo mandibular
Hipoplasia del cóndilo mandibular
Microftalmia bilateral
Neuropatía óptica isquémica anterior no arterítica
Discromatopsia
Ceguera nocturna congénita no progresiva
Desprendimiento periférico de retina por tracción
Ausencia de pestañas externas
Anomalía congénita de los músculos extraoculares
Cataratas punctata
Hipertrofia congénita del epitelio pigmentario de la retina
Oftalmoplejia progresiva
Ectropion del párpado inferior
Eversión del tercio lateral del párpado inferior
Aplasia de la glándula lacrimal
Catarata nuclear difusa
Puntos retinianos hiperpigmentados amplios
Hipopigmentación e hiperpigmentación coriorretiniana
Disminución de la visión central
Pestañas rizadas
Degeneración quística de la retina
Deterioro del inicio y mantenimiento de la búsqueda visual
Reflejo vestíbulo-ocular anormal
Ceguera nocturna progresiva
Hipoplasia del iris
Maculopatía viteliforme
Estenosis del conducto lacrimal
Fondo de ojo despigmentado
Avascularización retiniana periférica
Función pupilar anormal
Ptosis unilateral
Ausencia de respuesta de conos y bastones en electroretinograma
Distrofia corneal en huella dactilar
Catarata congénita polimórfica no nuclear
Alteración del reflejo pupilar a la luz
Hipoplasia de los párpados inferiores
Disgenesia del segmento anterior
Depósitos pigmentarios retinianos
Pigmentación anormal de la retina
Movimientos paroxísticos involuntarios de los ojos
Degeneración corneal
Afaquia congénita primaria
Ausencia de pestañas internas
Distrofia corneal en forma de banda
Opacidades vítreas periféricas
Catarata zonular juvenil
Músculos extraoculares débiles
Melanoma intraocular
Conjuntivitis irritativa crónica
Córnea plana
Aneurismas saculares conjuntivales
Pérdida de epitelio pigmentario de la retina
Opacidad del epitelio corneal
Miosis congénita
Hipopigmentación del iris
Displasia coriorretiniana
Hipoplasia de la glándula lacrimal
Ceja curvada lateralmente
Glándulas lacrimales grandes
Retinopatía pigmentaria en forma de espículas óseas
Movimientos incontrolables del ojo
Pestañas largas en filas irregulares
Coloboma Iridoretinal
Nistagmo horizontal monocular
Coloboma Irido-fundal
Hipoplasia de fóvea
Distrofia macular
Distrofia epitelial corneal juvenil
Ángulos de cámara anterior en forma de ranura en niños
Discapacidad visual congénita
Opacidad del estroma de la córnea
Distrofia cristalina corneal
Escotoma pericentral
Telangiectasia retiniana
Cámara anterior profunda
Hipoplasia del nervio óptico
Tortuosidad vascular central de la retina
Degeneración periférica de la retina
Hipoplasia de retina
Deterioro de seguimiento lento
Anomalía vitreoretinal
Hipoplasia de cuerpo ciliar
Pestañas inferiores escasas
Cicatrices coriorretinianas
Neovascularización de la retina periférica y posterior
Aplasia del segmento anterior
Catarata cortical pulverulenta
Degeneración periférica de conos
Catarata subcapsular posterior
Atrofia irregular del epitelio pigmentario de la retina
Seguimiento microsacádico
Anomalía pigmentaria en moteado de la mácula lútea
Catarata cortical anterior
Malformación vascular retiniana
Depósitos blanquecinos conjuntivales
Aumento de la longitud axial del globo ocular
Distrofia corneal granular
Monocromacia
Compresión del nervio óptico
Coloboma de retina bilateral
Distrofia corneal punctata
Nistagmo pendular horizontal
Ulceración herpetiforme de la córnea
Uveitis no granulomatosa
Retinopatía tipo sal y pimienta
Distribución anormal de las arteriolas y vénulas de la retina
Parálisis supranuclear horizontal
Heterocromía central
Catarata presenil
Punto lacrimal atrésico
Exudado central de la retina
Oftalmoplejia total
Distrofia nodular corneal
Degeneración difusa de conos retimianos
Ceguera nocturna  del adulto
Oftalmoplejia externa restrictiva no progresiva
Pigmentación de la esclerótica
Sinequias de cámara anterior
Catarata Progresiva
Fisuras palpebrales en forma de S
Distrofia corneal en mosaico
Ptosis progresiva
Pestañas superiores largas
Depósitos amiloides en el humor vítreo
Atenuación de los vasos sanguíneos de la retina
Proliferación vascular retiniana
Defecto glaucomatoso del campo visual
Opacidad punctata de la córnea
Lagunas coriorretinianas
Nistagmo horizontal congénito
Calcificación de la retina
Infarto focal de retina
Oftalmoplejia externa restrictiva parcial
Degeneración macular relacionada con la edad
Hemangioma coroideo
Linea de Schwalbe anormalmente prominente
Hendidura palpebral con forma de almendra
Ceguera congénita
Catarata cortical juvenil
Conjuntivitis alérgica
Distrofia corneal marginal
Distrofia corneal central
Movimientos sacádicos horizontales lentos
Músculos extraoculares ausentes
Catarata subcapsular posterior iridiscente
Hipoplasia de punto lacrimal
Degeneración retiniana progresiva
Hipopigmentación del fondo de ojo
Retinopatía exudativa
No adhesión embrionaria de retina
Conducto lacrimal hipoplásico
Hemorragia vítrea
Atrofia coriorretiniana paravenosa pigmentada
Vasculatura anormal del iris
Aumento de la presión intraocular
Ptosis bilateral congénita
Distrofia retiniana reticular
Distrofia corneal posterior polimórfica
Desprendimiento traccional de retina
Fibras retinianas hipermielinizadas
Disminución lenta de la agudeza visual
Aplasia del conducto lacrimal
Potenciales visuales evocados  alterados
Desprendimiento periférico de retina
Pliegues epicánticos prominentes
Midriasis bilateral congénita
Ceja lateral ancha
Opacidades lenticular subcapsular posterior juvenil
Oftalmoplejia externa restrictiva
Degeneración de la retina en panal
Monocromacia de cono azul
Movimientos extraoculares limitados
Oftalmoplejia interna
Anquilosis congénita del estribo
Segimiento microsacádico intermitente
Hendidura palpebral estrecha unilateral
Retinitis pigmentosa pericentral
Catarata cortical posterior densa
Atrofia peripapilar coriorretiniana
Opacidad de la córnea
Atrofia óptica por compresión del nervio craneal
Alteración de la pigmentación de la retina
Distrofia corneal moteada
Distrofia retiniana macrorreticular
Vitreoretinopatía degenerativa
Ausencia de potenciales evocados visuales
Vítreo primario hiperplásico persistente
Ptosis congénita
Catarata lamelar
Displasia de retina
Movimientos sacádicos horizontales hipométricos
Catarata cerulea
Nistagmo horizontal evocado
Ausencia del epitelio pigmentario de la retina
Amplitud reducida de onda b
Oclusión de las arteriolas de la retina
Aumento de vascularización retiniana
Defecto progresivo del campo visual
Hipopigmentación macular
Exudado intrarretiniano
Estroma del iris hipoplásico
Degeneración de retina
Malformación de conductos lacrimales
Pérdida periférica del campo visual
Disminución del reflejo corneal
Hiperpigmentación foveal
Alteración de la pigmentación macular
Movimientos de seguimiento ocular espasmódicos
Distrofia corneal congénita
Glaucoma congénito primario
Tres filas de pestañas
Opacidad periférica de la córnea
Miopía congénita
Microaneurismas arteriolares del fondo de ojo central
Subluxación superior del cristalino
Degeneración progresiva de conos
Catarata nuclear congénita
Nistagmo opticocinético horizontal
Degeneración macular cistoide
Arteritis de retina
Catarata sutural posterior
Exotropia congénita
Pigmentación anormal del iris
Retinitis pigmentosa inversa
Cámara anterior del ojo ausente
Aplástica
hipoplasia de glándulas lacrimales
Opacidades corneales subepiteliales
Glaucoma congénito de inicio tardío
Constricción de las arteriolas de la retina
Potenciales visuales evocados  con latencia alargada
Anomalía de la vasculatura de la retina
Anomalía de la vasculatura del ojo
Anomalía de la línea de Schwalbe
Anomalía de los músculos extraoculares
Anomalía de las fisuras palpebrales
Pliegues retinianos anormales
Aplasia
hipoplasia del iris
Anomalía de la vasculatura de la conjuntiva
Aplasia
hipoplasia de la úvea
Aplasia
hipoplasia ocular
Aplasia
hipoplasia del fondo de ojo
Aplasia
hipoplasia del nervio óptico
Aplasia
hipoplasia de la mácula
Aplasia
hipoplasia de la fóvea
Aplasia
hipoplasia de la retina
Aplasia
hipoplasia del segmento anterior del ojo
Aplasia
hipoplasia del cristalino
Ictiosis
Aplasia
hipoplasia de la piel
Ampollas anormales de la piel
Piel anormalmente débil o hiperextensible
Tumor de la piel
Pelo ralo
Hipertensión materna
Virilización materna en el embarazo
Estradiol disminuído en suero materno
Engrosamiento perióstico metatarsal
Pie cavo progresivo
Osteoporosis del tarso
Adelgazamiento cortical en metatarsianos
Quinto metatarsiano ausente
Dedo gordo del pie varus
Deformidad del pie valgo
Desviación medial del pie
Hipoplasia de la segunda a la quinta falange media de los dedos de los pies
Quinto metatarsiano no osificado
Anomalía del quinto metatarsiano
Anquilosis de las pequeñas articulaciones de los pies
Cuarto dedo del pie corto
Dedos de los pies muy separados
Osteólisis del astrágalo
Desviación medial del segundo dedo del pie
Fusión parcial del tarso
Metatarsianos agrandados con cavidades medulares ensanchadas
Retraso en la osificación de los huesos del tarso
Pliegue plantar entre el primer y segundo dedos del pie
Osificación avanzada de los huesos del tarso
Deformidad en equinovaro
Dedo gordo del pie ancho en su parte distal
Contracturas en flexión plantar
Pliegues plantares múltiples
Esclerosis endosteal de la diáfisis del metatarso
Clinodactilia del tercer dedo del pie
Limitación de flexión de los dedos del pie
Acortamiento del cuello del astrágalo
Huesos del tarso deformados
Fusión calcaneonavicular
Talipes calcaneovaro
Segundo metatarsiano desplazado hacia posterior
Calcáneo bipartito
Punteado tarsal
Rotación medial del maléolo medial
Estrechamiento distal de los metatarsianos
Osificación tarsal iIrregular
Calcáneo en equinovaro
Dislocación de los dedos del pie
Retraso en la osificación del calcáneo
Aplanamiento de la cúpula del astrágalo
Alteración de la agregación plaquetaria inducida por la epinefrina
Transaminasas séricas elevadas durante infecciones
Tiempo de protrombina prolongado
Paresia hipopotasémica periódica
Mucopolisacariduria
Hiperapobetalipoproteinemia
Aciduria 3-hidroxidicarboxílica
Fosfatasa alcalina de leucocitos ausente
Hiperamonemia asintomática
Déficit del nivel de cortisol circulante
Disminución de las células T auxiliares circulantes
Disminución de la actividad de la beta-galactosidasa
Acumulación de ácidos grasos de cadena muy larga
Disminución de la actividad del factor VII
Hiperbilirrubinemia no conjugada neonatal
Matriz del cartílago anormal
Electrooculograma  disminuído
Creatina fosfoquinasa ligeramente elevada
Abetalipoproteinemia
Hipoplasia adrenocortical
Pubertad precoz masculina
Citomegalia adrenocortical
Ausencia de caracteres sexuales secundarios
Disgenesia tiroidea
Insensibilidad a la insulina
Agenesia tiroidea
Insuficiencia gonadal primaria
Adenomas pancreático de células beta múltiple
Ausencia de desarrollo puberal
Hipoparatiroidismo congénito
Hiperparatiroidismo primario
Déficit de prolactina
Pubertad precoz con tumor de células de Sertoli
Diabetes insulino-dependiente resistente a cetosis
Insuficiencia suprarrenal primaria
Hiperplasia paratiroidea
Insuficiencia ovárica prematura
Agenesia paratiroidea
Déficit de gonadotropina
Disminución de estradiol sérico
Disgenesia de la glándula suprarrenal
Hipocortisolemia
Hiperplasia suprarrenal
Infertilidad femenina
Hipotiroidismo compensado
Hiperplasia folicular de tiroides
Insuficiencia de andrógenos
Resistencia hipofisaria a la hormona tiroidea
Linfangiectasia tiroidea
Déficit de testosterona en varones
Hiperplasia suprarrenal macronodular
Nivel de FSH  elevado
Déficit de progesterona sérica
Pubertad precoz isosexual
Hipotiroidismo hipotalámico
Hipoplasia suprarrenal medular
Déficit de hormona de crecimiento secundario
Pseudohipoaldosteronismo
Hipoplasia adrenal congénita
Hipotiroidismo hipofisario
Hipertiroxinemia eutiroidea
Hiperplasia tiroidea
Hipercalcemia infantil
Bocio congénito
Diabetes mellitus neonatal transitoria
Adenoma adrenocortical
Hiperplasia suprarrenal congénita
Déficit del receptor
Adenoma de islotes pancreáticos
Defecto de la oxidación y organificación tiroidea de yoduro
Cuerpos de inclusión de neutrófilos
Defecto del transportador de lisina mitocondrial
Aumento de la hemólisis de glóbulos rojos por  tensión de cizallamiento
Colágeno del cartílago anormal
Defecto en el transportador renal tubular de lisina
Aminoaciduria transitoria
Electrorretinograma de conos anormal
Anomalía de la homeostasis del zinc
Atrofia cortical cerebelosa
Hiperlipidemia transitoria
Hiperamonemia aguda
Hiperbilirrubinemia no conjugada
Hiperinsulinemia en ayunas
Hipofosfatemia transitoria
Hiperglicinemia no cetósica
Deficiencia parcial del factor H del complemento
Adenoma celular corticotropo hipofisario
Aciduria dicarboxílicas de cadena larga
Hiperfenilalaninemia transitoria
Excreción de dermatan sulfato en orina
Degeneración olivar
Mioglobinuria inducida por el ejercicio
Depósito anormal de hierro mitocondrial
Aciduria dicarboxílica de cadena media
Pérdida de mielinización de los cordones posteriores de la médula espinal
Disminución de la actividad del complejo ii mitocondrial
Carnitina libre plasmática disminuida
Mitocondrias anormales en el tejido muscular
Fosfatasa alcalina leucocitaria elevada
Alteración de la agregación plaquetaria inducida por colágeno
Disminución de la actividad del factor X
Morfología mitocondrial anormal
Alteración del electrorretinograma de conos y bastones
Deficiencia de vitamina b6
Nefrocalcinosis microscópica
Disminución de la actividad del factor de von Willebrand
Creatina quinasa elevada después del ejercicio
Aminoaciduria renal
Aciduria orgánica compleja
Deficiencia funcional parcial del factor D del complemento
Diaminoaciduria
Ácidosis tubular renal distal
Aminoácidos plasmáticos de cadena ramificada elevados
Hipoplasia del músculo dilatador del iris
Aumento de la tendencia falciforme de los eritrocitos
Disminución de la actividad del complejo iv mitocondrial
Déficit de inmunoglobulina IgG2
Alteración de la adhesión plaquetaria
Hiperaminoaciduria neutral
Deficiencia de la activación del factor X
Hiperlipidemia combinada
Disminución de la actividad del factor XIII
Hiperprolinemia
Hipoproteinemia neonatal
Palidez del tracto corticoespinal
Aplasia
hipoplasia del dedo gordo del pie
Aplasia
hipoplasia de los huesos del tarso
Anomalía del calcáneo
Anomalía del astrágalo
Contracturas que afectan las articulaciones de los pies
Sinostosis tarsal
Osificación anormal de los huesos del tarso
Osificación anormal de los metatarsianos
Anomalía del metabolismo de la vitamina a
Trastornos puberales y gonadales
Discurso disártrico nasal
Crecimiento lento de las uñas
Aplasia
hipoplasia de las uñas
Anormalidad de la uña del pie
Pérdida o desprendimiento recurrente de la uñas de los dedos de manos y pies
Uñas distróficas
Hiperqueratosis subungueal
Uñas encurvada congénita del cuarto dedo del pie
Onicodistrofia congénita
Infección crónica de las uñas por monilias
Hipoplasia de la uña del quinto dedo de la mano
Hiperqueratosis ungueal
Onicolisis de la región distal de las uñas
Onicogriposis de las uñas de los pies
Uñas de los dedos de la mano con crestas
Distrofia ungueal
Uñas del pulgar hiperconvexas
Fragmentos de hiperqueratosis subungueal
Cifosis lumbar en la infancia
Seis vértebras lumbares
Hipoplasia vertebral
Platispondilia cuadrada
Degeneración del disco intervertebral
Calcificaciones punctatas vertebrales
Cuerpos vertebrales lumbares altos
Acuñamiento vertebral
Displasia espinal
Hipoplasia de la quinta vértebra lumbar
Cuerpos vertebrales toracolumbares de forma cuboidea
Fisura vertebral - hendidura vertebral
Protusiones anteriores en forma de lengüeta de las vértebras lumbares
Acuñamiento anterior de L1
Curvatura de la columna vertebral invertida
Vértebras cervicales hipoplásicas
Ausencia intraútero de osificación de los cuerpos vertebrales
Coxis ausente o hipoplásico
Vértebras torácicas bífidas
Anomalía del arco vertebral
Hemivértebras lumbares
Anomalía vertebral C1-C2
Herniación de núcleos intervertebrales
Hiperostosis vertebral
Deformidades de la columna vertebral
Acuñamiento posterior de los cuerpos vertebrales
Estenosis cervical del canal espinal
Vértebras coccígeas hipoplásicas
Fusión espinal progresiva de las vértebras cervicales
Distancia interpedicular vertebral estrecha
Hipoplasia vertebral posterior
Platispondilia con placas-delgadas
Cifoescoliosis congénita
Cifosis lumbar
Sacro displásico
Subluxación C2-C3
Estrechamiento de las distancias interpediculares caudales
Escoliosis congénita progresiva
Agenesia vertebral cervical
Procesos espinales hipoplásicos
Hipoplasia de vértebras cervicales
Inestabilidad cervical
Hipoplasia central de la vertebra
Ausencia de apófisis espinosas de vértebras torácicas bajas y lumbares
Ausencia de vértebras
Hemivértebra torácica
Segmentación sacra anormal
Displasia cervical vertebral
Estrechamiento de la distancia interpedicular de vértebras torácicas bajas
Coxis prominente
Estrechamiento anteroposterior del  cuerpo vertebral
Vértebras sacras hipoplásicas
Placas terminales escleróticas irregulares
Vértebras cervicales pobremente osificadas
Cambios vertebrales similares a la enfermedad de Scheuermann
Cuerpos vertebrales hipoplásicos
Espondilosis cervical
Asimetría de las carillas articulares de la columna vertebral
Cuerpos vertebrales cervicales con diámetro anteroposterior disminuido
Estrechamiento interpedicular toracolumbar
Estrechamiento de la distancia interpedicular lumbar
Redondeo anterior de los cuerpos vertebrales
Espondilolistesis en L5-S1
Defectos de segmentación del sacro
Cierre prematuro de la fontanela anterior
Subluxación inferior del cristalino
Múltiples filas de pestañas
Disostosis craneofacial congénita
Ausencia de dentición permanente
Hipermetropía de alto grado
Hendidura central de labio y paladar
Discapacidad auditiva
hipoacusia neurosensorial moderada
Oftalmoparesia estática
Apariencia leonina
Opacidad posterior-central de la córnea
Discapacidad auditiva
hipoacusia bilateral de conducción
Aplasia
hipoplasia de las vértebras
Anomalía de las apófisis espinosas vertebrales
Aplasia
hipoplasia del sacro
Aplasia
hipoplasia de la columna vertebral
Anomalía del coxis
Fosita cutánea en zona posterior del hélix
Deficiencia auditiva
hipoacusia neurosensorial congénita
Aumento del vello del hélix del pabellón auricular
Ausencia de reflejo acústico
Hendidura en la parte superior del pabellón auricular
Desplazamiento superior de la oreja
Pérdida auditiva para bajas frecuencias
Hélice anormalmente plegada
Microtia
Malformación coclear
Función vestibular ausente
Hipoplasia de la región superior del hélix
Arreflexia vestibular
Microtia de segundo grado
Malformación del oído externo
Deficiencia auditiva
hipoacusia neurosensorial para bajas frecuencias
Desarrollo insuficiente del hélix
Desarrollo insuficiente de la parte superior del hélix
Hipoplasia de la cóclea
Discapacidad auditiva
hipoacusia neurosensorial leve
Abertura del conducto auditivo externo en forma de hendidura
Hipoplasia del hélix
Discapacidad auditiva
hipoacusia de conducción congénita
Anti-trago prominente
Deficiencia auditiva
hipoacusia neurosensorial postlingual
Discapacidad auditiva
hipoacusia de conducción leve
Deformidad unilateral del oído externo
Fosita cutánea suprauricular
Discapacidad auditiva
hipoacusia de conducción progresiva
Cartílago auricular hipertrófico
Anomalía morfológica del oído medio
Discapacidad auditiva
hipoacusia neurosensorial infantil
Discapacidad auditiva neurosensorial de inicio en el adulto
Discapacidad auditiva
hipoacusia bilateral mixta o neurosensorial
Discapacidad auditiva
hipoacusia neurosensorial grave o severa
Anomalía del estribo
Acúfeno pulsátil
Disgenesia ureteral
Tejido gonadal ausente
Hipertrofia de la vejiga urinaria
Glomerulopatía lobular
Hipoplasia gonadal
Macroorquidia congénita
Nefroblastomatosis
Fracaso de desarrollo puberal femenino
Meato uretral desplazado anteriormente
Urolitiasis por ácido úrico independiente de gota
Disfunción eréctil autonómica
Glomerulonefritis
Aplasia
hipoplasia de la trompa de Falopio
Pseudohermafroditismo masculino incompleto
Múltiples quistes renales medulares pequeños
Disgenesia renotubular
Estenosis uretral
Sarcoma renal
Esclerosis del esfínter uretral
Hipertrofia del clítoris
Alteración de la absorción tubular renal de histidina
Disgenesia gonadal, sexo masculino
Espermatogénesis anormal
Tabique vaginal parcial
Nefrolitiasis por oxalato de calcio
Ovarios poliquísticos agrandados
Megaureter congénito
Síndrome nefrótico congénito
Hipoplasia renal
aplasia
Necrosis tubular aguda
Agrandamiento de labios menores
Aplasia
hipoplasia del útero
Hipoplasia de la próstata
Criptorquidia bilateral
Divertículo vesical solitario
Labios menores hipertróficos
Síndrome nefrótico transitorio
Hamartoma renal
Hipoplasia de la trompa de Falopio
Ausencia de genitales internos
Calcificación gonadal
Triplicación ureteral
Duplicación del uretral distal
Escroto ausente
Desarrollo parcial del cuerpo del pene
Hiperplasia prostática benigna
Estenosis ureterovesical
Disgenesia testicular
Fístula uretrovaginal
Atrofia renal unilateral
Displasia renal unilateral
Falla testicular primaria
Divertículo uretral
Disgenesia gonadal con apariencia femenina, masculina
Hipoplasia del ovario
Hipoplasia de la vagina
Ausencia de labios mayores
Genitales externos femeninos en individuo con cariotipo 46, XY
Hipofosfatemia renal
Testículos displásicos
Disminución del tamaño de los testículos
Hipoplasia del pene
Riñón parcialmente duplicado
Seudohipertrofia labial
Septum vaginal longitudinal
Barra mediana prostática prominente
Hipospadia coronal
Alteración del pliegue ariepiglótico
Osificación cartilaginosa de la laringe
Hipoplasia laríngea
Atresia laríngea
Hendidura laríngea
Malformación del cartílago laríngeo
Aplasia de la epiglotis
Calcificación de laringe
Laringotraqueomalacia
Cuerdas vocales arqueadas
Parálisis unilateral de cuerda vocal
Comportamiento violento
Comportamiento repetitivo compulsivo
Ausencia de interacción social
Alucinaciones auditivas
Automutilación de la lengua y los labios por movimientos involuntarios
Conducta sexual inapropiada
Rasgos obsesivo-compulsivo
Aplasia
hipoplasia del oído
Aplasia
hipoplasia del oído externo
Aplasia
hipoplasia del oído medio
Aplasia
hipoplasia del oído interno
Anormalidad de la próstata
Anormalidad de la arteria renal
Alteración de las cuerdas vocales
Dislocación congénita de cadera bilateral
Ensanchamiento de las metáfisis femorales proximales
Ensanchamiento de la epífisis capital femoral
Retraso en la osificación de las ramas púbicas
Cresta ilíaca con indentaciones
Retraso en la osificación del hueso púbico
Cabeza femoral con forma de cono
Alas ilíacas displásicas
Caderas en rotación externa
Osificación precoz de la epífisis capital femoral
Ensanchamiento de la hendidura menor sacrociática
Limitación del movimiento de la cadera
Hipoplasia del trocánter menor
Hipoplasia de la cabeza femoral
Muesca sacroilíaca estrecha
Cabeza femoral ancha
Displasia acetabular
Alas ilíacas altas
Cabeza femoral aplanada
Aplasia de huesos púbicos
Alas ilíacas grandes
Cuello femoral estrecho
Ausencia de osificación de la epífisis femoral
Hipoplasia de la región inferior del íliaco
Ramas isquiopubianas hipoplásicas
Hipoplasia de las ramas púbicas inferiores
Hipoplasia del cuerpo del ilíaco
Dislocación de la cabeza femoral
Retraso en la osificación de las epífisis femoral proximal
Retraso en la osificación de la cabeza femoral
Ramas púbicas hipoplásicas
Techo acetabular irregular
Osificación multicéntrica de la cabeza femoral
Calcificación punteada epífisis proximal humeral
Pelvis hipoplásica
Osteoartritis de cadera
Talla baja mesomélica
Retraso del crecimiento intrauterino grave
Talla baja  moderada
Retraso del crecimiento postnatal grave
Moderado retraso del crecimiento postnatal
Talla baja neonatal con tronco corto
Retraso en el desarrollo secundario a infecciones recurrentes
Dificultades para alimentarse durante la lactancia
Talla baja desproporcionada con miembros cortos
Leve retraso en el crecimiento intrauterino
Pérdida de tejido adiposo
Enanismo con miembros cortos grave
Retraso del crecimiento postnatal
Rizomelia
Talla baja  letal con extremidades cortas
Obesidad troncal de inicio en la infancia
Talla baja neonatal con miembros cortos
Talla baja con tronco corto de inicio infantil
Talla baja asimétrica
Hipotonía neonatal generalizada
Hipotonía muscular del tronco
Linfadenopatía generalizada
Rabdomiolisis aguda
Amiotrofia distal de extremidad inferior
Pérdida de la capacidad de caminar en la infancia temprana
Amiotrofia de cintura pélvica
Hipotonía muscular infantil
Amiotrofia proximal de miembro superior
Hipoplasia del músculo del hombro
Amiotrofia de músculo pectoral mayor
Atrofia muscular intrínseca de la mano
Atrofia muscular distal progresiva
Amiotrofia proximal del miembro inferior
Debilidad muscular distal de extremidad superior
Hipoplasia del músculo de la pantorrilla
Debilidad del músculo tibial
Atrofia muscular no progresiva
Rigidez muscular inducida por el ejercicio
Hipertrofia muscular de extremidades inferiores
Rigidez muscular de las piernas
Distrofia muscular escapulohumeral
Disminución de la actividad de la cadena respiratoria mitocondrial
Miopatía necrotizante
Hipertrofia del músculo de la pantorrilla
Hipoplasia del músculo del cuello
Aumento de la grasa intramuscular
Agenesia del diafragma
Atrofia muscular de cintura pélvica
Calambres en las piernas inducidos por el ejercicio
Aumento de la grasa intraabdominal
Debilidad muscular proximal de extremidades inferiores
Debilidad muscular proximal de extremidades superiores
Pectoral hipoplasia
Pérdida de tejido adiposo subcutáneo del tronco
Aumento de tejido adiposo subcutáneo del tronco
Hipoplasia de la musculatura
Debilidad de los músculos intrínsecos de la mano
Bíceps hipoplásicos
Hipoplasia del músculo serrato anterior
Ausencia congénita de los músculos de los glúteos
Hipoplasia muscular del miembro superior
Pérdida de tejido adiposo subcutáneo glúteo
Pérdida progresiva del tejido adiposo facial
Fatiga muscular inducida por el ejercicio
Debilidad muscular de la pared abdominal
Aumento de tejido conectivo
Hipoplasia del músculo dorsal ancho
Debilidad en dorsiflexión del pie
Debilidad generalizada de los músculos de las extremidades
Amiotrofia de la musculatura del tobillo
Atrofia muscular espinal segmentaria
Hipertrofia muscular marcada
Rabdomiólisis inducida por ejercicio
Dificultad para correr
Atrofia muscular peroneal
Atrofia del músculo cuádriceps
Contenido aumentado de glucógeno muscular
Debilidad muscular distal de extremidad inferior
Miopatía escapuloperoneal
Atrofia muscular generalizada de miembro
Pérdida de tejido adiposo subcutáneo de miembros superiores
Contenido aumentado de lípidos en tejido muscular
Lipodistrofia congénita generalizada
Atrofia muscular escapular
Hipotonía axial infantil
Debilidad muscular distal progresiva
Lipodistrofia generalizada
Atrofia muscular espinal progresiva
Miopatía mitocondrial infantil letal
Miopatía inflamatoria
Disminución del reflejo de aquiles
Debilidad muscular proximal progresiva
Debilidad de los músculos extensores largos de los dedos de la mano
Muesca de la línea media del reborde alveolar superior
Crecimiento excesivo del reborde alveolar
Lengua de inserción posterior
Dificultades de articulación del habla
Hipertrofia progresiva de la cresta alveolar
Hendidura del reborde alveola inferior
Candidiasis oral crónica
Hendidura central del paladar
Crestas alveolares anteriores gruesas
Hendidura submucosa de labio
Mordida abierta anterior con maloclusión
Aplasia
hipoplasia de la pelvis
Aplasia
hipoplasia del hueso púbico
Osificación anormal del hueso púbico
Anomalía de la osificación ósea de la pelvis
Osificación anormal que afecta a la cabeza femoral y el cuello femoral
Aplasia
hipoplasia de la cabeza femoral y el cuello femoral
Denervación del diafragma
Eventración diafragmática
Hemidiafragma izquierdo ausente
Debilidad diafragmática
Aplasia
hipoplasia que afecta el esqueleto
Aplasia
hipoplasia de los huesos del cráneo
Aplasia
hipoplasia del maxilar
Aplasia
hipoplasia de la mandíbula
Aplasia
hipoplasia de los senos frontales
Aplasia
hipoplasia de los senos
Morfología anormal del esqueleto axial
Aplasia
hipoplasia que afectan a los huesos del esqueleto axial
Hipo e hiperpigmentación mixta de la piel
Anomalía del tejido adiposo
Lipodistrofia
Aumento de tejido adiposo
Anomalía de la musculatura de las extremidades
Aplasia
hipoplasia de la musculatura de las extremidades
Amiotrofia miembro superior
Atrofia muscular de la mano
Anomalía de la musculatura del tórax
Anomalía de la densidad mineral de los huesos del tarso
Osteólisis comprometiendo huesos de los pies
Duplicación que afecta los huesos de los pies
Sinostosis comprometiendo huesos de los miembros inferiores
Osteólisis comprometiendo huesos de los miembros inferiores
Sinostosis comprometiendo huesos de los pies
Depleción de ADN mitocondrial en el tejido muscular
Duplicación que afecta los huesos de las extremidades superiores
Huesos supernumerarios del esqueleto axial
Anormalidad de la arteria cerebral
Epífisis agrandada de la falange distal del quinto dedo de la mano
Epífisis pequeña de la falange distal del quinto dedo de la mano
Epífisis triangular de la falange distal del quinto dedo de la mano
Anomalía de la falange proximal del quinto dedo de la mano
Anomalía de las epífisis del quinto dedo de la mano
Anomalía de la epífisis de la falange proximal del quinto dedo de la mano
Epífisis triangular de la falange proximal del quinto dedo de la mano
Epífisis en forma de cono de la falange proximal del quinto dedo de la mano
Epífisis de marfil de la falange proximal del quinto dedo de la mano
Epífisis agrandada de la falange proximal del quinto dedo de la mano
Epífisis pequeña de la falange proximal del quinto dedo de la mano
Epífisis ausentes de la falange proximal del quinto dedo de la mano
Aplasia
hipoplasia de la falange media del quinto dedo de la mano
Ausencia de la falange media del quinto dedo de la mano
Calcificación anormal de los huesos del carpo
Punteado de la epífisis de la falange distal del quinto dedo de la mano
Fragmentación de la epífisis de la falange distal del quinto dedo de la mano
Epífisis irregular de la falange distal del quinto dedo de la mano
Falange media del quinto dedo de la mano en forma de bala
Falange media ancha del quinto dedo de la mano
Defectos osteolíticos de la falange media del quinto de la mano
Epífisis triangulares de los metacarpianos
Anomalía de las falanges del cuarto dedo de la mano
Falange media curvada del quinto dedo de la mano
Anomalía de las epífisis del cuarto dedo de la mano
Esclerosis irregular de la falange media del quinto dedo de la mano
Sinfalangismo proximal
medio de quinto dedo de la mano
Sinfalangismo de la falange media del quinto dedo de la mano
Desviación del quinto dedo de la mano
Desviación cubital del quinto dedo de la mano
Falange media del quinto dedo de la mano en forma triangular
Contractura de la articulación del quinto dedo de la mano
Contractura de la articulación interfalángica distal del quinto dedo de la mano
Contractura de la articulación interfalángica proximal del quinto dedo de la mano
Contractura de la articulación metacarpofalángica del quinto dedo de la mano
Epífisis en forma de corchete de la falange distal del quinto dedo de la mano
Pseudoepífisis de la falange distal del quinto dedo de la mano
Fragmentación de las epífisis de metacarpianos
Epífisis irregulares de los metacarpianos
Epífisis de marfil de los metacarpianos
Aplasia
hipoplasia de la falange proximal del quinto dedo de la mano
Pseudoepífisis de los metacarpianos
Epífisis pequeñas de los metacarpianos
Punteado epifisiario de los metacarpianos
Epífisis de metacarpianos ausentes
Epífisis en forma de corchete de la falange proximal del quinto dedo de la mano
Anomalía de la epífisis de la falange distal del quinto dedo de la mano
Epífisis irregular de la falange proximal del quinto dedo de la mano
Pseudoepífisis de la falange proximal del quinto dedo de la mano
Punteado de la epífisis de la falange proximal del quinto dedo de la mano
Fragmentación de la epífisis de la falange proximal del quinto dedo de la mano
Epífisis ausentes de la falange media del quinto dedo de la mano
Epífisis en forma de corchete de la falange media del quinto dedo de la mano
Epífisis en forma de cono de la falange media del quinto dedo de la mano
Epífisis agrandada de la falange media del quinto dedo de la mano
Fragmentación de la epífisis de la falange media del quinto dedo de la mano
Epífisis irregular de la falange media del quinto dedo de la mano
Epífisis de marfil de la falange media del quinto dedo de la mano
Pseudoepífisis de la falange media del quinto dedo de la mano
Epífisis pequeña de la falange media del quinto dedo de la mano
Punteado de la epífisis de la falange media del quinto dedo de la mano
Epífisis triangular de la falange media del quinto dedo de la mano
Epífisis ausentes de la falange media del cuarto dedo de la mano
Epífisis en forma de corchete de la falange media del cuarto dedo de la mano
Epífisis en forma de cono de la falange media del cuarto dedo de la mano
Epífisis agrandada de la falange media del cuarto dedo de la mano
Fragmentación de la epífisis de la falange media del cuarto dedo de la mano
Epífisis irregular de la falange media del cuarto dedo de la mano
Epífisis de marfil de la falange media del cuarto dedo de la mano
Pseudoepífisis de la falange media del cuarto dedo de la mano
Epífisis pequeña de la falange media del cuarto dedo de la mano
Punteado de la epífisis de la falange media del cuarto dedo de la mano
Epífisis triangular de la falange media del cuarto dedo de la mano
Aplasia de la falange proximal del quinto dedo de la mano
Acortamiento de la falange proximal del quinto dedo de la mano
Falange proximal ancha del quinto dedo de la mano
Falange proximal del quinto dedo del pie en forma de bala
Falange proximal curvada del quinto dedo de la mano
Defectos osteolíticos de la falange proximal del quinto dedo de la mano
Esclerosis irregular de la falange proximal del quinto dedo de la mano
Sinfalangismo afectando la falange proximal del quinto dedo de la mano
Falange proximal en forma triangular del quinto dedo de la mano
Sinfalangismo de la falange proximal del quinto dedo con el quinta metacarpiano
Falange proximal del quinto dedo de la mano con forma romboidal o triangular
Quinto dedo de la mano corto
Aplasia del quinto dedo de la mano
Aplasia
hipoplasia de la falange distal del quinto dedo de la mano
Falange distal ancha del quinto dedo de la mano
Falange distal del quinto dedo de la mano en forma de bala
Defectos osteolíticos de la falange distal del quinto de la mano
Esclerosis irregular de la falange distal del quinto dedo de la mano
Sinfalangismo distal
medio del quinto dedo de la mano
Falange distal del quinto dedo de la mano en forma triangular
Aplasia de la falange distal del quinto dedo de la mano
Anomalía de la epífisis de la falange media del cuarto dedo de la mano
Anomalía de la epífisis de la falange proximal del cuarto dedo de la mano
Anomalía de la epífisis de la falange distal del cuarto dedo de la mano
Epífisis ausentes de la falange distal del cuarto dedo de la mano
Epífisis en forma de corchete de la falange distal del cuarto dedo de la mano
Epífisis en forma de cono de la falange distal del cuarto dedo de la mano
Epífisis agrandada de la falange distal del cuarto dedo de la mano
Fragmentación de la epífisis de la falange distal del cuarto dedo de la mano
Epífisis irregular de la falange distal del cuarto dedo de la mano
Epífisis de marfil de la falange distal del cuarto dedo de la mano
Pseudoepífisis de la falange distal del cuarto dedo de la mano
Epífisis pequeña de la falange distal del cuarto dedo de la mano
Punteado de la epífisis de la falange distal del cuarto dedo de la mano
Epífisis triangular de la falange distal del cuarto dedo de la mano
Epífisis ausentes de la falange proximal del cuarto dedo de la mano
Epífisis en forma de corchete de la falange proximal del cuarto dedo de la mano
Epífisis en forma de cono de la falange proximal del cuarto dedo de la mano
Epífisis agrandada de la falange proximal del cuarto dedo de la mano
Fragmentación de la epífisis de la falange proximal del cuarto dedo de la mano
Epífisis irregular de la falange proximal del cuarto dedo de la mano
Epífisis de marfil de la falange proximal del cuarto dedo de la mano
Pseudoepífisis de la falange proximal del cuarto dedo de la mano
Epífisis pequeña de la falange proximal del cuarto dedo de la mano
Punteado de la epífisis de la falange proximal del cuarto dedo de la mano
Epífisis triangular de la falange proximal del cuarto dedo de la mano
Aplasia
hipoplasia del cuarto dedo de la mano
Desviación del cuarto dedo de la mano
Contractura de la articulación del cuarto dedo de la mano
Contractura de la articulación interfalángica distal del cuarto dedo de la mano
Contractura de la articulación interfalángica proximal del cuarto dedo de la mano
Contractura de la articulación metacarpofalángica del cuarto dedo de la mano
Desviación cubital del cuarto dedo de la mano
Desviación radial del cuarto dedo de la mano
Cuarto dedo de la mano corto
Aplasia del cuarto dedo de la mano
Anomalía de la falange distal del cuarto dedo de la mano
Anomalía de la falange media del cuarto dedo de la mano
Anomalía de la falange proximal del cuarto dedo de la mano
Falanges curvadas del cuarto dedo de la mano
Falange distal curvada del cuarto dedo de la mano
Falange media curvada del cuarto dedo de la mano
Falange proximal curvada del cuarto dedo de la mano
Aplasia
hipoplasia de la falange distal del cuarto dedo de la mano
Falange distal corta del cuarto dedo de la mano
Aplasia de la falange distal del cuarto dedo de la mano
Falange distal ancha del cuarto dedo de la mano
Falange media ancha del cuarto dedo de la mano
Ausencia de la falange media del cuarto dedo de la mano
Acortamiento de la falange media del cuarto dedo de la mano
Falange media del cuarto dedo de la mano en forma de bala
Defectos osteolíticos de la falange media del cuarto de la mano
Aplasia de la falange proximal del cuarto dedo de la mano
Aplasia
hipoplasia de la falange media del cuarto dedo de la mano
Aplasia
hipoplasia de la falange proximal del cuarto dedo de la mano
Acortamiento de la falange proximal del cuarto dedo de la mano
Falange distal del cuarto dedo de la mano en forma de bala
Defectos osteolíticos de la falange distal del cuarto de la mano
Esclerosis irregular de la falange distal del cuarto dedo de la mano
Sinfalangismo distal
medio del cuarto dedo de la mano
Falange distal del cuarto dedo de la mano en forma triangular
Esclerosis irregular de la falange media del cuarto dedo de la mano
Sinfalangismo de la falange media del cuarto dedo de la mano
Falange media del cuarto dedo de la mano en forma triangular
Falange proximal ancha del cuarto dedo de la mano
Falange proximal del cuarto dedo del pie en forma de bala
Defectos osteolíticos de la falange proximal del cuarto dedo de la mano
Esclerosis irregular de la falange proximal del cuarto dedo de la mano
Sinfalangismo afectando la falange proximal del cuarto dedo de la mano
Falange proximal en forma triangular del cuarto dedo de la mano
Anomalía de las falanges del tercer dedo de la mano
Desviación del  tercer dedo de la mano
Aplasia
hipoplasia del tercer dedo de la mano
Contractura de la articulación del tercer dedo de la mano
Anomalía de la epífisis del tercer dedo de la mano
Epífisis ausentes de la falange media del tercer dedo de la mano
Epífisis en forma de corchete de la falange media del tercer dedo de la mano
Epífisis en forma de cono de la falange media del tercer dedo de la mano
Epífisis agrandada de la falange media del tercer dedo de la mano
Fragmentación de la epífisis de la falange media del tercer dedo de la mano
Epífisis irregular de la falange media del tercer dedo de la mano
Epífisis de marfil de la falange media del tercer dedo de la mano
Pseudoepífisis de la falange media del tercer dedo de la mano
Epífisis pequeña de la falange media del tercer dedo de la mano
Punteado de la epífisis de la falange media del tercer dedo de la mano
Epífisis triangular de la falange media del tercer dedo de la mano
Anomalía de la epífisis de la falange distal del tercer dedo de la mano
Anomalía de la epífisis de la falange proximal del tercer dedo de la mano
Anomalía de la epífisis de la falange media del tercer dedo de la mano
Epífisis ausentes de la falange distal del tercer dedo de la mano
Epífisis en forma de corchete de la falange distal del tercer dedo de la mano
Epífisis en forma de cono de la falange distal del tercer dedo de la mano
Epífisis agrandada de la falange distal del tercer dedo de la mano
Fragmentación de la epífisis de la falange distal del tercer dedo de la mano
Epífisis irregular de la falange distal del tercer dedo de la mano
Epífisis de marfil de la falange distal del tercer dedo de la mano
Pseudoepífisis de la falange distal del tercer dedo de la mano
Epífisis pequeña de la falange distal del tercer dedo de la mano
Punteado de la epífisis de la falange distal del tercer dedo de la mano
Epífisis triangular de la falange distal del tercer dedo de la mano
Epífisis ausentes de la falange proximal del tercer dedo de la mano
Epífisis en forma de corchete de la falange proximal del tercer dedo de la mano
Epífisis en forma de cono de la falange proximal del tercer dedo de la mano
Epífisis agrandada de la falange proximal del tercer dedo de la mano
Fragmentación de la epífisis de la falange proximal del tercer dedo de la mano
Epífisis irregular de la falange proximal del tercer dedo de la mano
Epífisis de marfil de la falange proximal del tercer dedo de la mano
Pseudoepífisis de la falange proximal del tercer dedo de la mano
Epífisis pequeña de la falange proximal del tercer dedo de la mano
Punteado de la epífisis de la falange proximal del tercer dedo de la mano
Epífisis triangular de la falange proximal del tercer dedo de la mano
Anomalía de la falange distal del tercer dedo de la mano
Anomalía de la falange proximal del tercer dedo de la mano
Braquidactilia tipo A
Braquidactilia tipo A1
Braquidactilia tipo A2
Braquidactilia tipo C
Falanges anchas del quinto dedo de la mano
Falanges del quinto dedo de la mano en forma de bala
Aplasia
hipoplasia de las falanges del quinto dedo de la mano
Esclerosis irregular de la falange del quinto dedo de la mano
Falanges del quinto dedo de la mano en forma triangular
Falange distal del quinto dedo de la mano con forma romboidal o triangular
Aplasia de los dedos de la mano
Dedo de la mano corto
Epífisis ausentes del quinto dedo de la mano
Epífisis en forma de corchete del quinto dedo de la mano
Epífisis en forma de cono del quinto dedo de la mano
Epífisis agrandadas del quinto dedo de la mano
Fragmentación de las epífisis del quinto dedo de la mano
Epífisis irregulares del quinto dedo de la mano
Epífisis de marfil del quinto dedo de la mano
Pseudoepífisis del quinto dedo de la mano
Epífisis pequeña del quinto dedo de la mano
Punteado de la epífisis del quinto dedo de la mano
Epífisis triangular del quinto dedo de la mano
Epífisis ausentes del cuarto dedo de la mano
Epífisis en forma de corchete del cuarto dedo de la mano
Epífisis en forma de cono del cuarto dedo de la mano
Epífisis agrandadas del cuarto dedo de la mano
Fragmentación de las epífisis del cuarto dedo de la mano
Epífisis irregulares del cuarto dedo de la mano
Epífisis de marfil del cuarto dedo de la mano
Pseudoepífisis del cuarto dedo de la mano
Epífisis pequeña del cuarto dedo de la mano
Punteado de la epífisis del cuarto dedo de la mano
Epífisis triangular del cuarto dedo de la mano
Falanges anchas del cuarto dedo de la mano
Falanges del cuarto dedo de la mano en forma de bala
Esclerosis irregular de la falange del cuarto dedo de la mano
Falanges del cuarto dedo de la mano en forma triangular
Aplasia
hipoplasia de las falanges del cuarto dedo de la mano
Epífisis ausentes del tercer dedo de la mano
Epífisis en forma de corchete del tercer dedo de la mano
Epífisis en forma de cono del tercer dedo de la mano
Epífisis agrandada del tercer dedo de la mano
Fragmentación de la epífisis del tercer dedo de la mano
Epífisis irregulares del tercer dedo de la mano
Epífisis de marfil del tercer dedo de la mano
Pseudoepífisis del tercer dedo de la mano
Epífisis pequeña del tercer dedo de la mano
Punteado de la epífisis del tercer dedo de la mano
Epífisis triangular del tercer dedo de la mano
Aplasia
hipoplasia de la falange distal del tercer dedo de la mano
Falange distal ancha del tercer dedo de la mano
Falange distal del tercer dedo de la mano en forma de bala
Defectos osteolíticos de la falange distal del tercer de la mano
Esclerosis irregular de la falange distal del tercer dedo de la mano
Sinfalangismo distal
medio del tercer dedo de la mano
Falange distal del tercer dedo de la mano en forma triangular
Falange distal curvada del tercer dedo de la mano
Aplasia de la falange distal del tercer dedo de la mano
Falange media ancha del tercer dedo de la mano
Falange media del tercer dedo de la mano en forma de bala
Falange media curvada del tercer dedo de la mano
Defectos osteolíticos de la falange media del tercer de la mano
Esclerosis irregular de la falange media del tercer dedo de la mano
Sinfalangismo de la falange media del tercer dedo de la mano
Falange media del tercer dedo de la mano en forma triangular
Aplasia
hipoplasia de la falange media del tercer dedo de la mano
Ausencia de la falange media del tercer dedo de la mano
Acortamiento de la falange media del tercer dedo de la mano
Falanges anchas del tercer dedo de la mano
Falanges del tercer dedo de la mano en forma de bala
Falanges curvadas del tercer dedo de la mano
Defectos osteolíticos de las falanges del tercer dedo de la mano
Esclerosis irregular de la falange del tercer dedo de la mano
Sinfalangismo del tercer dedo de la mano
Falanges del tercer dedo de la mano en forma triangular
Aplasia
hipoplasia de las falanges del tercer dedo de la mano
Falange proximal ancha de la tercera dedo de la mano
Falange proximal del tercer dedo del pie en forma de bala
Falange proximal curvada del tercer dedo de la mano
Defectos osteolíticos de la falange proximal del tercer dedo de la mano
Esclerosis irregular de la falange proximal del tercer dedo de la mano
Sinfalangismo afectando la falange proximal del tercer dedo de la mano
Falange proximal en forma triangular del tercer dedo de la mano
Aplasia
hipoplasia de la falange proximal del tercer dedo de la mano
Aplasia de la falange proximal del tercer dedo de la mano
Acortamiento de la falange proximal del tercer dedo de la mano
Aplasia del tercer dedo de la mano
Tercer dedo de la mano corto
Desviación radial del tercer dedo de la mano
Desviación cubital del  tercer dedo de la mano
Desviación cubital del segundo dedo de la mano
Desviación cubital de los dedos de la manos
Desviación radial del dedo de la mano
Desviación radial del segundo dedo de la mano
Desviación del segundo dedo de la mano
Contractura de la articulación interfalángica distal del tercer dedo de la mano
Contractura de la articulación metacarpofalángica del tercer dedo de la mano
Contractura de la articulación interfalángica proximal del tercer dedo de la mano
Contracturas en las articulaciones de la mano
Sinfalangismo proximal
medio de cuarto dedo de la mano
Sinfalangismo de la falange proximal del cuarto dedo con el cuarto metacarpiano
Sinfalangismo proximal
medio de tercer dedo de la mano
Sinfalangismo de la falange proximal del tercer dedo con el tercer metacarpiano
Desviación de la mano o de los dedos de la mano
Desviación radial de la mano o de los dedos de la mano
Desviación radial de la mano
Desviación cubital de la mano
Epífisis ausentes del segundo dedo de la mano
Epífisis en forma de corchete del segundo dedo de la mano
Epífisis en forma de cono del segundo dedo de la mano
Epífisis agrandadas del segundo dedo de la mano
Fragmentación de las epífisis del segundo dedo de la mano
Epífisis irregulares del segundo dedo de la mano
Epífisis de marfil del segundo dedo de la mano
Pseudoepífisis del segundo dedo de la mano
Epífisis pequeña del segundo dedo de la mano
Punteado de la epífisis del segundo dedo de la mano
Epífisis triangular del segundo dedo de la mano
Anomalía de la epífisis de la falange distal del segundo dedo de la mano
Anomalía de la epífisis de la falange media del segundo dedo de la mano
Anomalía de la epífisis de la falange proximal del segundo dedo de la mano
Epífisis ausentes de la falange distal del segundo dedo de la mano
Epífisis en forma de corchete de la falange distal del segundo dedo de la mano
Epífisis en forma de cono de la falange distal del segundo dedo de la mano
Epífisis agrandada de la falange distal del segundo dedo de la mano
Fragmentación de la epífisis de la falange distal del segundo dedo de la mano
Epífisis irregular de la falange distal del segundo dedo de la mano
Epífisis de marfil de la falange distal del segundo dedo de la mano
Pseudoepífisis de la falange distal del segundo dedo de la mano
Epífisis pequeña de la falange distal del segundo dedo de la mano
Punteado de la epífisis de la falange distal del segundo dedo de la mano
Epífisis triangular de la falange distal del segundo dedo de la mano
Epífisis ausentes de la falange media del segundo dedo de la mano
Epífisis en forma de corchete de la falange media del segundo dedo de la mano
Epífisis en forma de cono de la falange media del segundo dedo de la mano
Epífisis agrandada de la falange media del segundo dedo de la mano
Fragmentación de la epífisis de la falange media del segundo dedo de la mano
Epífisis irregular de la falange media del segundo dedo de la mano
Epífisis de marfil de la falange media del segundo dedo de la mano
Pseudoepífisis de la falange media del segundo dedo de la mano
Epífisis pequeña de la falange media del segundo dedo de la mano
Punteado de la epífisis de la falange media del segundo dedo de la mano
Epífisis triangular de la falange media del segundo dedo de la mano
Epífisis ausentes de la falange proximal del segundo dedo de la mano
Epífisis en forma de corchete de la falange proximal del segundo dedo de la mano
Epífisis en forma de cono de la falange proximal del segundo dedo de la mano
Epífisis agrandada de la falange proximal del segundo dedo de la mano
Fragmentación de la epífisis de la falange proximal del segundo dedo de la mano
Epífisis irregular de la falange proximal del segundo dedo de la mano
Epífisis de marfil de la falange proximal del segundo dedo de la mano
Pseudoepífisis de la falange proximal del segundo dedo de la mano
Epífisis pequeña de la falange proximal del segundo dedo de la mano
Punteado de la epífisis de la falange proximal del segundo dedo de la mano
Epífisis triangular de la falange proximal del segundo dedo de la mano
Aplasia del segundo dedo de la mano
Segundo dedo de la mano corto
Contractura en flexión del segundo dedo de la mano
Contractura de la articulación interfalángica distal del segundo dedo de la mano
Contractura de la articulación metacarpofalángica del segundo dedo de la mano
Contractura de la articulación interfalángica proximal del segundo dedo de la mano
Anomalía de las falanges del segundo dedo de la mano
Anomalía de la falange distal del segundo dedo de la mano
Anomalía de la falange media del segundo dedo de la mano
Anomalía de la falange proximal del segundo dedo de la mano
Sinfalangismo del segundo dedo de la mano
Falanges del segundo dedo de la mano en forma triangular
Falanges anchas del segundo dedo de la mano
Falanges del segundo dedo de la mano en forma de bala
Falanges curvas del segundo dedo de la mano
Defectos osteolíticos de las falanges del segundo de la mano
Esclerosis irregular de la falange del segundo dedo de la mano
Aplasia
hipoplasia de las falanges del segundo dedo de la mano
Anomalía de la línea del cabello
Proyección de pelo del cuero cabelludo en el lateral de la mejilla
Hipoplasia de la faringe
Ausencia de tibia
Aplasia
hipoplasia de la falange distal del segundo dedo de la mano
Falange distal ancha del segundo dedo de la mano
Falange distal del segundo dedo de la mano en forma de bala
Falange distal curvada del segundo dedo de la mano
Defectos osteolíticos de la falange distal del segundo de la mano
Esclerosis irregular de la falange distal del segundo dedo de la mano
Sinfalangismo distal
medio del segundo dedo de la mano
Falange distal del segundo dedo de la mano en forma triangular
Aplasia de la falange distal del segundo dedo de la mano
Falange distal corta del segundo dedo de la mano
Aplasia
hipoplasia de la falange media del segundo dedo de la mano
Falange media ancha del segundo dedo de la mano
Falange media del segundo dedo de la mano en forma de bala
Falange media curvada del segundo dedo de la mano
Defectos osteolíticos de la falange media del segundo de la mano
Esclerosis irregular de la falange media del segundo dedo de la mano
Sinfalangismo de la falange media del segundo dedo de la mano
Falange media del segundo dedo de la mano en forma triangular
Ausencia de la falange media del segundo dedo de la mano
Acortamiento de la falange media del segundo dedo de la mano
Sinfalangismo proximal
medio del segundo dedo de la mano
Aplasia
hipoplasia de la falange proximal del segundo dedo de la mano
Falange proximal ancha del segundo dedo de la mano
Falange proximal del segundo dedo del pie en forma de bala
Falange proximal curvada del segundo dedo de la mano
Defectos osteolíticos de la falange proximal del segundo dedo de la mano
Esclerosis irregular de la falange proximal del segundo dedo de la mano
Sinfalangismo que afecta a la falange proximal del segundo dedo de la mano
Falange proximal en forma triangular del segundo dedo de la mano
Schwannoma vestibular
Schwannoma vestibular bilateral
Schwannoma vestibular unilateral
Anomalía del viii par craneal o nervio vestíbulococlear
Astrocitoma
Schwannoma periférico
Hamartoma de retina
Neurofibromas ocasionales
Aplasia de la falange proximal del segundo dedo de la mano
Acortamiento de la falange proximal del segundo dedo de la mano
Sinfalangismo de la falange proximal del segundo dedo con la segunda metacarpiana
Anomalía de las epífisis del pulgar
Contractura en flexión del pulgar
Aplasia
hipoplasia del pulgar
Anomalía de la falange del pulgar
Desviación
desplazamiento del pulgar
Duplicación completa de la falange distal del pulgar
Duplicación completa de la falange proximal del pulgar
Duplicación del primer metacarpiano
Falange distal bífida del pulgar
Duplicación de la falange distal del pulgar
Duplicación de la falange proximal del pulgar
Falange proximal del pulgar bífido
Duplicación completa del primer metacarpiano
Primer metacarpiano bífido
Anomalía de la falange distal del pulgar
Anomalía de la falange proximal del pulgar
Emplazamiento distal del pulgar
Desplazamiento proximal del pulgar
Contracturas de la articulación carpometacarpiana del pulgar
Contracturas de la articulación metacarpofalángica del pulgar
Contracturas de la articulación interfalángica del dedo pulgar
Aplasia
hipoplasia de la falange proximal del pulgar
Falange proximal ancha del pulgar
Falange proximal del pulgar en forma de bala
Falange proximal curvada del pulgar
Defecto osteolítico de la falange proximal del pulgar
Esclerosis irregular de la falange proximal del pulgar
Sinostosis de la falange del pulgar
Falange proximal del pulgar en forma triangular
Ausencia de la falange proximal del pulgar
Acortamiento de la falange proximal del pulgar
Sinostosis de la falange proximal del pulgar con la primera metacarpiana
Aplasia
hipoplasia de la falange distal del pulgar
Falange distal ancha del pulgar
Falange distal del pulgar en forma de bala
Falange distal curvada del pulgar
Defecto osteolítico de la falange distal del pulgar
Esclerosis irregular de la falange distal del pulgar
Falange distal del pulgar en forma triangular
Aplasia de la falange distal del pulgar de la mano
Falange distal corta del pulgar
Falange del pulgar en forma de bala
Falange curvada del pulgar
Defecto osteolítico de la falange del pulgar
Esclerosis irregular de la falange del pulgar
Sinfalangismo del pulgar
Falange del pulgar en forma triangular
Aplasia
hipoplasia de las falanges del pulgar
Ausencia parcial del pulgar
Acortamiento de la falange del pulgar
Anomalía de la epífisis de la falange distal del pulgar
Anomalía de la epífisis de la falange proximal del pulgar
Epífisis ausentes de la falange proximal del pulgar
Epífisis en forma de corchete de la falange proximal del pulgar
Epífisis en forma de cono de la falange proximal del pulgar
Epífisis agrandada de la falange proximal del pulgar
Fragmentación de la epífisis de la falange proximal del pulgar
Epífisis irregular de la falange proximal del pulgar
Epífisis de marfil de la falange proximal del pulgar
Pseudoepífisis de la falange proximal del pulgar
Epífisis pequeña de la falange proximal del pulgar
Punteado de la epífisis de la falange proximal del pulgar
Epífisis triangular de la falange proximal del pulgar
Epífisis ausentes de la falange distal del pulgar
Epífisis en forma de corchete de la falange distal del pulgar
Epífisis en forma de cono de la falange distal del pulgar
Epífisis agrandada de la falange distal del pulgar
Fragmentación de la epífisis de la falange distal del pulgar
Epífisis irregular de la falange distal del pulgar
Epífisis de marfil de la falange distal del pulgar
Pseudoepífisis de la falange distal del pulgar
Epífisis pequeña de la falange distal del pulgar
Punteado de la epífisis de la falange distal del pulgar
Epífisis triangular de la falange distal del pulgar
Epífisis ausentes del pulgar
Epífisis en froma de corchetes del pulgar
Epífisis en forma de cono del pulgar
Epífisis de pulgar agrandada
Fragmentación de la epífisis del pulgar
Epífisis del pulgar irregulares
Epífisis de marfil del pulgar
Pseudoepífisis del pulgar
Epífisis del pulgar pequeña
Punteado de epífisis pulgar
Epífisis triangulares del pulgar
Contractura de las articulaciones interfalángicas distales de los dedos de la mano
Defectos osteolíticos de los huesos de la mano
Sinostosis comprometiendo huesos de los dedos de la manos
Sinostosis metacarpiano
Sinostosis de los huesos carpianos
Sinostosis comprometiendo el primer metacarpiano
Linfocitosis crónica del líquido cefalorraquídeo
Sinostosis comprometiendo el segundo metacarpiano
Sinostosis comprometiendo el tercer metacarpiano
Sinostosis comprometiendo el cuarto metacarpiano
Sinostosis comprometiendo del quinto metacarpiano
Aumento de interferón alfa en líquido cefaloraquídeo
Sabañones
Hemangioblastoma de retina
Hemangioblastoma espinal
Anormalidad del epidídimo
Cistoadenoma papilar del epidídimo
Nódulos subependimarios
Tubérculos corticales
Astrocitoma subependimario de células gigantes
Máculas hipomelanóticas
Adenoma sebáceo
Placa de piel endurecida
Fositas o muescas  del esmalte dental
Anormalidad de la región subungueal
Fibromas subungueales
Neoplasia de vejiga
Neoplasia renal
Parches acromáticos de retina
Tumor de músculo estriado
Rabdomioma cardíaco
Rabdomioma
Hamartoma cerebral
Neurofibroma plexiforme
Glioma
Glioma óptico
Neurofibromas espinales
Seudoartrosis tibial
Nódulos de Lisch
Anomalía del antihelix
Hpoplasia del antihelix
Aplasia de la glándula parótida
Nefroesclerosis
Rigidez en hombros
Distiquiasis
Anomalía de la duramadre de la médula espinal
Quiste espinal aracnoideo
Tabique nasal grueso
Hirsutismo lumbosacra
Lóbulo de la oreja grande
Aplasia del músculo pectoral mayor
Hendidura de la base del cráneo
Singnatia fibrosa
Anquilobléfaron
Pterigium poplíteo
Pterigión intercrural
Pliegue cutáneo piramidal que se extiende desde la base hasta la parte superior de las uñas
Pterigion colli
Pterigión antecubital
Fisura anterior de los cuerpos vertebrales
Arrugas faciales
Dolor en las extremidades
Columela baja colgante
Aplasia
hipoplasia de las falanges de la mano
Falanges anchas de la mano
Falanges en forma de bala de la mano
Falanges curvadas de la mano
Defectos osteolíticos de las falanges de la mano
Esclerosis irregular de la falange del dedo de la mano
Sinfalangismo que afecta a las falanges de la mano
Falanges de la mano en forma triangular
Anillo de constricción amniótico
Adactilia
Ausencia de pulgar
Pulgar corto
Sindactilia de dedos 3-4 del pie
Cuernos ilíacos
Signo de Lester
Aplasia
hipoplasia del bíceps
Aplasia del bíceps del brazo
Aplasia
hipoplasia del tríceps
Aplasia del tríceps
Aplasia
hipoplasia de la musculatura del muslo
Aplasia
hipoplasia de los cuádriceps
Aplasia del cuádriceps
Absceso perianal
Hemisacro
Sacro bífido
Teratoma
Teratoma presacro
Anomalía branquial
Fístula branquial
Quiste branquial
Colesteatoma
Bocio eutiroideo
Bazos supernumerarios
Diabetes materna
Aplasia de las falanges de la mano
Acortamiento de las falanges de los dedos
Reducción del número de dientes
Falla cardíaca congestiva de bajo gasto
Diabetes insípida nefrogénica
Anomalía de las diáfisis de los miembros superiores
Anomalía de metáfisis del miembro superior
Anomalía de las articulaciones de los miembros superiores
Anomalía del codo
Amelia de miembros superiores
Focomelia miembro superior
Peromelia de miembro superior
Aplasia
hipoplasia de las extremidades
Hipocrecimiento de la extremidad inferior
Aplasia de los huesos de los miembros inferiores
Amelia de miembros inferiores
Focomelia de la extremidad inferior
Peromelia de la extremidad inferior
Hipocrecimiento del antebrazo
Aplasia de los huesos del antebrazo
Aplasia de los huesos de las extremidades superiores
Reducción de miembro superior
Aplasia de los huesos de las extremidades
Hipocrecimiento de miembro
Amelia
Peromelia
Focomelia
Neuropatía periférica
Mononeuropatía
Anomalía de la falange distal de dedos de la mano
Anomalía de las falanges medias de la mano
Anomalía de las falanges proximales de la mano
Aplasia
hipoplasia de las falanges distales de la mano
Falanges distales de los dedos de la mano anchas
Falanges distales de la mano en forma de bala
Falanges distales curvadas de la mano
Defectos osteolíticos de las falanges distales de la mano
Esclerosis irregular de la falange distal del dedo de la mano
Aplasia
hipoplasia de las falanges medias de la mano
Falanges medias anchas de los dedos de las manos
Falanges medias de la mano en forma de bala
Falanges medias curvadas de la mano
Defectos osteolíticos de las falanges medias de la mano
Esclerosis irregular de la falange media del dedo de la mano
Sinfalangismo de la falange media del dedo de la mano
Falanges medias de la mano en forma triangular
Aplasia
hipoplasia de las falanges proximales de la mano
Falanges proximales anchas de la mano
Falanges proximales de la mano en forma de bala
Falanges proximales curvas de la mano
Defectos osteolíticos de las falanges proximales de la mano
Esclerosis irregular de la falange proximal del dedo de la mano
Sinfalangismo que afecta a las falanges proximales de la mano
Falanges proximales de la mano en forma triangular
Falanges distales de la mano en forma triangular
Ataxia cerebelosa asociada a marcha cuadrúpeda
Disminución en las circunvoluciones corticales
Falanges distales anchas de todos los dedos
Aplasia de las falanges distales de la mano
Falange distal del dedo de la mano corta
Duplicación de la falange distal de la mano
Falanges distales cónicas
Trichorrexis nodosa
Anormalidad de la pigmentación del pelo
Anormalidad del vello sexual secundario
Hirsutismo localizado
Inserción anterior del cabello posterior
Arcos superciliares subdesarrollados
Anotia
Telangiectasia de la oreja
Orejas gruesas
Anomalía de la cruz del hélix
Anomalía del antitragus
Rama del hélix horizontal
Desarrollo insuficiente del crus del hélix
Crus del hélix prominente
Sordera unilateral
Oreja arrugada
Hendidura del hélix
Nódulo conjuntival
Hélix prominente
Hélix delgado
Aplasia
hipoplasia de los lóbulos de las orejas
Lóbulo de la oreja unido
Pliegues anteriores en el lóbulo de la oreja
Lóbulo de la oreja evertido
Aplasia de los huesecillos del oído medio
Anomalía del hueso temporal
Anomalía del trago
Aplasia
hipoplasia del trago
Ciclopia
Asimetría corneal
Anisocoria
Membrana pupilar persistente
Ectopia de pupila
Retinoblastoma
Nevo de Ota
Anomalía de Duane
Persistencia de la arteria hialoidea
Aplasia
hipoplasia de la nariz
Aumento del lagrimeo
Aplasia de la nariz
Alas nasales gruesas
Anomalía de la columela
Asimetría de las fosas nasales
Narinas aumentadas
Narina única
Narinas estrechas
Narina supernumeraria
Aplasia
hipoplasia del tabique nasal
Tabique nasal estrecho
Hirsutismo facial
Mejillas hundidas
Aplasia mandibular
Asimetría de la mandíbula
Asimetría de la boca
Duplicación de falange del pulgar
Duplicación completa de la falange del pulgar
Duplicación parcial de la falange del pulgar
Duplicación de falange de segundo dedo de la mano
Polidactilia que afecta el segundo dedo de la mano
Duplicación de la falange proximal del segundo dedo de la mano
Duplicación de la falange distal del segundo dedo de la mano
Duplicación de la falange media del segundo dedo de la mano
Duplicación completa de la falange distal del segundo dedo de la mano
Duplicación parcial de la falange distal del segundo dedo de la mano
Duplicación completa de la falange media del segundo dedo de la mano
Duplicación parcial de la falange media del segundo dedo de la mano
Duplicación completa de la falange proximal del segundo dedo de la mano
Duplicación parcial de la falange proximal del segundo dedo de la mano
Duplicación parcial de las falanges del segundo dedo de la mano
Duplicación completa de las falanges del segundo dedo de la mano
Polidactilia que afecta el tercer dedo de la mano
Duplicación de falange del tercer dedo de la mano
Duplicación completa de las falanges del tercer dedo de la mano
Duplicación parcial de las falanges del tercer dedo de la mano
Duplicación de la falange distal del tercer dedo de la mano
Duplicación de la falange media del tercer dedo de la mano
Duplicación de la falange proximal del tercer dedo de la mano
Duplicación completa de la falange distal del tercer dedo de la mano
Duplicación completa de la falange media del tercer dedo de la mano
Duplicación completa de la falange proximal del tercer dedo de la mano
Duplicación parcial de la falange distal del tercer dedo de la mano
Duplicación parcial de la falange media del tercer dedo de la mano
Duplicación parcial de la falange proximal del tercer dedo de la mano
Polidactilia que afecta el cuarto dedo de la mano
Duplicación de falange de cuarto dedo de la mano
Duplicación completa de las falanges del cuarto dedo de la mano
Duplicación parcial de las falanges del cuarto dedo de la mano
Duplicación de la falange distal del cuarto dedo de la mano
Duplicación de la falange media del cuarto dedo de la mano
Duplicación de la falange proximal del cuarto dedo de la mano
Duplicación completa de la falange distal del cuarto dedo de la mano
Duplicación completa de la falange media del cuarto dedo de la mano
Duplicación completa de la falange proximal del cuarto dedo de la mano
Duplicación parcial de la falange distal del cuarto dedo de la mano
Duplicación parcial de la falange media del cuarto dedo de la mano
Duplicación parcial de la falange proximal del cuarto dedo de la mano
Duplicación de falange de quinto dedo de la mano
Duplicación completa de las falanges del quinto dedo de la mano
Duplicación parcial de las falanges del quinto dedo de la mano
Duplicación de la falange distal del quinto dedo de la mano
Duplicación de la falange media del quinto dedo de la mano
Duplicación de la falange proximal del quinto dedo de la mano
Duplicación completa de la falange distal del quinto dedo de la mano
Duplicación completa de la falange media del quinto dedo de la mano
Duplicación completa de la falange proximal del quinto dedo de la mano
Duplicación parcial de la falange distal del quinto dedo de la mano
Duplicación parcial de la falange media del quinto dedo de la mano
Duplicación parcial de la falange proximal del quinto dedo de la mano
Duplicación de la falange de la mano
Duplicación completa de las falanges de la mano
Duplicación parcial de la falange de la mano
Duplicación completa de las falanges proximales de la mano
Duplicación completa de las falanges distales de la mano
Duplicación completa de las falanges medias de la mano
Duplicación parcial de las falanges proximales de la mano
Duplicación parcial de las falanges distales de la mano
Duplicación parcial de las falanges medias de la mano
Duplicación de la falange proximal de la mano
Duplicación de la falange media de la mano
Anomalía del primer metacarpiano
Anomalía del segundo metacarpiano
Anomalía del tercer metacarpiano
Anomalía del cuarto metacarpiano
Anomalía del quinto metacarpiano
Anomalía de la epífisis del primer metacarpiano
Epífisis ausentes del primer metacarpiano
Epífisis en forma de corchete del primer metacarpiano
Epífisis en forma de cono del primer metacarpiano
Epífisis agrandada del primer metacarpiano
Fragmentación de la epífisis del primer metacarpiano
Epífisis irregular del primer metacarpiano
Epífisis de marfil del primer metacarpiano
Pseudoepífisis del primer metacarpiano
Epífisis pequeña del primer metacarpiano
Punteado epifisiario del primer metacarpiano
Epífisis triangular del primer metacarpiano
Aplasia
hipoplasia del primer metacarpiano
Primer metacarpiano ancho
Primer metacarpiano en forma de bala
Primer metacarpiano curvado
Defectos osteolíticos del primer metacarpiano
Esclerosis irregular del primer metacarpiano
Primer metacarpiano en forma triangular
Primer metacarpiano corto
Aplasia del primer metacarpiano
Aplasia
hipoplasia del segundo metacarpiano
Aplasia del segundo metacarpiano
Segundo metacarpiano corto
Aplasia
hipoplasia del tercer metacarpiano
Aplasia del tercer metacarpiano
Tercer metacarpiano corto
Aplasia
hipoplasia del cuarto metacarpiano
Aplasia del cuarto metacarpiano
Cuarto metacarpiano corto
Aplasia
hipoplasia del quinto metacarpiano
Aplasia del quinto metacarpiano
Quinto metacarpiano corto
Aplasia de los huesos metacarpianos
Metacarpiano corto
Desviación
desplazamiento del dedo gordo del pie
Anomalía de la falange proximal del dedo gordo del pie
Anomalía de la falange distal del dedo gordo del pie
Anomalía del primer metatarsiano
Dedo gordo del pie ancho
Anomalía de las epífisis del dedo gordo del pie
Anomalía de las falanges del dedo gordo del pie
Aplasia
hipoplasia de las falanges del dedo gordo del pie
Falange del dedo gordo del pie ancha
Falange del dedo gordo del pie en forma de bala
Falange del dedo gordo del pie curvada
Defectos osteolíticos de las falanges del dedo gordo del pie
Esclerosis irregular de la falange del dedo gordo del pie
Sinfalangismo afectando las falanges del dedo gordo del pie
Falanges del dedo gordo del pie en forma triangular
Duplicación de falange del dedo gordo del pie
Aplasia
hipoplasia del primer metatarso
Primer metatarsiano ancho
Primer metatarsiano en forma de bala
Primer metatarsiano curvado
Defectos osteolíticos del primer metatarsiano
Esclerosis irregular del primer metatarsiano
Sinostosis comprometiendo el primer metatarsiano
Primer metatarsiano en forma triangular
Duplicación del primer metatarsiano
Aplasia
hipoplasia de la falange distal del dedo gordo del pie
Falange distal ancha del dedo gordo del pie
Falange distal del dedo gordo del pie en forma de bala
Falange distal curvada del dedo gordo del pie
Defectos osteolíticos de la falange distal del dedo gordo del pie
Esclerosis irregular de la falange distal del dedo gordo del pie
Sinfalangismo afectando la falange distal del dedo gordo del pie
Falange distal del dedo gordo del pie en forma triangular
Duplicación de la falange distal del dedo gordo del pie
Aplasia
hipoplasia de la falange proximal del dedo gordo del pie
Falange proximal ancha del dedo gordo del pie
Falange proximal del dedo gordo del pie  en forma de bala
Falange proximal curvada del dedo gordo del pie
Defectos osteolíticos de la falange proximal del dedo gordo del pie
Esclerosis irregular de la falange proximal del dedo gordo del pie
Sinfalangismo afectando la falange proximal del dedo gordo del pie
Falange proximal del dedo gordo del pie en forma triangular
Duplicación de la falange proximal del dedo gordo del pie
Duplicación completa de la falange proximal del dedo gordo del pie
Duplicación parcial de la falange proximal del dedo gordo del pie
Duplicación completa de la falange distal del dedo gordo del pie
Duplicación parcial de la falange distal del dedo gordo del pie
Duplicación completa del primer metatarsiano
Duplicación parcial del primer metatarsiano
Duplicación completa de la falange del dedo gordo del pie
Duplicación parcial de las falanges del dedo gordo del pie
Aplasia de la falange distal del dedo gordo del pie
Falange distal del dedo gordo del pie corta
Primer metatarsiano ausente
Primer metatarsiano corto
Aplasia de la falange proximal del dedo gordo del pie
Acortamiento de la falange proximal del dedo gordo del pie
Dedo gordo del pie corto
Aplasia de las falanges del dedo gordo del pie
Acortamiento de la falange del dedo gordo del pie
Polidactilia en pie mesoaxial
Ausencia de la epífisis del dedo gordo del pie
Epífisis en forma de corchete del dedo gordo del pie
Epífisis en forma de cono del dedo gordo del pie
Epífisis agrandadas del dedo gordo del pie
Fragmentación de las epífisis del dedo gordo del pie
Epífisis irregulares del dedo gordo del pie
Epífisis de marfil del dedo gordo del pie
Pseudoepífisis del dedo gordo del pie
Epífisis pequeñas del dedo gordo del pie
Punteado de las epífisis del dedo gordo del pie
Epífisis triangular del dedo gordo del pie
Anomalía de la epífisis de la falange distal del dedo gordo del pie
Anomalía de la epífisis del primer metatarsiano
Anomalía de la epífisis de la falange proximal del dedo gordo del pie
Epífisis ausentes de la falange proximal del dedo gordo del pie
Epífisis en forma de corchete de la falange proximal del dedo gordo del pie
Epífisis en forma de cono de la falange proximal del dedo gordo del pie
Epífisis agrandada de la falange proximal del dedo gordo
Fragmentación de la epífisis de la falange proximal del dedo gordo del pie
Epífisis irregular de la falange proximal del dedo gordo del pie
Epífisis de marfil de la falange proximal del dedo gordo del pie
Pseudoepífisis de la falange proximal del dedo gordo del pie
Epífisis pequeña de la falange proximal del dedo gordo del pie
Punteado de la epífisis de la falange proximal del dedo gordo del pie
Epífisis triangular de la falange proximal del dedo gordo del pie
Epífisis ausentes de la falange distal del dedo gordo del pie
Epífisis en forma de corchete de la falange distal del dedo gordo del pie
Epífisis en forma de cono de la falange distal del dedo gordo del pie
Epífisis agrandada de la falange distal del dedo gordo del pie
Fragmentación de la epífisis de la falange distal del dedo gordo del pie
Epífisis irregular de la falange distal del dedo gordo del pie
Epífisis de marfil de la falange distal del dedo gordo del pie
Pseudoepífisis de la falange distal del dedo gordo del pie
Epífisis pequeña de la falange distal del dedo gordo del pie
Punteado de la epífisis de la falange distal del dedo gordo del pie
Epífisis triangular de la falange distal del dedo gordo del pie
Epífisis ausente del primer metatarsiano
Epífisis en forma de corchete del primer metatarsiano
Epífisis en forma de cono del primer metatarsiano
Epífisis agrandada del primer metatarsiano
Fragmentación de la epífisis del primer metatarsiano
Epífisis irregular del primer metatarsiano
Epífisis de marfil del primer metatarpiano
Pseudoepífisis del primer metatarsiano
Epífisis pequeña del primer metatarsiano
Punteado de la epífisis del primer metatarsiano
Epífisis triangular del primer metatarsiano
Anomalía de las epífisis de los dedos de los pies
Anomalía de las falanges de los dedos de los pies
Epífisis ausentes de los dedos del pie
Epífisis en forma de corchetes de los dedos de los pies
Epífisis en forma de cono de los dedos de los pies
Epífisis agrandada de los dedos de los pies
Fragmentación de las epífisis de los dedos de los pies
Epífisis irregulares de los dedos de los pies
Epífisis de marfil de los dedos de los pies
Pseudoepífisis de los dedos de los pies
Epífisis pequeñas de los dedos de los pies
Punteado epifisiario de las falanges del dedo del pie
Epífisis triangular de los dedos de los pies
Aplasia
hipoplasia de las falanges de los dedos de los pies
Falanges anchas de los dedos del pie
Falanges de los dedos del pie en forma de bala
Falange curvada del dedo del pie
Defectos osteolíticos de las falanges de los dedos de los pies
Esclerosis irregular de la falange del dedo del pie
Sinfalangismo que afecta a las falanges de los dedos de los pies
Falanges de los dedos de los pies en forma triangular
Duplicación de la falange de los dedos del pie
Anomalía de las falanges distales de los dedos de los pies
Anomalía de las falanges medias de los dedos de los pies
Anomalía de falange proximal del dedo del pie
Aplasia
hipoplasia de las falanges distales de los dedos de los pies
Falanges distales anchas de los dedos del pie
Falange distal del dedo del pie en forma de bala
Falange distal curvada del dedo del pie
Defectos osteolíticos de las falanges distales de los pies
Esclerosis irregular de la falange distal del dedo del pie
Sinfalangismo que afecta a las falanges distales de los dedos de los pies
Falanges distales del pie en forma triangular
Duplicación de la falange distal de algún dedo del pie
Aplasia
hipoplasia de las falanges medias de los dedos de los pies
Falanges medias anchas de los dedos de los pies
Falanges medias de los dedos del pie en forma de bala
Falange media curvada de dedo del pie
Defectos osteolíticos de las falanges medias de los pies
Esclerosis irregular de la falange media del dedo del pie
Sinfalangismo que afecta a las falanges medias de los dedos de los pies
Falanges medias de los dedos de los pies en forma triangular
Duplicación de falange media del dedo del pie
Aplasia
hipoplasia de la falange proximal del dedo del pie
Falange proximal ancha de los pies
Falanges proximales de los dedos del pie en forma de bala
Falange proximal curvada del dedo del pie
Defecto osteolítico de la falange proximal del primer dedo del pie
Esclerosis irregular de la falange proximal del dedo del pie
Sinfalangismo que afecta a las falanges proximales de los dedos de los pies
Falanges proximales de los pies en forma triangular
Duplicación de la falange proximal de dedo del pie
Contractura en flexión del dedo gordo del pie
Contractura de la articulación tarsometatarsiana del dedo gordo del pie
Contractura de la articulación interfalángica del dedo gordo del pie
Contracturas de la articulación metatarsofalángica del dedo gordo del pie
Deformidad estructural del pie
Anomalía de la epífisis del segundo metacarpiano
Pseudoepífisis del segundo metacarpiano
Anomalía de la epífisis del tercer metacarpiano
Pseudoepífisis del tercer metacarpiano
Anomalía de la epífisis del cuarto metacarpiano
Pseudoepífisis del cuarto metacarpiano
Anomalía de la epífisis del quinto metacarpiano
Pseudoepífisis del quinto metacarpiano
Epífisis ausentes de las falanges de la mano
Epífisis en forma de corchete de las falanges de la mano
Epífisis en forma de cono de las falanges de la mano
Epífisis agrandada de las falanges de la mano
Fragmentación de las epífisis de las falanges de la mano
Epífisis irregulares de las falanges de la mano
Epífisis de marfil de las falanges de la mano
Pseudoepífisis de las falanges de la mano
Epífisis pequeñas de las falanges de la mano
Punteado epifisiario de las falanges de los dedos
Epífisis triangulares de las falanges de la mano
Aplasia de las falanges medias de la mano
Acortamiento de la falange proximal del dedo de la mano
Aplasia de las falanges proximales de la mano
Anomalía de la epífisis de la falange distal de dedo de la mano
Anomalía de las epífisis de las falanges medias de la mano
Anomalía de las epífisis de las falanges proximales de la mano
Epífisis ausentes de las falanges distales de la mano
Epífisis en forma de corchete de las falanges distales de la mano
Epífisis en forma de cono de las falanges distales de la mano
Epífisis agrandada de las falanges distales de la mano
Fragmentación de las epífisis de las falanges distales de la mano
Epífisis irregulares de las falanges distales de la mano
Epífisis de marfil de las falanges distales de la mano
Pseudoepífisis de las falanges distales de la mano
Epífisis pequeñas de las falanges distales de la mano
Punteado de las epífisis de las falanges distales de la mano
Epífisis triangulares de las falanges distales de la mano
Epífisis ausentes de las falanges medias de la mano
Epífisis en forma de corchete de las falanges medias de la mano
Epífisis en forma de cono de las falanges medias de la mano
Epífisis agrandada de las falanges medias de la mano
Fragmentación de las epífisis de las falanges medias de la mano
Epífisis irregulares de las falanges medias de la mano
Epífisis de marfil de las falanges medias de la mano
Pseudoepífisis de las falanges medias de la mano
Epífisis pequeñas de las falanges medias de la mano
Punteado de las epífisis de las falanges medias de la mano
Epífisis triangulares de las falanges medias de la mano
Epífisis ausentes de las falanges proximales de la mano
Epífisis en forma de corchete de las falanges proximales de la mano
Epífisis en forma de cono de las falanges proximales de la mano
Epífisis agrandada de las falanges proximales de la mano
Fragmentación de las epífisis de las falanges proximales de la mano
Epífisis irregulares de las falanges proximales de la mano
Epífisis de marfil de las falanges proximales de la mano
Pseudoepífisis de las falanges proximales de la mano
Epífisis pequeñas de las falanges proximales de la mano
Punteado de las epífisis de las falanges proximales de la mano
Epífisis triangulares de las falanges proximales de la mano
Estomatitis
Hendidura de labio inferior
Bermellón del labio inferior fino
Hiperpigmentación intraoral
Sinequia oral
Anomalía de las glándulas salivales
Anomalía de las glándulas salivares submandibulares
Anomalía de las glándulas salivares sublinguales
Hendidura de la cresta alveolar
Paladar duro corto
Pliegues del paladar prominentes
Ausencia de úvula
Aplasia
hipoplasia de la úvula
Fístula del paladar
Aplasia
hipoplasia de la lengua
Anquiloglosia
Lengua bífida
Lengua lisa
Anomalía de la dentina
Voz con tono anormalmente bajo
Mielodisrafia
Tumor de la médula espinal
Anomalía de las meninges de la médula espinal
Divertículo meníngeo espinal
Ausencia del sacro
Tórax corto
Estridor
Ausencia de esternón
Esternón bífido
Quilotórax
Aplasia
hipoplasia de los senos
Asimetría mamaria
Hipertrofia mamaria
Telarquia prematura
Aplasia
hipoplasia del diafragma
Anomalía de Ebstein de la válvula tricúspide
Aplasia escapular
Aplasia
hipoplasia de la musculatura de la pared abdominal
Anomalía del segundo dedo del pie
Anomalía del tercer dedo del pie
Anomalía del cuarto dedo del pie
Anomalía del quinto dedo del pie
Anomalía de las epífisis del segundo dedo del pie
Anomalía de la falange del segundo dedo del pie
Aplasia
hipoplasia del segundo dedo del pie
Desviación
desplazamiento del segundo dedo del pie
Contractura en flexión del segundo dedo del pie
Polidactilia que afecta el segundo dedo del pie
Anomalía de la epífisis del tercer dedo del pie
Anomalía de las falanges del tercer dedo del pie
Aplasia
hipoplasia del tercer dedo del pie
Desviación
desplazamiento del tercer dedo del pie
Contractura en flexión del tercer dedo del pie
Polidactilia que afecta el tercer dedo del pie
Anomalía de las epífisis del cuarto dedo del pie
Anomalía de las falanges del cuarto dedo del pie
Aplasia
hipoplasia del cuarto dedo del pie
Desviación
desplazamiento del cuarto dedo del pie
Contractura en flexión del cuarto dedo del pie
Polidactilia que afecta el cuarto dedo del pie
Anomalía de las epífisis del quinto dedo del pie
Anomalía de las falanges del quinto dedo del pie
Aplasia
hipoplasia del quinto dedo del pie
Desviación
desplazamiento del quinto dedo del pie
Contractura en flexión del quinto dedo del pie
Aplasia
hipoplasia de las falanges del segundo dedo del pie
Falanges anchas del segundo dedo del pie
Segunda falange del dedo del pie en forma de bala
Segunda falange del dedo del pie curvada
Defectos osteolíticos de las falanges del segundo dedo del pie
Esclerosis irregular de la falange del segundo dedo del pie
Sinfalangismo afectando las falanges del segundo dedo del pie
Falanges del segundo dedo del pie en forma triangular
Duplicación de las falanges del segundo dedo del pie
Anomalía de la falange distal del segundo dedo del pie
Anomalía de la falange media del segundo dedo del pie
Anomalía de la falange proximal del segundo dedo del pie
Aplasia
hipoplasia de las falanges del tercer dedo del pie
Falanges anchas del tercer dedo del pie
Tercera falange del dedo del pie en forma de bala
Tercera falange del dedo del pie curvada
Defectos osteolíticos de las falanges del tercer dedo del pie
Esclerosis irregular de la falange del tercer dedo del pie
Sinfalangismo que afecta a las falanges del tercer dedo del pie
Falanges del tercer dedo del pie en forma triangular
Duplicación de la falange del tercer dedo del pie
Anomalía de la falange distal del tercer dedo del pie
Anomalía de la falange media del dedo tercero del pie
Anomalía de la falange proximal del tercer dedo del pie
Aplasia
hipoplasia de las falanges del cuarto dedo del pie
Falanges anchas del cuarto dedo del pie
Cuarta falange del dedo del pie en forma de bala
Cuarta falange del dedo del pie curvada
Defectos osteolíticos de las falanges del cuarto dedo del pie
Esclerosis irregular de la falange del cuarto dedo del pie
Sinfalangismo afectando las falanges del cuarto dedo del pie
Falanges del cuarto dedo del pie en forma triangular
Duplicación de la falange del cuarto dedo del pie
Anomalía de la falange distal del cuarto dedo del pie
Anomalía de la falange media del cuarto dedo del pie
Anomalía de la falange proximal del cuarto dedo del pie
Aplasia
hipoplasia de las falanges del quinto dedo del pie
Falanges anchas del quinto dedo del pie
Quinta falange del dedo del pie en forma de bala
Quinta falange del dedo del pie curvada
Defectos osteolíticos de las falanges del quinto dedo del pie
Esclerosis irregular de la falange del quinto dedo del pie
Sinfalangismo afectando las falanges del quinto dedo del pie
Falanges del quinto dedo del pie en forma triangular
Duplicación de las falanges del quinto dedo del pie
Anomalía de la falange distal del quinto dedo del pie
Anomalía de la falange media del quinto dedo del pie
Anomalía de la falange proximal del quinto dedo del pie
Aplasia
hipoplasia de la falange proximal del segundo dedo del pie
Falange proximal ancha del segundo dedo del pie
Falange proximal del segundo dedo de la mano en forma de bala
Falange proximal curvada del segundo dedo del pie
Defectos osteolíticos de la falange proximal del segundo dedo del pie
Esclerosis irregular de la falange proximal del segundo dedo del pie
Sinfalangismo que afecta a la falange proximal del segundo dedo del pie
Falange proximal en forma triangular del segundo dedo del pie
Duplicación de la falange proximal del segundo dedo del pie
Aplasia
hipoplasia de la falange media del segundo dedo del pie
Falange media ancha del segundo dedo del pie
Falange media del segundo dedo del pie en forma de bala
Falange media curvada del segundo dedo del pie
Defectos osteolíticos de la falange media del segundo dedo del pie
Esclerosis irregular de la falange media del segundo dedo del pie
Sinfalangismo afectando la falange media del segundo dedo del pie
Falange media del segundo dedo del pie en forma triangular
Duplicación de la falange media del segundo dedo del pie
Aplasia
hipoplasia de la falange distal del segundo dedo del pie
Falange distal ancha del segundo dedo del pie
Falange distal del segundo dedo del pie en forma de bala
Falange distal curvada del segundo dedo del pie
Defectos osteolíticos de la falange distal del segundo dedo del pie
Esclerosis irregular de la falange distal del segundo dedo del pie
Sinfalangismo afectando la falange distal del segundo dedo del pie
Falange distal del segundo dedo del pie en forma triangular
Duplicación de la falange distal del segundo dedo del pie
Duplicación completa de la falange proximal del segundo dedo del pie
Duplicación parcial de la falange proximal del segundo dedo del pie
Duplicación completa de la falange distal del segundo dedo del pie
Duplicación parcial de la falange distal del segundo dedo del pie
Duplicación completa de la falange media del segundo dedo del pie
Duplicación parcial de la falange media del segundo dedo del pie
Duplicación parcial de la falange del segundo dedo del pie
Duplicación completa de las falanges del segundo dedo del pie
Aplasia de las falanges del segundo dedo del pie
Acortamiento de la falange del segundo dedo del pie
Falange distal ausente del segundo dedo del pie
Falange distal corta del segundo dedo del pie
Aplasia de la falange media del segundo dedo del pie
Acortamiento de la falange media del segundo dedo del pie
Aplasia de la falange proximal del segundo dedo del pie
Acortamiento de la falange proximal del segundo dedo del pie
Anomalía del tabique ventricular
Apéndice accesorio con forma de dedo del pie
Apéndice accesorio con forma de dedo de la mano
Polidactilia
Fémur bífido
Insuficiencia pulmonar
Comunicación interauricular ostium primum
Estenosis tricúspide
Fístula anal
Atresia colónica
Estenosis esofágica
Aplasia
hipoplasia del bazo
Ectopia del bazo
Asimetría pélvica
Espículas acetabulares
Techo acetabular inclinado
Anomalía del hendidura sacrociática mayor
Ensanchamiento de la hendidura sacrociática
Pseudohermafroditismo femenino
Hermafroditismo verdadero
Anormalidad de los genitales femeninos
Anormalidad de los genitales masculinos
Aplasia
hipoplasia del ovario
Aplasia del ovario
Estría ovárica
Pubertad precoz femenina
Aplasia
hipoplasia de los testículos
Aplasia de los testículos
Testículos supernumerarios
Oligosacariduria
Anomalía de la ruta de biosíntesis del hemo
Porfirinuria
Cálculos en la vejiga
Extrofia cloacal
Aplasia
hipoplasia de la vejiga
Aplasia de la vejiga
Anomalía del uraco
Uraco persistente
Fístula uretral
Válvula uretral
Acromelia de los miembros superiores
Bandas amnióticas en los brazos
Hipertrofia de la extremidad superior
Hiperextensibilidad en el codo
Anomalía de la eminencia hipotenar
Eminencia hipotenar pequeña
Aplasia
hipoplasia de los pliegues palmares
Ausencia del pliegue palmar
Anomalía de los pliegues palmares
Anillo de constricción en dígitos fetales
Sindactilia ósea dedo
Metacarpianos largos
Acromelia de los miembros inferiores
Bandas amnióticas en las piernas
Hipertrofia de la extremidad inferior
Sirenomelia
Rótula bipartita
Subluxación rotuliana
Hiperextensibilidad de la rodilla
Limitación de la movilidad de la rodilla
Incurvación del peroné
Duplicación del peroné
Aumento de la longitud de la tibia
Limitación de movimiento en los tobillos
Dermatoglifos plantares anormales
Asimetría del pie
Metatarso valgo
Aplasia de los huesos del tarso
Hipermovilidad de las articulaciones de los pies
Dedo del pie largo
Calcificación suprarrenal
Calcificación de la hipófisis
Hiperpituitarismo
Aplasia
hipoplasia del timo
Hiperplasia del timo
Tejido del timo ectópico
Quiste tirogloso
Aumento de los movimientos fetales
Marcha apráxica
Dislexia
Alexia
Agnosia
Agnosia digital
Disgrafía
Astereognosia
Prosopagnosia
Ecolalia
Mioclono palatino
Mioclonía espinal
Vértigo paroxístico
Espasmo de cabeceo
Amnesia global transitoria
Apnea del sueño
Apnea central del sueño
Suturas craneales anchas
Silla turca pequeña
Bóveda craneal estrecha
Neumatización de los senos craneales acelerada
Cutis girata del cuero cabelludo
Nistagmo vestibular
Opsoclonia
Nistagmo vertical
Nistagmo vertical hacia abajo
Fibrilación muscular
Flaccidez muscular
Miotonía inducida por la percusión
Parálisis debida a lesiones de los tractos motores principales
Paraplejía
Paraplejía
paraparesia
Crisis oculógiras
Sindactilia cutánea de dedo de la mano
Superposición de los dedo de la manos
Anomalía del clivus
Clivus vertical
Clavículas onduladas
Costillas onduladas
Queloides
Epiglotis bífida
Aplasia
hipoplasia de la epiglotis
Hamartoma
Metatarsianos en forma de Y
Hamartoma del ojo
7-dehidrocolesterol elevado
Alfa-fetoproteína disminuída en suero materno
Niveles elevados de ácido fitánico
Anomalía de la epífisis de la cabeza femoral
Displasia de la cabeza femoral
Lesión quística intracraneal
Epífisis ausentes
Epífisis en forma de corchetes
Epífisis en forma de cono
Epífisis agrandadas
Epífisis irregulares
Epífisis de marfil
Pseudoepífisis
Epífisis pequeñas
Epífisis triangulares
Fusión prematura epimetafisiaria
Anomalía de la epífisis femoral distal
Anomalía de la epífisis tibial proximal
Anomalía de la epífisis tibial distal
Anomalía de las epífisis de peroné
Anomalía de la epífisis proximal del peroné
Anomalía de la epífisis distal del peroné
Anomalía de la epífisis radial proximal
Anomalía de la epífisis distal del radio
Anomalía de la epífisis proximal del húmero
Anomalía de la epífisis distal del húmero
Anomalía de la epífisis distal del cúbito
Anomalía de la epífisis cubital proximal
Predominio de fibra muscular tipo 2
Tumor odontogénico quetaroquístico
Quiste del párpado
Chalacion
Orzuelo
Orzuelo externo
Orzuelo interno
Apéndice cutáneo
Hoyuelos palmares
Fositas plantares
Fibroma
Angiofibromas
Fibroma de pulmón
Fibroma cardíaco
Fibroma ovárico
Fibroma de la mama
Prominencia malar
Sindactilia cutánea de los dedos del pie
Neoplasia del sistema esquelético
Uña aplásica
hipoplásica
Disgenesia hipofisaria anterior
Agenesia hipofisaria anterior
Hipoplasia hipofisaria anterior
Parálisis facial
Anomalía de la corteza del húmero
Anomalía de epífisis de los metatarsianos
Anomalía de las epífisis de los pies
Anosmia global
Anosmia parcial
Hiposmia global
Hiposmia parcial
Esquisencefalia
Amiloidosis conjuntival
Fosfatasa alcalina elevada de origen hepático
Fosfatasa alcalina elevada de origen óseo
Anomalía de la cavidad nasal
Anomalía de la cavidad medionasal
Atresia de la parte media de la nariz
Estenosis de la parte media de la nariz
Aplasia de las falanges distales de los dedos de los pies
Inestabilidad de la columna cervical
Elasticidad de la piel anormal
Translucidez dérmica
Alas nasales aplanadas
Subdesarrollo premaxilar
Anomalía de las meninges
Anomalía de la duramadre
Anomalía de la hoz cerebral
Aplasia de la hoz cerebral
Punteado epifisiario
Osificación epifisaria anormal
Disminución de la densidad mineral ósea en parches
Cambios irregulares de la densidad mineral ósea
Variación irregular en la densidad mineral ósea
Osificación anormal del hueso de la mano
Ausencia del tercer ventrículo cerebral
Anomalía del diencéfalo
Alteración en la morfología del tálamo
Fusión de los tálamos izquierdo y derecho
Coxa valga bilateral
Hipoplasia de la espina nasal anterior
Aplasia del maxilar
Anomalía del hueso cigomático
Pómulos poco desarrollados
Anomalía del tercer metatarsiano
Anomalía de la curvatura de la columna vertebral
Anomalía de la osificación de los huesos del pie
Íleo mecánico
Enuresis nocturna
Enuresis diurna
Fosfatasa alcalina tisular no específica elevada
Fosfatasa alcalina elevada de origen renal
Fosfatasa alcalina intestinal
Fosfatasa alcalina placentaria elevada
Fosfatasa alcalina tisular no específica baja
Fosfatasa alcalina de origen óseo baja
Disminución de la fosfatasa alcalina de origen renal
Fosfatasa alcalina de origen hepático baja
Fosfatasa alcalina intestinal baja
Fosfatasa alcalina placentaria baja
Polidactilia imagen en espejo
Polidactilia en mano imagen en espejo
Polidactilia de pie imagen en espejo
Sindactilia de dedos 2-5 de la mano
Catarata pulverulenta
Catarata lamelar pulverulenta
Cataratas suturales
Catarata polar
Catarata piramidal anterior
Cataratas pulverulenta Nuclear
Catarata nuclear triangular
Catarata total
Nivel anormal de inmunoglobulinas
Hipergammaglobulinemia
Sindactilia de dedos 1-2 de la mano
Sindactilia de dedos 4-5 de la mano
Sindactilia de dedos 1-3 de la mano
Sindactilia de dedos 1-4 de la mano
Sindactilia de dedos 1-5 de la mano
Sindactilia de dedos 2-4 de la mano
Sindactilia de dedos 3-5 de la mano
Sindactilia de dedos 1-2 del pie
Sindactilia de dedos 1-4 del pie
Sindactilia de dedos 1-5 del pie
Sindactilia de dedos 2-4 del pie
Sindactilia de dedos 2-5 de los pies
Sindactilia de dedos 3-5 del pie
Sindactilia ósea de los dedos del pie
Anormalidad de la textura del cabello
Patrón anormal del cabello
Espiral anormal en el cabello
Asimetría de los oídos
Lesiones quísticas de los pabellones auriculares
Neumatización acelerada de la apófisis mastoides
Fibras nerviosas corneales prominentes
Ruptura espontánea del globo
Aplasia de la retina
Mancha macular rojo cereza en la retina
Doble ceja
Extensión de las cejas hacia párpado superior
Cambios nodulares que afectan a los párpados
Nevus flammeus del párpado
Displasia fibrosa de los huesos
Displasia fibrosa poliostótica
Displasia fibrosa monostótica
Osteopoiquilia
Osteopatía estriada
Edema de los miembros inferiores
Edema de los miembros superiores
Metatarsiano corto
Ausencia de huesos metatarsianos
Aplasia de las falanges de los dedos de los pies
Hipoplasia de las falanges de los dedos de los pies
Desflecamiento medial de la ceja
Punto lacrimal ectópico
Blefarocalasia
Dermatocalasia
Hoyuelo en la barbilla
Hendidura de la mandíbula
Defecto de la línea media de la mandíbula
Anomalía de la articulación temporomandibular
Asimetría del maxilar
Aplasia
hipoplasia de la premaxila
Aplasia de la premaxila
Anomalía de la premaxila
Prominencia premaxilar
Ausencia del dedo gordo del pie
Columela ancha
Cordoma
Inserción baja de la columela
Pestañas cortas
Hiperqueratosis palmar
Calcificación ectópica
Anormalidad pilonidal sacrococcígea
Seno pilonidal
Fístula pilonidal
Absceso pilonidal
Retorno venoso pulmonar anómalo
Retorno venoso pulmonar anómalo parcial
Cor triatriatrum
Anillo vascular
Traqueobronquiomegalia
Broncomegalia
Traqueomegalia
Pelvis grande
Hiperacusia
Hoyuelos cutáneos
Hoyuelos cutáneos en el hombro
Eritema
Neoplasia uterina
Neoplasia gonadal
Neoplasias del tracto urinario
Neoplasia genital
Neoplasia testicular
Anormalidad de las células de Leydig
Hipoplasia de las células de Leydig
Hiperplasia de las células de leydig
Uñas bífidas
Deterioro cognitivo para la construcción visuoespacial
Glioma del cerebelo
Glioma del tallo cerebral
Hemangioblastoma
Pecas labiales
Pinealoma
Ausencia del arco de cupido
Pliegue nasolabial subdesarrollado
Hiperpigmentación perioral
Eversión del bermellón del labio superior
Bermellón labial con forma de V invertida
Comisuras bucales de inclinación superior
Bermellón del labio superior en forma de U
Mordida abierta
Lengua protruyente
Úvula ancha
Úvula larga
Úvula estrecha
Úvula corta
Número anormal de espirales pelo
Posición anormal del espiral del pelo
Nevos sebáceo
Nevus epidérmico
Nevus sebáceo linear
Convulsiones tónicas generalizadas
Convulsiones atónicas
Convulsiones dacrísticas
Crisis gelásticas
Escotoma centelleante
Suturas craneales acabalgadas
Anomalía del v par craneal o trigémino
Anomalía del xi par craneal
Anomalía del xii par craneal o nervio hipogloso
Anomalía del VII par craneal o nervio facial
Espasmo hemifacial
Deterioro de la sensación de temperatura
Deterioro de la sensación táctil
Propiocepción alterada
Alteración en la sensación de dolor
Sensación de dolor espontánea
parestesia
Cambios tróficos relacionados con el dolor
Pérdidas sensoriales disociativas
Anomalía de la homeostasis del cobre
Ceruloplasmina en suero disminuida
Cobre sérico unido a nonceruloplasmina elevado
Aumento de la concentración urinaria de cobre
Descargas epileptiformes multifocales
EEG con actividad focal lenta
EEG con actividad lenta multifocal
EEG con actividad lenta generalizada
EEG con actividad rítmica anormal persistente
EEG con complejos punta-onda
EEG con complejos punta-onda
EEG con complejos punta-onda
EEG con complejos punta-onda
EEG con trazado de supresión de actividad
EEG con respuesta fotoparoxística
EEG con descargas epileptiformes periódicas lateralizadas
EEG con actividad generalizada de baja amplitud
EEG con actividad localizada de baja amplitud
EEG con complejos periódicos
EEG con trazado anormal periódico
EEG con descargas epileptiformes inducidas por hiperventilación
Presentación de nalgas completa
Presentación completa de nalgas
Presentación de nalgas incompleta
Retraso en el desarrollo de la motricidad fina
Retraso en el lenguaje receptivo
Discapacidad intelectual severa
Trastorno de oposición desafiante
Defecto de la pared abdominal
Disinergia
Disinergia ocular
Asinergia
Ataxia sensorial
Inversión de la onda T en el ECG
Atrofia de la médula espinal a nivel cervical
Xantomatosis en tendón
Reflejo de Chaddock
Anormalidad del nivel de proteínas circulantes
Estrabismo unilateral
Higroma quístico fetal
Higroma quístico postnatal
Aumento de la translucencia nucal fetal
Anomalía del cordón umbilical
Atresia de la válvula pulmonar
Atresia de la válvula aórtica
Acromelia
Necrosis aséptica ósea
Osteocondrosis disecante
Enfermedad de Koehler
Enfermedad de Kienboeck
Enfermedad de Osgood-Schlatter
Enfermedad de Scheuermann
Anomalía del metabolismo de los aminoácidos de cadena ramificada
Anomalía del metabolismo de la fenilalanina
Anomalía del metabolismo de los aminoácidos de la familia de serina
Anomalía del metabolismo de la glicina
Hipersarcosinemia
Hipersarcosinuria
Anomalía del metabolismo de la sarcosina
Anomalía del metabolismo de aminoácidos de la familia del aspartato
Anomalía del metabolismo de treonina
Anomalía del metabolismo de la metionina
Anomalía del metabolismo de los aminoácidos de la familia glutamina
Anomalía del metabolismo de la glutamina
Anomalía del metabolismo de los aminoácidos de la familia histidina
Hiperhistidinemia
Anomalía del metabolismo de la prolina
Anomalía del metabolismo de la lisina
Anomalía del metabolismo de la arginina
Hipervalinemia
Hiperleucinemia
Anomalía del metabolismo de la isoleucina
Hiperisoleucinemia
Anomalía del metabolismo de la valina
Anomalía del metabolismo de aminoácidos familia piruvato
Anomalía del metabolismo de la alanina
Anomalía del metabolismo de la tirosina
Anomalía del metabolismo de la cisteína
Anomalía del metabolismo de la homocisteína
Catarata zonular
Catarata coraliforme
Catarata membranosa
Catarata subcapsular anterior
Catarata cortical posterior densa
Cataratas puntiforme nuclear
Catarata aculeiforme
Anomalía de la homeostasis de cationes divalentes inorgánicos
Anomalía del metabolismo del ácido orótico
Anormalidad de la homeostasis de cationes
Anomalía de la homeostasis de cationes monovalentes inorgánicos
Anomalía de la homeostasis de sodio
Anomalía del metabolismo de base nitrogenada
Anomalía del metabolismo de la xantina
Xantinuria
Anormalidad del tracto urinario superior
Anormalidad del tracto urinario inferior
Anomalía del esqueleto nasal
Anomalía nasal externa
Anomalía del hueso nasal
Aplasia
hipoplasia del hueso nasal
Aplasia del hueso nasal
Foco ecogénico intracardiaco fetal
Intestino fetal ecogénico
Anormalidad de la pelvis renal
Pielectasia fetal
Dilatación de la pelvis renal
Anomalía del flujo sanguíneo del ductus venoso
Anomalía del sistema cardiovascular fetal
Anomalía del flujo sanguíneo de la vena umbilical
Anomalía del cuarto ventrículo
Anomalía del tercer ventrículo
Ventrículomegalia fetal leve
Hidrocefalia no comunicante
Corazón derecho hipoplásico
Dilatación vesical
Megavejiga fetal
Válvula uretral posterior congénita
Agenesia renal bilateral
Malformación adenomatoidea quística congénita del pulmón
Secuestro broncopulmonar
Secuestro intralobar
Secuestro extralobar
Ausencia de estómago en ecografía fetal
Anomalía del metabolismo de los ácidos grasos de cadena larga
Anomalía del metabolismo del ácido fitánico
Anomalía del metabolismo de aniones de ácidos grasos
Anomalía del metabolismo de la carnitina
Anormalidad del metabolismo liposacárido
Anomalía del metabolismo de glicolípidos
Alteración del antígeno del grupo sanguíneo
Ausencia del antígeno Luterano en eritrocitos
Anemia por producción insuficiente
Alteración de leucocitos mieloides
Alteración del número de células B
Linfocitopenia B
Alteración de los fagocitos
Alteración de la fisiología del sistema inmune
Anomalía del nivel de colesterol de las lipoproteínas
Hiperlipoproteinemia
Hipolipoproteinemia
Alteración de la inmunidad celular
Alteración de la vía extrínseca
Alteración de la vía intrínseca
Alteración de la vía común de la coagulación
Anormalidad de la musculatura abdominal
Incontinencia urinaria de esfuerzo
Anomalía de la subcorteza cerebral
Anomalía del núcleo estriado
Anomalía del metabolismo del ácido dicarboxílico
Anomalía del metabolismo de los ácidos monocarboxílicos
Rotura cromosómica inducida por la radiación ionizante
Susceptibilidad aumentada a intercambio de cromátides hermanas
Aplasia del tracto óptico
Aplasia
hipoplasia del tracto óptico
Aumento de la densidad mineral ósea
Osteopetrosis
Miopía severa
Anomalía del árbol arterial sistémico
Cirrosis mixta
Anomalía de la musculatura del cuello
Anomalía del metabolismo de polisacáridos
Anomalía del metabolismo
homeostasis de los hidratos de carbono
Homeostasis anormal de la glucosa
Anormalidad de la concentración de glucosa en la sangre
Anormalidad de la concentración de glucosa urinaria
Anormalidad de la fisiología celular
Anomalía del ciclo celular
Anormalidad de la condensación cromosómica
Anomalía del metabolismo de mucopolisacáridos
Anormalidad del nivel enzimático circulante
Anomalía del metabolismo de los ácidos grasos insaturados
Anomalía del metabolismo de las prostaglandinas
Anormalidad del tracto gastrointestinal
Anomalía de la fisiología del sistema cardiovascular
Aplasia
hipoplasia de la vagina
Anormalidad de la trompa de Falopio
Anomalía de la circulación sanguínea
Hemorragia interna
Anomalía de la homeostasis del elemento de transición catiónico
Anomalía de la homeostasis del hierro
Anomalía de la regulación de fluidos
Deterioro del metabolismo de la fructosa
Amiloidosis
Anormalidad de la corteza renal
Anormalidad de la excreción renal
Disminución del gasto urinario
Anormalidad de la reabsorción renal
Anomalía de la hélice
Anormalidad de la vía biliar intrahepática
Aplasia
hipoplasia de la columna cervical
Anomalía de la homeostasis de potasio
Alteración del nivel plasmático de adrenocorticotropina
Número anómalo de los dientes permanentes
Agenesia del incisivo central superior permanente
Agenesia del incisivo central superior primaria
Agenesia del incisivo central mandibular primaria
Agenesia del incisivo central mandibular permanente
Agenesia del incisivo lateral superior primaria
Agenesia del incisivo lateral superior permanente
Agenesia del premolar
Agenesia del premolar superior
Agenesia del premolar mandibular
Agenesia del molar
Agenesia del molar permanente
Agenesia del primer molar permanente
Agenesia del segundo molar permanente
Periodontitis generalizada
Periodontitis localizada
Dentinogénesis imperfecta limitada a los dientes primarios
Anomalía de la estructura dental
Incisivos mal alineados
Anomalía de la morfología de los incisivos
Número anómalo de los incisivos
Incisivo cónico
Mesiodens
Odontoma
Aumento del número de dientes
Anomalía de la morfología molar
Anomalía de la morfología molar permanente
Dientes sin raíz
Anomalía de la coloración dental
Hipoplasia localizada del esmalte dental
Dientes de coloración verduzca
Anomalía del premolar
Anomalía del molar
Anomalía del diente canino
Diente impactado
Anomalía de la morfología premolar
Macrodoncia de incisivo
Incisivo primario cónico
Incisivo superior  cónico
Hipocalcificación del esmalte dental
Inmadurez del esmalte dental
Dentinogénesis imperfecta de los dientes primarios y permanentes
Cúspide en garra - Diente evaginado
Diente dentro de un diente
Doble diente
Fusión de los dientes
Diente bigeminado
Molar en forma de mora
Molarización del premolar
Sobremordida
Dientes maxilares salidos hacia delante
Desmielinización periférica
Espasmos epilépticos
Apraxia del habla
Hemiplejía espástica
Atresia intestinal
Atresia ileal
Anomalía del tracto de salida del ventrículo
Anomalía de la homeostasis del volumen sanguíneo
Hipervolemia
Hipovolemia
Estomatitis aftosa recurrente
Sinusitis recurrente
Sinusitis crónica
Amigdalitis
Alteración de la fisiología de proteínas séricas inmunitarias
Alteración del nivel de citoquinas en suero
Alteración de la secreción de citoquinas
Producción anómala de citoquinas NFKB1 dependientes
Alteración de la secreción de quimioquinas
Alteración de la secreción de interferón
Alteración de la secreción de interleuquina
Alteración de la secreción del factor de necrosis tumoral
Anomalía del dorso nasal
Cresta nasal cóncava
Anormalidad de la morfología de la piel
Anormalidad de la fisiología de la piel
Anomalía inflamatoria de la piel
Anormalidad de la morfología de la epidermis
Anormalidad de los melanosomas dérmicos
Nefroptosis
Eczema perioral
Necrosis esofágica aguda
Pielectasia fetal bilateral
Anormalidad de la morfología del cáliz renal
Erupción perianal
Furunculosis crónica
Aumento de la sensibilidad a la radiación ionizante
Fiebre baja
Aplasia
hipoplasia de las glándulas sudoríparas
Aplasia de las glándulas sudoríparas
Urticaria no pruriginosa
Anormalidad de anexos de la piel
Duplicación gástrica
Duplicación gastrointestinal
Catarata relacionada con la edad
Catarata nuclear asociada con la edad
Catarata cortical relacionada con la edad
Catarata subcapsular posterior asociada con la edad
Convulsiones sintomáticas
Crisis convulsivas dialépticas
Crisis de ausencia típicas
Crisis de ausencia con otras características especiales
Crisis de ausencia con mioclonías del párpado
Crisis de ausencia mioclónicas
Estado obnubilado
Crisis de ausencia de aparición temprana
Convulsiones motoras focales
Convulsiones autonómicas focales
Convulsiones autonómicas focales con respuesta alterada
Convulsiones autonómicas focales sin respuesta alterada
Auras
Auras auditivas
Auras epigástricas
Auras gustativas
Auras olfativas
Auras psíquicas
Auras somatosensoriales
Auras vegetativas
Auras visuales
Convulsiones mioclónicas focales
Convulsiones tónicas focales
Mioclonías en los párpados
Convulsiones clónicas generalizadas
Convulsiones atónicas mioclónicas
Crisis febriles simples
Convulsiones febriles complejas
Convulsiones hipocinéticas
Convulsiones hiperquinéticas
Convulsiones versivas
EEG con variantes constitucionales
EEG con actividad de fondo de 4-5
segundos
EEG con predominancia de ondas alfa
Beta-electroencefalograma
EEG dominado por ondas beta difusas
EEG de bajo voltaje
Descargas epileptiformes en el electroencefalograma
EEG con descargas epileptiformes focales inducidas por hiperventilación
EEG con descargas epileptiformes generalizadas inducidas por hiperventilación
EEG con descargas epileptiformes focales
Descargas epileptiformes focales con propagación limitada al hemisferio contralateral
Descargas focales en el eeg con propagación sobre el hemisferio ipsilateral
Descargas generalizadas en el eeg con propagación en ambos hemisferios
Descargas epilépticas multifocales bilaterales
Descargas epileptiformes multifocales uni y bilaterales
Descargas epileptiformes multifocales unilaterales
Descargas epileptiformes focales polimórficas
EEG con espigas focales
EEG con series de espigas focales
EEG con ondas lentas afiladas focales
EEG con ondas afiladas focales
EEG con ondas pico focales
EEG con descargas epileptiformes generalizadas
EEG con ondas lentas afiladas generalizadas
EEG con descargas epileptiformes polimórficas generalizadas
EEG con cambios en el voltaje
EEG con aceleración difusa
EEG con frecuencias lentas anormales
EEG con actividad lenta continua
EEG con actividad lenta intermitente
EEG con actividad lenta generalizada grado 1
EEG con actividad lenta generalizada grado 2
EEG con actividad lenta generalizada grado 3
EEG con actividad lenta generalizada grado 4
EEG con enlentecimiento de la actividad a nivel occipital
EEG con respuesta fotoparoxística grado i
EEG con respuesta fotoparoxística grado ii
EEG con respuesta fotoparoxística grado iii
EEG con respuesta fotoparoxística grado iv
Hemihipsarritmia
Forma anómala del occipucio
Forma anómala de la región frontal
Cara corta
Frente prominente
Pliegues de la frente verticales
Glabela deprimida
Depresión metópica
Ablefaria
Epiblefaron
Aplasia
hipoplasia de párpados
Nivel elevado de proteína c-reactiva
Cejas horizontales
Ceja ancha
Ceja extendida lateralmente
Pestañas prominentes
Repliegue infra-orbitario
Protrusión anterior del antihélix
Antihelix ausente
Cruz adicional del antihelix
Antihélix angulado
Rama inferior del antihelix ancha
gruesa
Rama inferior del antihélix prominente
Desarrollo insuficiente de la rama inferior del antihélix
Tallo del antihélix prominente
Tallo del hélix con forma sinuosa
Desarrollo insuficiente del tallo del antihélix
Anomalía de la cruz inferior del antihelix
Anomalía del tallo del antihelix
Anomalía de la cruz superior del antihelix
Desarrollo insuficiente de la rama superior del antihélix
Rama superior del antihélix prominente
Antitrago evertido
Antitrago ausente
Antitrago bífido
Desarrollo insuficiente del anti-trago
Criptotia
Criptotia tipo I
Criptotia tipo II
Cruz del hélix ausente
Raíz  del hélix unida al antihélix
Crus del hélix con forma sinuosa
Fusión de la raíz del hélix con la rama inferior del antehélix
Porción terminal de la raíz  del hélix ancha
Muesca darwiniana del hélix
Tubérculo darwiniano del hélix
Surco linear en hélix
Anteversión del lóbulo de la oreja
Raíz ascendente discontinua del hélix
Hendidura del lóbulo de la oreja
Microtia de primer grado
Microtia de tercer grado
Trago ausente
Trago bífido
Duplicación del trago
Trago prominente
Desarrollo insuficiente del trago
Anisocitosis
Infecciones recurrentes por micobacterias
Infecciones complejas recurrentes por Mycobacterium avium
Anomalía vascular de la piel
Anormalidad de la fisiología del sistema urinario
Secuestro intrapulmonar
Anormalidad en la concentración de bicarbonato urinario
Anormalidad en la concentración de calcio urinario
Anormalidad en la concentración de catecolaminas en orina
Alteración en la morfología del cerebro posterior o romboencéfalo
Anomalía del metencéfalo
Segmento corto de megacolon agangliónico
Segmento largo de megacolon aganglionar
Aganglionosis colónica total
EEG con ondas lentas afiladas occipitales
EEG con ondas lentas afiladas parietales
EEG con ondas afiladas lentas temporales
EEG con ondas lentas afiladas frontales
EEG con ondas lentas afiladas centrales
EEG con ondas afiladas occipitales
EEG con ondas afiladas centrales
EEG con ondas afiladas frontales
EEG con ondas afiladas parietales
EEG con ondas afiladas temporales
Anomalía de los dedos de la mano
Pulpejo del dedo prominente
Ausencia parcial del dedo de la mano
Pulpejos de los dedos anchos
Ausencia de pie
Palma de la mano larga
Empeine convexo del dorso del pie
empeine
Pulgar ancho
Ausencia parcial del dedo del pie
Dedos de los pies separados
Pie delgado
Dedo del pie cónico
Pliegues palmares anómalos con uniones anormales
Pliegue de Sydney
Uñas fusionadas
Uña estrecha
Anomalía de la morfología de los huesos largos
Sinostosis unicoronal
Sinostosis coronal izquierda
Sinostosis unicoronal derecha
Sinostosis bicoronal
Craneosinostosis lambdoidea
Sinostosis unilambdoidea
Sinostosis lambdoidea izquierda
Sinostosis unilambdoidea derecha
Hendidura de la barbilla
Craneosinostosis de múltiples suturas
Pansinostosis
Plagiocefalia anterior
Plagiocefalia posterior
Anomalía de las fontanelas
Anomalía de las suturas craneales
Sinostosis metópica
Atrofia hemifacial
Hipoplasia hemifacial
Asimetría facial con el llanto
Deformación facial
Hirsutismo frontal
Marcas de fórceps bitemporal
Anomalía del tamaño de la boca
Anomalía de forma de la boca
Anomalía del bermellón del labio superior
Hendidura incompleta del labio superior
Labio superior largo
Retraso global del desarrollo leve
Retraso global del desarrollo moderado
Retraso global del desarrollo grave
Retraso moderado en la expresión del lenguaje
Retraso leve en la expresión del lenguaje
Alteración de la abducción ocular
Anomalía del VI par craneal o abducente
Parálisis del vi par craneal
Retraso leve en el lenguaje receptivo
Retraso moderado en el lenguaje receptivo
Retraso en el lenguaje receptivo grave
Fibrosis de la íntima arterial
Anormalidad generalizada de la piel
Lesión cutánea localizada
Anomalía regional de la piel
Anormalidad de la densidad del cabello
Hipopigmentación generalizada de pelo
Cabello seco
Patrón anormal del vello adquirido
Patrón anormal congénito del cabello
Cantidad anormal de cabello
Anormalidad de la tasa de crecimiento del cabello
Pelo blanco
Manchas de hipopigmentación del pelo
Uñas de color amarillento
Engrosamiento epidérmico
Mancha mongólica azulada
Infecciones fúngicas recurrentes de la piel
Infecciones virales recurrentes de la piel
Aplasia del oído interno
Partición incompleta de la cóclea
Partición incompleta del tipo cóclea I
Aplasia coclear
Anomalía morfológica del vestíbulo del oído interno
Aplasia del vestíbulo
Hipoplasia del vestíbulo del oído interno
Dilatación del vestíbulo del oído interno
Anomalía morfológica del canal semicircular
Aplasia del canal semicircular
Hipoplasia del canal semicircular
Canal semicircular aumentado de tamaño
Anomalía del conducto auditivo interno
Conducto auditivo interno ausente
Conducto auditivo interno estrecho
Acueducto vestibular aumentado de tamaño
Acueducto coclear aumentado de tamaño
Anomalía funcional del oído interno
Anomalía morfológica del oído interno
Anomalía morfológica de los nervios del oído interno
Anomalía del nervio vestibular
Aplasia del nervio vestibular
Hipoplasia del nervio vestibular
Aplasia
hipoplasia de la cóclea
Anomalía del nervio coclear
Anomalía de la columna dorsal de la médula espinal
Hipotonía central
Atrofia de músculo tibial
Mielinización anormal del sistema nervioso central
Retraso en la mielinización periférica
Neuropatía sensitiva desmielinizante
Vasos sanguíneos de cordón umbilical anormales
Talla baja con tronco corto letal
Talla baja con miembros cortos
Talla baja con tronco corto de aparición en la infancia
Talla alta proporcional
Moderado retraso en el crecimiento intrauterino
Anomalía de membrana placentaria
Cesárea
Parto con fórceps
Parto con ventosas
Distocia de hombros
Placenta hidrópica
Placenta calcificada
Infarto placentario
Cordón umbilical largo
Inserción anormal de cordón umbilical
Desprendimiento de placenta
Anormalidad de la homeostasis del cloruro
Hipercloremia
Aumento de niveles séricos de zinc
Marcador menor en la ecografía fetal
Quistes fetales del plexo coroideo
Cisterna magna fetal aumentada
Longitud del fémur fetal disminuída
Longitud del húmero fetal disminuída
Hipoplasia fetal del hueso nasal
Clinodactilia fetal del 5º dedo
Alfa-fetoproteína elevada en suero materno
Gonadotropina elevada en suero materno
Gonadotropina disminuída en suero materno
PAPP-A baja en suero materno
Screening anormal en suero materno
Enfermedad autoinmune materna
Exposición teratogénica materna
Rabdomiólisis inducida por la anestesia
Rabdomiolisis inducida por el alcohol
Anomalía de la médula oblongada o bulbo raquídeo
Alteración de la función motora central
Alteración en la coordinación
Rigidez por decorticación
Parálisis cerebral atetoide
Alteración en las funciones mentales superiores
Hiposegmentation de los núcleos de los neutrófilos
Clonus del tobillo
Clonus de la rodilla
Infección del sistema nervioso central
Microcefalia congénita
Anomalía funcional del oído medio
Anomalía del yunque
Anomalía del martillo
Martillo ausente
Estribo ausente
Pérdida de pestañas
Síntomas abdominales
Carcinoma de esófago
Aganglionosis del intestino delgado
Aganglionosis duodenal
Aplasia
hipoplasia de la vesícula biliar
Ausencia de vesícula biliar
Tics faciales
Regurgitación nasal
Alimentación por sonda nasogástrica en la infancia
Alimentación por sonda de gastrostomía en la infancia
Anormalidad de la morfología de las vellosidades intestinales
Atrofia de las vellosidades
Discapacidad auditiva
hipoacusia bilateral mixta o neurosensorial de inicio en la infancia
Persistencia de la arteria estapedial
Discapacidad auditiva
hipoacusia neurosensorial profunda
Nistagmo ascendente
Anoftalmia verdadera
Anomalía del punto lacrimal
Microftalmia unilateral
Anomalía del conducto lacrimal
Anomalía de la glándula lacrimal
Sinequia anterior de la cámara anterior
Sinequias posteriores de la cámara anterior
Adherencia corneolenticular
Anomalía del grosor corneal
Aumento de grosor de la córnea
Anomalía del endotelio corneal
Migración anormal de endotelio corneal
Anomalía de la membrana de Descemet
Reducción del número de células endoteliales de la córnea
Anomalía del estroma corneal
Opacidad central de la córnea
Opacidad generalizada de la córnea
Anomalía del epitelio corneal
Neovascularización corneal
Neovascularización del iris
Aniridia parcial
Midriasis
Policoria
Lenticono anterior
Lenticono posterior
Aplasia de la fóvea
Maculopatía en ojo de buey
Edema macular cistoide
Neovascularización coroidea de la mácula
Manchas maculares
Agujero macular
Hiperpigmentación macular
Drusas
Esquisis macular
Hiperpigmentación del fondo de ojo
Angioma cavernoso de retina
Anomalía de la visión binocular
Estereopsis anormal
Monocromacia de bastones
Monocromacia de cono
Dicromacia
Alteración de visión tricrómica
Deuteranomalía
Deuteranopia
Protanopia
Quiste del iris
Melanoma del iris
Nevus del iris
Anomalía de forma del cristalino
Lentiglobo
Hipertrofia congénita aislada unilateral del epitelio pigmentario de la retina
Hipertrofia congénita bilateral múltiple del epitelio pigmentario de la retina
Agujero en la retina
Vitreítis
Exudado subretiniano
Degeneración de retina en copo de nieve
Orientación espacial anormal de los segmentos cardíacos
Rearreglo anormal atrial
Isomerismo auricular derecha
Isomerismo auricular izquierdo
Situs inversus atrial
Situs auricular ambiguo
Transposición corregida de las grandes arterias
Válvulas auriculoventriculares criss-cross
Válvulas auriculoventriculares criss-cross con ventrículos superior-inferior
Ventrículos superior-inferior sin válvulas auriculoventriculares entrecruzadas
Bucle en l del ventrículo derecho
Conexión anormal de los segmentos cardíacos
Conexión atrioventricular anormal
Conexión auriculoventricular izquierda ausente
Conexión auriculoventricular derecha ausente
Ventrículo único con ausencia de conexión atrioventricular del lado izquierdo
Corazón biventricular con cabalgamiento entre la válvula atrioventricular derecha parcial y ausencia de conexión atrioventricular del lado izquierdo
Lado derecho de la aurícula al ventrículo izquierdo y conexión atrioventricular del lado izquierdo ausente
Conexión auriculoventricular ambigua
Conexión atrioventricular discordante
Doble conexión auriculoventricular de entrada
Doble entrada ventricular izquierda
Doble entrada ventricular derecha
Entrada doble al ventrículo único de morfología indeterminada
Entrada doble al ventrículo único con orificio atrioventricular común
Entrada doble al ventrículo único con dos válvulas auriculoventriculares
Atresia mitral
Válvula atrioventricular principal
Válvula atrioventricular cabalgada
Conexión ventrículo-arterial anormal
Arcada de la válvula mitral
Atrio común
Cor triatriatum dexter
Seno venoso del defecto septal atrial
Orificio de la válvula mitral doble
Velo anterior hendido de la válvula mitral
Estenosis mitral congénita
Válvula mitral en paracaídas
Anillo supramitral
Válvula tricúspide hipoplásica
Válvula atrioventricular imperforada
Válvula tricúspide imperforada
Defecto del canal atrioventricular intermedio
Defecto del canal atrioventricular parcial
Defecto de canal atrioventricular transicional
Defecto de canal atrioventricular desbalanceado
Cuerdas tendinosas cortas de la válvula mitral
Doble salida del ventrículo izquierdo
Ectopia cordis abdominal
Ectopia cordis cervical
Ectopia cordis toracocervical
Ectopia cordis torácica
Ectopia cordis toracoabdominal
Patrón de ramificación anormal del arco aórtico
Arco aórtico cervical
Origen común del tronco braquiocefálico derecho y la arteria carótida común izquierda
Arco aórtico doble
Arco aórtico izquierdo con origen cervical de la arteria subclavia derecha
Arco aórtico izquierdo con arteria subclavia aislada
Arco aórtico izquierdo con divertículo retroesofágica de Kommerell
Arco aórtico derecho con divertículo retroesofágico de Kommerell
Arco aórtico izquierdo con arteria subclavia retroesofágica derecha
Arco aórtico izquierdo con aorta descendente derecha y de ductus arterioso derecho
Arco aórtico derecho con aorta descendente izquierda y ductus arterioso izquierdo
Arco aórtico derecho con arteria subclavia izquierda retroesofágica
Mesocardia
Dirección anormal del ápice del ventrículo
Apex ventricular direccionado a la derecha
Apex ventricular en dirección a la linea media
Malformaciones congénitas de las grandes arterias
Ventana aortopulmonar
Transposición corregida de las grandes arterias con comunicación interventricular
Transposición de grandes vasos con septo íntegro
Transposición de grandes vasos con comunicación interventricular
Tronco arterioso tipo II
Tronco arterioso tipo III
Tronco arterioso tipo IV
Interrupción del arco aórtico
Interrupción del arco aórtico tipo a
Interrupción del arco aórtico tipo b
Interrupción del arco aórtico tipo c
Alteración del situs pulmonar
Situs inversus pulmonar
Situs ambiguo pulmonar
Situs ambiguo pulmonar
Situs ambiguo pulmonar
Anormalidad de situs abdominal
Defecto septal ventricular tipo Gerbode
Defecto septal ventricular del velo
Defecto septal ventricular muscular
Defecto septal ventricular muscular apical
Múltiples defectos del tabique interventricular muscular
Anomalía de la cimitarra
Túnel aorto-ventricular
Defecto congénito del pericardio
Ausencia total del pericardio
Ausencia completa de pericardio diafragmático
Ausencia completa de pericardio del lado derecho
Ausencia de pericardio derecho diafragmático parcial
Ausencia completa de pericardio del lado izquierdo
Ausencia de pericardio izquierdo diafragmático parcial
Ausencia de pericardio diafragmático parcial
Origen anormal de las arterias coronarias
Origen anómalo de la arteria coronaria desde arteria pulmonar
Origen anómalo de la arteria coronaria izquierda desde la arteria pulmonar
Origen anómalo de la arteria coronaria derecha de la arteria pulmonar
Origen de arteria coronaria individual
Fístula de la arteria coronaria
Anomalía del seno coronario
Defecto septal atrial del seno coronario
Divertículo del seno coronario
Aneurisma del seno de valsalva
Coartación de la aorta juxtaductal
Coartación de la aorta posductal
Ductus arterioso permeable después del nacimiento a término
Ductus arterioso permeable después del nacimiento prematuro
Ductus arterioso bilateral
Doble salida ventricular derecha con doblemente comprometida defecto septal ventricular y estenosis pulmonar
Doble salida ventricular derecha con doblemente comprometida defecto septal ventricular sin estenosis pulmonar
Doble salida ventricular derecha con la no-comprometida defecto septal ventricular y estenosis pulmonar
Doble salida ventricular derecha con la no-comprometida defecto septal ventricular sin estenosis pulmonar
Doble salida ventricular derecha con comunicación interventricular subaórtica y estenosis pulmonar
Doble salida ventricular derecha con comunicación interventricular subaórtica sin estenosis pulmonar
Doble salida ventricular derecha con comunicación interventricular subpulmonar y estenosis pulmonar
Doble salida ventricular derecha con subpulmonar defecto septal ventricular sin estenosis pulmonar
Tetralogía de Fallot con válvula pulmonar ausente
Origen anómalo de una arteria pulmonar desde la aorta ascendente
Origen anómalo de la arteria pulmonar izquierda desde la aorta ascendente
Atresia tricúspide
Miocardiopatía ventricular derecha
Cardiomiopatía no compactada de ventrículo izquierdo
Miocardiopatía de Takotsubo
Vena cava superior derecha ausente
Vena cava superior con vena cabalgada bilateral
Vena cava superior sin vena cabalgada bilateral
Vena cava superior izquierda drenando directamente a la aurícula izquierda
Vena cava superior izquierda drenando al seno coronario
Interrupción de la vena cava inferior con continuación ácigos
Mixoma cardíaco
Hemangioma cardiaco
Teratoma cardiaco
Arritmia
Tetralogía de Fallot con cono subarterial ausente
Tetralogía de Fallot con defecto del canal atrioventricular
Tetralogía de Fallot con atresia pulmonar y arterias colaterales aortopulmonares
Tetralogía de Fallot con estenosis pulmonar
Ventrículo único de morfología indeterminada
Defecto septal ventricular subarterial
Defecto septal ventricular perimembranoso
Defecto septal ventricular restrictivo
Defecto septal ventricular no restrictivo
Vena cava superior infra-aórtica
Recorrido anormal de la arteria coronaria
Taquicardia nodal av
Taquicardia supraventricular con conexión mediada vía accesoria
Taquicardia supraventricular con conexión accesoria oculta
Taquicardia reciproca permanente de la unión
Taquicardia supraventricular con vía accesoria oculta en la pared libre izquierda
Taquicardia supraventricular con vía accesoria oculta en la pared libre derecha
Taquicardia supraventricular con vía accesoria oculta en el tabique
Taquicardia supraventricular con vía accesoria manifiesta
Hemorragia cerebelosa
Taquicardia supraventricular con vía accesoria manifiesta en la pared libre izquierda
Taquicardia supraventricular con vía accesoria manifiesta en la pared libre derecha
Taquicardia supraventricular con vía accesoria manifiesta en el tabique
Taquicardia por reentrada auricular
Taquicardia auricular automática
Taquicardia auricular multifocal
Electrofisiología anormal del origen del nodo sinusal
Taquicardia sinusal
Síndrome del seno enfermo
Bloqueo auriculoventricular de primer grado
Bloqueo auriculoventricular de segundo grado
Bloqueo auriculoventricular Mobitz i
Bloqueo auriculoventricular Mobitz ii
Disociación auriculoventricular
Bloqueo de rama
Bloqueo fascicular anterior izquierdo
Bloqueo de rama derecha
Bloqueo de rama izquierda
Lesiones de Libman-Sacks
Bloqueo trifascicular
Taquicardia ectópica de la unión
Taquicardia intranodal
Anomalía de las venas pulmonares
Conexión anómala total de venas pulmonares supracardíaca
Conexión anómala total de venas pulmonares cardiacas
Conexión infracardiaca anómala total de venas pulmonares
Conexión anómala total de venas pulmonares mixta
Malformación congénita del corazón derecho
Anomalía de Uhl
Taquicardia auricular multifocal caótica
Circulación fetal persistente
Debilidad muscular peroneal
Clonus del codo
Anomalía de la movilidad articular
Alteración en la función sensorial central
Alteración del nivel plasmático de cortisol
Alteración de la morfología adrenal
Alteración de la fisiología adrenal
Insuficiencia suprarrenal central
Insuficiencia suprarrenal por déficit de adrenocorticotropina
Hiperaldosteronismo primario
Insuficiencia suprarrenal por déficit de hormona liberadora de corticotropina
Déficit del receptor de hormona liberadora de corticotropina
Hiperaldosteronismo primario suprimible con dexametasona
Hiperaldosteronismo primario no sensible a glucocorticoides
Hiperaldosteronismo secundario
Glándula suprarrenal ectópica
Agenesia de las glándulas suprarrenales
Hipercorticolismo secundario
Adenoma adrenocortical no secretor
Adenoma suprarrenal secretor
Alteración de la hipófisis anterior
Déficit de hormona adrenocorticotrópica
Exceso de hormona adrenocorticotrópica
Neoplasia de la hipófisis anterior
Alteración de la hipófisis posterior
Neoplasia de la hipófisis posterior
Disgenesia de hipófisis posterior
Pituicitoma
Neurohipófisis ectópica
Agenesia de hipófisis posterior
Hipoplasia de hipófisis posterior
Adenoma acidófico de células madre hipofisarias
Adenoma gonadotrófico hipófisario
Adenoma hipofisario de células secretoras de hormona de crecimiento
Adenoma hipofisario no secretor
Adenoma hipofisario de células tirotrópica
Carcinoma hipofisario
Oncocitoma hipofisario de células fusiformes
Alteración de la morfología paratiroidea
Alteración de la fisiología paratiroidea
Disgenesia paratiroidea
Paratiroides ectópica
Hiperparatiroidismo terciario
Hipoparatiroidismo autoinmune
Alteración de la morfología del tiroides
Bocio uninodular
Adenoma folicular de tiroides
Adenoma macrofolicular tiroideo
Adenoma microfolicular tiroideo
Adenoma papilar de tiroides
Adenoma tiroideo atípico
Carcinoma anaplásico de tiroides
Hemiagenesia tiroides
Hiperplasia de células C tiroideas
Crisis tirotóxica
Tirotoxicosis de tejido tiroideo ectópico
Tirotoxicosis con bocio difuso
Tirotoxicosis con bocio multinodular tóxico
Tirotoxicosis con nódulo tiroideo único tóxico
Hipotiroidismo central
Elevación sérica de triyodotironina libre
Déficit del receptor de la hormona estimulante de la tiroides
Déficit del receptor de la hormona estimulante de la tiroides  defecto
Déficit del receptor de la hormona estimulante del tiroides
Neoplasia clasificada según tipo histología
Neoplasia clasificada según localización anatómica
Neoplasia renal embrionaria
Nefroblastomatosis intralobar
Nefroblastomatosis perilobular
Carcinoma papilar de células renales de tipo 1
Oncocitoma renal
Anomalía del tejido blando facial
Retrusión del tercio medio de la cara
Aumento del tamaño de la glándula parótida
Hamartoma de la lengua
Nariz bífida
Anomalía de la fisiología muscular
Anomalía de la morfología muscular
Atrofia de fibra muscular tipo 1
Disminución del reflejo patelar
Miotonía paradójica
Disminución de la habilidad para discriminar dos puntos
Deterioro para localizar el lugar donde han tocado a la persona
Agrafestesia
Aumento de la lipofuscina cerebral
Aumento de hipoxantina urinaria
Cefalocele
Encefalocele parietal
Encefalocele basal
Encefalocele nasofrontal
Hendidura submucosa de paladar blando
Atresia membranosa de coanas
Anomalía del esqueleto facial
Barbilla ancha
Pliegue horizontal en la barbilla
Pliegue en forma de H en la barbilla
Filtro con forma de V invertida
Filtro con un rafe en línea media
Filtro con crestas mal alineadas
Seno de la línea media del filtro
Filtro estrecho
Anomalía de la mucosa oral
Punta nasal desviado
Punta de la nariz estrecha
Punta nasal prominente y caida
Fenómeno de moyamoya
Ausencia de escafoides
Retraso en la osificación del astrágalo
Deficiencia de IgA parcial
Esclerodactilia
Alteración del número de células T
Alteración de la fisiología de las células T
Aleteo ventricular
Anomalía de la morfología esquelética
Anomalía de la fisiología ósea
Morfología anormal de los huesos de las extremidades
Acortamiento del segundo metatarsiano
Osteoblastoma
Tumor de células gigantes del hueso
Cólico abdominal
Osificación ósea anormal
Parotiditis
Hemopericardio
Quilopericardio
Derrame pericárdico seroso
Hemoperitoneo
Edema faríngeo
Pica
Plasmacitoma
Disminución de la actividad del factor IX
Queratitis punctata
Metáfisis en confeti
Pulmones trilobulados bilaterales
Morfología anómala del colágeno fibrilar óseo
Osificación esternal anormal
Pirofosfato plasmático elevada
Anomalía del ala del ilion
Ciática
Función plaquetaria anormal
Alteración de la agregación plaquetaria inducida por ácido araquidónico
Alteración de la agregación plaquetaria inducida por ristocetina
Alteración de la agregación plaquetaria inducida por trombina
Recuento anormal de plaquetas
Trombocitopenia inducida por heparina
Morfología plaquetaria anormal
Volumen plaquetario anormal
Aumento de volumen medio de plaquetas
Expresión anormal de las proteínas de la membrana plaquetaria
Disminución de la glicoproteína plaquetaria Ib-IX-V
Coagulación intravascular diseminada aguda
Disminución de la glicoproteína plaquetaria VI
Disminución del receptor plaquetario P2Y12
Gránulos plaquetarios anormales
Sangrado anormal del muñón umbilical
Hemorragia del ojo
Hifema
Hemorragia coroidea
Hemorragia que requiere transfusión de glóbulos rojos
Sangrado tras trauma menor o ausencia del mismo
Sangrado prolongado tras un procedimiento
Hemorragia posparto
Deficiencia de vitamina k
Recuento anormal de leucocitos
Alteración de la agregación plaquetaria inducida por el agonista tromboxano A2
Anemia secundaria a la menor duración de la vida de los glóbulos rojos
Hemorragia subconjuntival
Neutrofilia
Alteración del fibrinógeno circulante
Hiperfibrinogenemia
Hipofibrinogenemia
Disfibrinogemia
Hemoglobina anormal
Hemoglobina H
Persistencia de la hemoglobina F
Disminución de la Hemoglobina A
Disminución de la síntesis de la relación beta
alfa
Disminución de la síntesis de la relación alfa
beta
Aplasia radial unilateral
Cabezas de los metacarpianos aplanadas
Acortamiento de todas las falanges de los dedos de la manos
Anomalía de la articulación metacarpofalángica
Anomalía de la fosa glenoidea
Hipertricosis lumbar
Hipertricosis torácica
Calcificación cardiovascular
Amiotrofia extensor del dedo del pie
Quinto dedo del pie corto
Clinodactilia del cuarto dedo del pie
Empiema pleural
Derrame pleural transudativo
Derrame pleural exudativo
Actividad anormal de la cadena respiratoria mitocondrial
Disminución de la actividad del complejo i mitocondrial
Disminución de la actividad del complejo iii mitocondrial
Disminución de la actividad del complejo de la atp sintasa mitocondrial
Desplazamiento proximal del dedo gordo del pie
Braquidactilia
Acortamiento de la falange proximal del dedo gordo del pie
Hipersegmentación de la falange proximal del tercer dedo de la mano
Piel del tórax hiperelástica
Anomalía del pedúnculo cerebeloso
Anomalía del pedúnculo cerebeloso superior
Pedúnculo cerebeloso superior elongado
Aneurisma de la arteria mesentérica
Disminución del urato urinario
Disminución total de carnitina plasmática
Hipoplasia de la uña del quinto dedo del pie
Sindactilia cutánea completa de dedos 3-4 de la mano
Acuñamiento anterior de T12
Acuñamiento anterior de L2
Aumento del sulfito urinario
Aumento de tiosulfato urinario
Vasculitis de pequeños vasos
Bronquiolitis obliterante con neumonía organizada
Bronquiolitis obliterante
Infección del tracto respiratorio
Infección respiratoria aguda
Neumonía infecciosa aguda
Bronquiolitis
Neumonía por aspiración
Neumonía por aspiración aguda
Linfoma pulmonar
Hiperplasia nodular regenerativa del hígado
Granulomatosis hepática
Hiperplasia nodular linfoide intestinal
Anomalía del músculo pectoral
Perforación de retina
Hipoplasia unilateral del músculo pectoral mayor
Gliosis de la sustancia negra
Azoospermia no obstructiva
Azoospermia obstructiva
Azoospermia pretesticular
Espasmos musculares dolorosos intermitentes
Anormalidad en el metabolismo de la citrulina
Citrulina plasmática elevada
Hipocupremia
Dificultades en la alimentación
Nivel de LH  elevado
Angiopatía amiloide cerebral
Urticaria dermatografica
Hipoglucorraquia
Letargia paroxístico
Mielofibrosis
Pérdida de la audición inducida por aminoglucósidos
Catecolaminas urinarias elevadas
Ácido homovaníllico urinario elevado
Ácido vanililmandélico urinario elevado
Dopamina urinaria elevada
Cálculos biliares de colesterol
Cálculos biliares pigmentados
Cálculos biliares pigmentarios negros
Cálculos biliares de pigmentarios marrones
Vesícula atrésica
Heces acólicas
Osificación ectópica
Osificación ectópica en el tejido muscular
Osificación ectópica en el tejido del tendón
Osificación ectópica en ligamentos
Alteración de la fisiología de los neutrófilos
Recuento anormal de neutrófilos
Alteración de la morfología de los neutrófilos
Alteración de la actividad bactericida de los neutrófilos
Anomalía del tabique auricular
Aneurisma septal atrial
Aumento de la actividad del factor V
Hiperlactemia postprandial
Hiperglucemia postprandial
Paranoia
EEG con espigas generalizadas
EEG con múltiples espigas generalizadas
Auras psíquicas o experienciales
Aura afectiva
Auras mnemónicas
Deja vu o fenómeno de lo "ya visto"
Jamais vu o fenómeno de lo "jamás visto"
Auras alucinatorias
Auras ilusorias
EEG con ondas pico focales centrales
EEG con ondas pico focales frontales
EEG con ondas pico focales occipitales
EEG con ondas pico focales parietales
EEG con ondas pico focales temporales
EEG con espigas focales centrales
EEG con espigas focales frontales
EEG con espigas focales occipitales
EEG con espigas focales parietales
EEG con espigas focales temporales
Luxación de cristalino
Arco aórtico derecho
Ductus venoso patente persistente
Cortocircuito  venoso portosistémico congénito
Galactosuria
Hipergalactosemia
Anomalía del metabolismo de la ornitina
Hiperornitinemia
Edema laríngeo
Adenoma hepatocelular
Alteración del nivel de hormonas en la orina
Elevación del nivel de cortisol urinario
Tumor lipomatoso
Lipoma
Lipoma sacro
Liposarcoma
Esteatocistoma múltiple
Amiotrofia esternocleidomastoidea
Amiotrofia de músculo pectoral
Córnea guttata
Pliegues en la membrana de Descemet
Edema del estroma corneal
Disminución de la fertilidad en los hombres
Asma inducida por aspirina
Nistagmo pendular
Nistagmo en balancín
Manchas de retina
Arreflexia de miembros superiores
Hemeralopia
Distonía oromandibular
Distonía laríngea
Anasarca
Hipoglucemia reactiva
Calcitriol sérico bajo
Calcifediol sérico bajo
Melanoma de coroides
Melanoma de cuerpo ciliar
Melanoma cutáneo
Melanoma de extensión superficial
Melanoma nodular
Melanoma léntigo maligno
Melanoma lentiginoso acral
Excreción urinaria de oligosacáridos sialisados
Quiste óseo
Quiste óseo aneurismático
Quiste óseo unicameral
Múltiples lesiones quísticas óseas
Aumento de la excreción urinaria de disacárido
Glicopeptiduria
Aspartilglucosaminuria
Excreción de keratan sulfato en orina
Excreción urinaria de sulfato de condroitina
Aciduria
Perfil de la acilglicina urinaria anormal
Pupila tónica
Trastorno de la personalidad
Trastorno de personalidad límite
Trastorno de personalidad histriónica
Bloqueo en la conducción motora
Alteración en la conducción motora central
Atrofia de la capa granular del cerebelo
Aumento en el tamaño del cerebelo
Atrofia de la lámina de Purkinje del cerebelo
Cuerpos de inclusión cerebral ubiquitina-positivos
Anomalía del tamaño de la fibra muscular esquelética
Piuria
Color urinario anormal
Forma mitocondrial anormal
Olor de orina anormal
Arteritis
Anormalidad de la morfología de páncreas
Anormalidad de la fisiología del páncreas
Anormalidad de la fisiología del páncreas exocrino
Anormalidad de la fisiología del páncreas endocrino
Tamaño de páncreas anormal
Luxación articular múltiple
Quiste epidermoide intracraneal
Quiste dermoide intracraneal
Edema del dorso de los pies
Alteración del nivel plasmático de catecolaminas
Nivel de creatinina circulante anormal
Disminución de la creatinina sérica
Número anormal de mitocondrias
Anomalía de la mitocondria
Atrofia cortical parietal
Atrofia cortical occipital
Acortamiento rizomélico de la pierna
Aumento de diámetro del peroné
Glaucoma primario de ángulo abierto
Glaucoma primario de ángulo cerrado
Hipoplasia de la protuberancia
Alteración del nivel plasmático de glucocorticoides
Alteración del nivel plasmático de corticosterona
Anomalía del metabolismo de la creatina
Carcinoma endometrial
Hepatitis
Nivel de albúmina anormal
Hiperalbuminemia
Carcinoma de laringe
Metahemoglobinemia
Aciduria metilmalónica
Panuveitis
Uveítis anterior
Uveítis posterior
Uveítis intermedia
Cáncer de próstata
Cáncer de estómago
Uraciluria
Necrosis de los ganglios basales
Alteración de las células estromales de la médula ósea
Alteración de las células del linaje eritroide
Número anormal de los precursores eritroides
Hiperplasia eritroide
Hipoplasia eritroide
Eritropoyesis displásica
Alteración de las células del linaje mieloide
Granulopoyesis displásica
Número anormal de precursores granulocíticos
Hiperplasia granulocítica
Hipoplasia granulocítica
Alteración de las células del linaje linfoide
Carcinoma de células escamosas de páncreas
Alteración de las células del linaje de megacariocitos
Alteración de las células del linaje de monocitos
macrófagos
Alteración de múltiples linajes celulares de la médula ósea
Alteración del factor von Willebrand
Disminución de la cantidad de factor de von Willebrand
Mielodisplasia de múltiples linajes
Mielodisplasia de dos linajes
Mielodisplasia de linaje único
Hemotórax
Foveosquisis
Hipotrigliceridemia
Anhedonia
Disminución de la sensibilidad corneal
Hemofagocitosis
Atrofia cerebral subcortical
Disección de la arteria carótida
Disección de la arteria carótida interna
Disección de la arteria carótida interna intracraneal
Disección de la arteria carótida externa
Disección de la arteria carótida común
Aneurisma de la arteria carótida
Asterixis
Oligodactilia
Dermatilomanía
pellizcado cutáneo patológico
Tricotilomanía
Golpearse en la cabeza
Auto mutilación compulsiva
auto mordida compulsiva
Morderse las uñas
Torsión de la mano estereotipado
Balanceo corporal estereotipado
Taquicardia ortostática
Glioblastoma multiforme
Resistencia a la proteína C activada
Alteración de las células "natural killers"
Alteración de la fisiología de las células ";natural killers"
Disminución de la actividad de las células asesinas naturales
Distonía craneofacial
Necrosis quística de la media
Neuropatía por atrapamiento
Carcinoma de células escamosas de la orofaringe
Poliposis colónica hiperplásica
Hiperalfalipoproteinemia
Neuropatía del nervio mediano por compresión
Neuropatía por atrapamiento del nervio cubital a nivel del codo
Aumento de la concentración de protoporfirina eritrocitaria
Hiperemesis gravídica
Linfoma de Hodgkin
Linfoma de células T
Linfoma de células B
Linfoma cutáneo de células T
Linfoma anaplásico de células grandes
Hemiplejía episódica
Respiración irregular
Respiración de Cheyne-Stokes
Insulinoma
Poliposis colónica juvenil
Cefalea en racimos
Alteración de la protrombina
Disminución de la actividad de la protrombina
Aumento de la concentración de ácidos biliares en suero
Onicomicosis
Candidiasis vulvovaginal recurrente
Globozoospermia
Motilidad anormal del esperma
Reducción de la movilidad del esperma
Espermatozoides inmóviles
Leucemia mielomonocítica juvenil
Morfología renal anormal
Fisiología renal anormal
Tasa de filtración glomerular anormal
Disminución de la tasa de filtración glomerular
Aumento en la tasa de filtración glomerular
Microlitiasis testicular
Neuropatía por atrapamiento del nervio supraescapular
Aumento de porfobilinógeno urinario
Sarcoma de partes blandas de aspecto alveolar
Eritema nudoso
Granulomatosis de células epitelioides no caseoso
Ampollas pretibiales
Hemangiomatosis aracnoidea
Ruptura esplénica
Complejos inmunes circulantes
Oligodoncia de los dientes primarios
Teratoma ovárico
Estenosis ureteral asociada a cicatrices o infecciones
Cefalea tensional
Pleocitosis en líquido cefaloraquídeo
Desprendimiento regmatógeno de retina
Desprendimiento exudativo de retina
Intervalo qt acortado
Hematoma intramuscular
Agranulocitosis
Agranulocitosis inducida por medicamentos
Cloruro en sudor elevado
Aciduria urocánica
Hiperquilomicronemia
Atransferrinemia
Aumento de gotas de lípidos intramiocelulares
Atrofia del elevador del párpado superior
Atrofia del músculo recto superior
Anormal morfología del sistema genital
Determinación del sexo anormal
Sexo reverso
Parálisis del nervio oculomotor
Anosmia específica
Intervalo PR prolongado
Segmento ST anormal
Depresión del segmento ST
Elevación del segmento ST
Alteración de la morfología de las vías
Alteración de la morfología del epitelio respiratorio
Sarcoma de Ewing
Alteración del brazo de dineina de los cilios móviles
Ausencia de brazos externos de dineína
Ausencia de brazos internos de dineína
Organización anormal axonemal de los cilios móviles
Ausencia de brazos de dineína internos y externos
Alteración de la morfología del par de microtúbulos centrales de los cilios móviles
Alteración de la fisiología de los cilios móviles respiratorios
Alteración de la motilidad ciliar
Inmotilidad ciliar
Ausencia de la morfología del par de microtúbulos central de los cilios móviles
Discinesia ciliar
Alternancia de la onda t
Ausencia de los rayos radiales del axonema de los cilios
Liposarcoma mixoide
Anomalía del contenido de glucógeno muscular
Disminución del contenido de glucógeno muscular
Obstrucción episódica de la vía aérea superior
Onda j
Aumento de la íntima de la arteria carótida de espesor medio
Tenosinovitis del flexor digital de dedo de la mano
Hipoglicinemia
Anomalía del metabolismo de la serina
Hiposerinemia
Amiloidosis hepática
Ascitis quilosa
Erupción morbiliforme
Epífisis femoral distal pequeña
Epífisis tibial proximal pequeña
Fisiología anormal de hipotálamo
Morfología anormal del hipotálamo
Secreción disminuida de la hormona hipotalámica liberadora de hormona luteinizante
Neoplasia de cabeza y cuello
Neoplasia facial
Neoplasia de la boca
Fusión de las encías
Pigmentación genital anormal
Anomalía del hueso occipital
Falange media del dedo de la mano delgada
Falange distal del dedo de la mano delgada
Falange proximal del dedo de la mano delgada
Falange media del dedo de la mano largo
Falange distal alargada de dedo de la mano
Agenesia ureteral
Perfil de isoforma de transferrina tipo ii
Encefalitis herpética
Anomalía del arco aórtico
Arco aórtico hipoplásico
Coartación del arco aórtico descendente
Osificación torácica anormal
Costillas en espátula
Disminución sérica de C9 del complemento
Amiloidosis cutánea
Recuento anormal de monocitos
Monocitosis
Monocitopenia
Ganglio de Heberden
Ganglio de Bouchard
Histiocitoma
Neoplasia del tejido fibroso
Artritis sacroilíaca
Neuralgia occipital
Pigmentación ausente del abdomen
Pigmentación ausente de las extremidades
Aciduria d-2-hidroxiglutárica
Perifoliculitis
Mioclonías del sueño
Leucemia mieloide
Leucemia mielomonocítica crónica
Anomalía de la arteria celíaca
Compresión de la arteria celíaca
Cementoma
Angioma en penacho
Pielonefritis
Morfología anormal del sistema nervioso autónomo
Fisiología anormal del sistema nervioso autónomo
Alteración en la regulación sudomotora
Colestasis extrahepáticas
Anomalía del metabolismo del ácido fólico
Concentración reducida de 5-metiltetrahidrofolato en líquido cefalorraquídeo
Homeostasis anormal
Gasto de energía anormal
Aumento del gasto energético en reposo
Disminución del gasto energético en reposo
Microprolactinoma
Macroprolactinoma
Disminución de la ferritina en suero
Morfea
Glicosilación anormal
Glicosilación anormal de proteínas
Disminución de la galactosilación de n-glicosilación de la proteína ligada
Sialilación anormal de n-glicosilación de proteínas
Disminución de la sialilación de n-glicosilación de la proteína ligada
Aumento de la sialilación de n-glicosilación de la proteína ligada
Fucosilación anormal por n-glicosilación de proteínas
Disminución de la fucosilación de n-glicosilación de la proteína ligada
Aumento de la fucosilación de n-glicosilación de la proteína ligada
Manosilación anormal de n-glicosilación de proteínas
Disminución de manosilación unida a n-glicosilación de proteínas
Aumento de manosilación de n-glicosilación de la proteína ligada
Fucosilación anormal por o-glicosilación de proteínas
Disminución de la fucosilación de o-glicosilación de proteínas vinculadas
Aumento de la fucosilación de o-glicosilación de la proteína ligada
Sialilación anormal de o-glicosilación de proteínas
Disminución de la sialilación de o-glicosilación de proteínas vinculadas
Disminución de potasio en la orina
Hipofosfaturia
Invaginación basilar
Fontanelas extra
Perfil facial plano
Anomalía malar
Pómulos prominentes
Prominencia  del tercio medio de la cara
Morfología anormal del ojo
Fisiología anormal del ojo
Anomalía del globo
Quemosis
Microfaquia
Hemianopsia
Fatiga
Actividad anormal de la enzima
coenzima
Reducción de la actividad de carnitin o-palmitoitransferasa
Retraso de auto-alimentación del niño
Cortocircuito  de izquierda a derecha
Cortocircuito  bidireccional
Rinitis
Camptodactilia
Dedo gordo del pie ausente
Bronquitis
Bronquitis aguda
Hipotonía de una o más extremidades
Fisura anal
Hiporreflexia de miembros superiores
Hiporreflexia de la mandíbula
Alergia
Alergia a contrastes yodados
Alergia estacional
Disquinesia biliar
Aterosclerosis aórtica
Edema periférico
Úlcera por presión
Nivel de aldolasa anormal
Concentración de alfa-cetoglutarato anormal en orina
Aumento de la concentración de alfa-cetoglutarato en orina
Concentración de alfa-cetoglutarato disminuido en orina
Concentración anormal de citrato en orina
Hipocitraturia
Hipercitraturia
Marcha en tijera
Nefrocalcinosis medular
Nefrocalcinosis cortical
Aplasia pura de células rojas
Pubarquia prematura
Adrenarquia prematura
Incisivo central con muesca
Atrofia duodenal
Niveles de gases en sangre anormales
Hipercapnia
Hipocapnia
Hipoxemia
Hiperoxemia
Meconio en líquido amniótico
Ausencia congénita de prepucio
Hipertrofia de las vellosidades del plexo coroideo
Inercia colónica
Coriorretinitis
Úlcera estercoral
Drusas del nervio óptico
Anteversión exagerada del fémur
Calcáneo prominente
Aplasia
hipoplasia de la sustancia blanca cerebral
Hipoplasia de la sustancia blanca cerebral
Fatiga episódica
Fatiga crónica
Conducta social anormal
Retraso en el desarrollo social
Acortamiento ventral del prepucio
Enfermedad de arteria coronaria no oclusiva
Morfología anormal de la vesícula biliar
Fisiología anormal de la vesícula biliar
Fisiología anormal del tracto biliar
Morfología anormal del tracto biliar
Discinesia del esfínter de oddi
Discinesia vesicular
Alteración de la morfología cerebral
Atrofia cerebral progresiva
Nivel bajo de 5-metiltetrahidrofolato en líquido cefaloraquídeo
Mielinización anormal
Retraso en la mielinización
Sinovitis articulación sacroilíaca
Estreñimiento crónico
Estreñimiento agudo
Piernas inquietas
Contractura en flexión bilateral de la muñeca
Contractura unilateral en flexión de la muñeca
Calcificación de grandes arterias
Calcificación arterial en la capa media
Calcificación de la media de las arterias de tamaño mediano
Calcificación de la media de las arterias pequeñas
Cefalea hípnica
Vermis cerebeloso inferior dismórfico
Bacteriuria
Mioclonías en el mentón
Saturación de transferrina elevada
Disminución de la saturación de la transferrina
Concentración de hierro hepático elevada
Acidosis respiratoria crónica
Acidosis respiratoria aguda
Acidosis crónica
Espasmos infantiles
Ojos en sol poniente
Borde del bermellón grueso
Eclabion o eversión del labio
Atrofia lingual
Oclusión de la arteria carótida
Deficiencia de anticuerpos específicos
Deficiencia específica de anticuerpos neumocócicos
Temblor vocal
Anquilosis de la articulación temporomandibular
Crepitación de la articulación temporomandibular
Anormalidad de las venas cerebrales
Angioma venoso cerebral
Angioma venoso a nivel frontal
Gránulos alfa anormales
Gránulos densos anormales
Sistema canalicular abierto conectado a la superficie anormal
Mielitis
Quiste aracnoideo del ángulo cerebelopontino
Quiste aracnoideo intraventricular
Quiste aracnoideo supraselar
Paniculitis
Sistema tubular denso anormal
Estenosis de la arteria cerebral
Estenosis de la arteria cerebral media
Estenosis de la arteria cerebral anterior
Estenosis de la arteria cerebral posterior
Reducción de la presión inspiratoria máxima
Reducción de la presión espiratoria máxima
Cordón nucal
Disección aórtica descendente
Pápula verrugosa
Anomalía de la sustancia blanca del tallo cerebral
Anomalía de la cápsula interna
Alteración de la hipófisis
Tamaño anormal de la glándula pituitaria
Hipófisis aumentada de tamaño
Hipófisis pequeña
Debilidad del músculo orbicular de los párpados
Metamorfopsia
Globulina transportadora de tiroxina reducida
Acumulación de líquido cefalorraquídeo extra-axial
Palidez de región temporal del disco óptico
Palidez difusa del disco óptico
Dolor del miembro superior
Dolor de la extremidad inferior
Debilidad de la flexión de la cadera
Tetralogía de Fallot con atresia pulmonar
Reducción de la actividad de la catalasa
Anormalidad del polígono de Willis
Arteria comunicante posterior hipoplásica
Espacios perivasculares
Aplasia del nervio óptico
Hemangioma en forma de araña
Aversión oral
Forma de las plaquetas anormales
Distribución anormal de gránulos alfa
Ausencia de gránulos alfa
Contenido anormal de gránulos alfa
Número anormal de gránulos alfa
Contenido anormal de gránulos densos
Número anormal de gránulos densos
Dolor
Dolor crónico
Alodinia
Disestesia
Transmisión sináptica anormal
Anticuerpos anticardiolipina materno positivos
Intolerancia alimentaria
Intolerancia al gluten
Linfoma no Hodgkin
Quiste epidermoide axilar
Cefalohematoma neonatal
Onicauxia
Hemosiderinuria
Nivel de aldolasa elevada
Reducción del nivel de aldolasa
Inactivación preferencial del cromosoma X materna
Movimientos oculares involuntarios anormales
Infiltración grasa del músculo esquelético
Lipoma conjuntival
Várices del colon
Ausencia de los gránulos específicos de neutrófilos
Aumento de las proyecciones nucleares de los neutrófilos
Hipoplasia de la uña del pulgar
Ausencia de uñas
Ausencia de uña del hallux
Hiperbetaalaninemia
EEG con ondas pico focales centrotemporales
Relación T3
T4 anormal
Aumento de la relación T3
T4
Relación T3
T4 disminuida
Válvula aórtica unicúspide
Fusión epimetafisiaria prematura en la mano
Fusión epimetafisiaria prematura en el pie
Fusión epimetafisiaria prematura en la tibia
Fusión epimetafisiaria prematura en el peroné
Fusión prematura epimetafisiaria en radio
Fusión epimetafisiaria prematura en el cúbito
Edema del párpado inferior
Retraso de la menarquia
Sarcoma sinovial
Duplicación y fusión del uréter
Duplicación del uréter
Tubulopatía proximal global
Proliferación mesangial
Anormalidad de la nefrona
Nefropatía c3
Membrana basal glomerular delgada
Nefropatía membranosa
Glomerulonefritis de cambios mínimos
Nefrolitiasis por fosfato de calcio
Quiste renal solitario
Displasia renal bilateral
Hipoplasia renal unilateral
Hipoplasia renal bilateral
Atrofia renal
Atrofia renal bilateral
Hematuria macroscópica
Síndrome nefrótico resistente a esteroides
Síndrome nefrótico resistente a múltiples fármacos
Producción anormal de la orina
Concentración de electrolitos urinarios anormal
Albuminuria
Proteinuria en rango nefrótico
Microalbuminuria
Proteinuria leve
Proteinuria moderada
Proteinuria pesada
Concentración de potasio urinario anormal
Concentración de fosfato urinario anormal
Concentración anormal de cloruro en orina
Hipocloriduria
Pérdida renal de cloro
Concentración de sodio urinario anormal
Hiponatriuria
Hipernatriuria
Perdida renal de sodio
Concentración de magnesio anormal de la orina
Hipermagnesiuria
Hipomagnesiuria
Anormalidad en la concentración de ácido úrico urinario
Aumento de urato urinario
Concentración de sulfato urinario anormal
Aumento del sulfato urinario
Citología anormal de la orina
Cilindruria
Cilindros leucocitarios
Cilindruria eritrocítica
Quiste del uraco
Divertículos múltiple en la vejiga
Anormalidad cloacal
Cloaca persistente
Enfermedad renal crónica
Enfermedad renal crónica estadio 1
Enfermedad renal crónica estadio 2
Enfermedad renal crónica estadio 3
Enfermedad renal crónica estadio 4
Pseudoexfoliación
Anomalía del ligamento suspensorio del cristalino
Facodonesis
Anomalía de la malla trabecular
Depósitos de pigmento en la malla trabecular
Presión intraocular anormal
Asimetría de la presión intraocular
Dispersión del pigmento del iris
Hipoperfusión del iris
Oclusión de la vena retiniana
Pérdida renal de calcio
Alteración en la fisiología del sistema nervioso
Alteración en la morfología del sistema nervioso
Presión intracraneana anormal
Presión intracraneal disminuida
Agenesia cerebelosa
Hipopigmentación foveal
Aumento de lactato en núcleo caudado
Aumento en el tamaño de nervios periféricos
Testículo retráctil
Respuesta inflamatoria anormal
Disminución de la respuesta inflamatoria
Aumento de la respuesta inflamatoria
Polimicrogiria perisilviana
Abasia paralítica
Asma inducida por el ejercicio
Estado asmático
Niveles anormales de dopamina en líquido cefaloraquídeo
Niveles elevados de dopamina en líquido cefaloraquídeo
Reducción del nivel de dopamina en el líquido cefalorraquideo
Tomografía por emisión de positrones cerebral anormal
Tomografía por emisión de positrones cerebral con fdg  anormal
Hipometabolismo prefrontal en tomografía por emisión de positrones pet con fdg
Hipometabolismo talámico en en tomografía por emisión de positrones pet con fdg
Hipometabolismo en hipotálamo por tomografía de emisión de positrones con fdg
Hipometabolismo parietal en la tomografía por emisión de positrones PET con fdg
Fracción de eyección reducida ligeramente
Fracción de eyección reducida
Fracción de eyección moderadamente reducida
Fracción de eyección severamente reducida
Anomalía de movimiento de la pared ventricular regional izquierda
Síncope vasovagal
Síncope del seno carotídeo
Síncope ortostático
Abulia
Mutismo aquinético
Aplasia de la vagina superior
Aplasia de la vagina inferior
Acumulación de hierro en el cerebro
Acumulación de cobre en el cerebro
Acumulación de hierro en el globo pálido
Acumulación de hierro en la sustancia negra
Ensanchamiento de la distancia interpedicular
Alteración de la glándula pineal
Alteración de la morfología pineal
Calcificación de la glándula pineal
Quiste pineal
Volumen pineal anormal
Disminución del volumen pineal
Aumento del volumen pineal
Agenesia de la glándula pineal
Alteración de la fisiología pineal
Secreción pineal de melatonina anormal
Tálamo hipointenso en t2
Lesión focal hipointensa en t2 del tálamo
Lesión focal hiperintensa en t2 del tálamo
Tamaño anormal del tálamo
Aumento en el volúmen talámico
Disminución en el volumen talámico
Alteración en la intensidad de la señal del tálamo en la resonancia magnética nuclear
Ganglios basales pequeños
Gliosis del cerebelo
Anomalía de la diáfisis de los miembros inferiores
Fisiología anormal del intestino grueso
Urgencia intestinal
Tenesmo
Anomalía del espacio subaracnoideo
Espacio subaracnoideo aumentado
Alteración metabólica en imagen cerebral por espectrometría de resonancia magnética nuclear
Nivel de colina elevado en cerebro por resonancia magnética nuclear por espectrometría
Nivel de lactato elevado en cerebro por resonancia magnética nuclear por espectrometría
Nivel cerebral disminuído de n-acetil aspartato en la resonancia magnética por spectroscopia
Razón colina
creatinina anormal en cerebro por espectrometría de resonancia magnética nuclear
Uñas encarnadas
Retraso en la osificación de las epífisis vertebral
Discapacidad auditiva
hipoacusia leve
Discapacidad auditiva
hipoacusia moderada
Discapacidad auditiva
hipoacusia grave o severa
Discapacidad auditiva
hipoacusia profunda
Discapacidad auditiva
hipoacusia de conducción moderada
Discapacidad auditiva
hipoacusia de conducción grave o severa
Anormalidad morfológica del tracto gastrointestinal
Anormalidad funcional del tracto gastrointestinal
Neoplasia de la cavidad nasal
Malformación venosa
El bloqueo cardíaco
Bloqueo sinoauricular
Edema del párpado superior
Sindactilia cutánea
Hipocalemia episódica
Aneurisma de la aorta torácica
Aneurisma de aorta torácica descendente fusiforme
Aneurisma de aorta torácica descendente sacular
Ausencia de lengua, aglosia
Hipófisis anterior ectópica
Anomalía anorrectal
Mácula
Hipoglucemia cetósica
Tos
Retraso global profundo del desarrollo
Pólipo del intestino delgado
Agenesia del canino
Agenesia del intestino delgado
Papiloma
Criptorquidia unilateral
Uña fina del dedo de la mano
Obesidad abdominal
Aplasia del fémur
Hendiduras palpebrales cortas
Uña fina del dedo del pie
Alteración en la intensidad de la señal del tallo encefálico por resonancia magnética nuclear
Lesión focal hiperintensa en t2 del tallo cerebral
Lesión focal hipointensa en t2 del tallo cerebral
Tronco cerebral hipointenso en t2
Alteración en la intensidad de la señal de ganglios basales en resonancia magnética nuclear
Lesión focal hipointensa en t2 de los ganglios basales
Ganglios basales hipointensos en t2
Hipermielinización del sistema nervioso central
Aumento en el tamaño del tallo cerebral
Pleocitosis a expensas de polimorfonucleares en líquido cefaloraquídeo
Morfología neuronal anormal
Retraso del desarrollo neurológico
Anomalía en el desarrollo neurológico
Reciprocidad social deteriorada
Ausencia del proceso mastoideo
Atrofia de la sustancia blanca cerebral
Disnea paroxística
Ortopnea
Espacio subaracnoideo cerebelar aumentado
Espacio subaracnoideo cerebelar aumentado
Tamaño anormal de la placenta
Asfixia neonatal
Envergadura anormal
Reducción de la longitud del brazo
Aumento de la longitud del brazo
Radio anormal segmento superior segmento inferior
Reducción del radio segmento superior inferior
Incremento del radio segmento superior inferior
Iris estrellado
Anomalía del cuerpo ciliar
Neoplasia de retina
Hamartoma astrocítico de retina
Discapacidad auditiva
hipoacusia transitoria
Neoplasias del oído
Pérdida auditiva para frecuencias medias
Restos nefrogénicos perilobulares
Restos nefrogénicos intralobares
Perinefritis
Contractura en flexión de los dedos de la mano
Cistitis recurrente
Pielonefritis recurrente
Pigmentación reticulada de la mucosa oral
Hipoplasia del calcáneo
Osificación intramembranosa anormal
Osificación anormal del húmero
Ausencia de osificación de los cuerpos vertebrales torácicos
Tallo cerebral torcido
Hipodensidades periventriculares de la sustancia blanca
Anomalía del disco óptico
Aumento del ratio copa-disco
Neoplasia de vaso linfático
Linfangiomiomatosis pulmonar
Parálisis facial unilateral
Sutura craneal accesoria
Mandíbula estrecha
Mandíbula ancha
Anisometropía
Ulceración de la córnea
Defecto de transiluminación del iris
Probóscide- Nariz en forma de trompa
Inserción alta de la columela
Base nasal anormal
Base nasal estrecha
Base nasal ancha
Cresta nasal
Relleno paranasal
Hipoplasia de mama unilateral
Hipoplasia bilateral de la mama
Genitales externos hipoplásicos femeninos
Cardiomiopatía no compactada de ventrículo derecho
Miocardiopatía no compactada
Miocardiopatía no compactada biventricular
Miocarditis
Parálisis bilateral de las cuerdas vocales
Paresia unilateral de cuerda vocal
Paresia bilateral de las cuerdas vocales
Tortuosidad vascular retiniana
Neoplasia de anejo cutáneo
Neoplasia de folículo piloso
Tricolemoma
Tricolemoma único, aislado
Trichilemmomas múltiples
Epilepsia parcial continua
Estenosis del intestino delgado
Sangrado del intestino delgado
Alteración de la motilidad del intestino delgado
Estenosis del colon
Fibrosis hepática puente
Hipospadias escrotal
Hipospadias perineales
Hiperpigmentación escrotal
Rugosidad escrotal anormal
Aumento en la rugosidad escrotal
Disminución en la rugosidad testicular
Leucoplasia esofágica
Fibrosis testicular
Ovotestes
Morfología anormal de células germinales
Morfología anormal de las células germinales masculinas
Morfología anormal de los espermatozoides
Anomalía de la cabeza del espermatozoide
Anomalía cuello del espermatozoide
Anomalía del segmento medio del espermatozoide
Anomalía en la cola de los espermatozoides
Espermatozoides acéfalos
Testículo evanescente
Varicocele
Morfología anormal de los conductos deferentes
Conductos deferentes ausentes
Fisiología anormal del sistema genital masculino
Eyaculación anormal
Eyaculación precoz
Eyaculación retrógrada
Eyaculación retardada
Aneyaculación
Anormalidad de los labios menores
Anormalidad de los labios mayores
Labios mayores hiperplásicos
Quiste trompa de Falopio
Torsión trompa de Falopio
Duplicación trompa de Falopio
Quiste ovárico hemorrágico
Cistoadenoma seroso de ovario
Anormalidad del cuello uterino
Endometriosis cervical
Ano de implantación posterior
Inserción posterior del cabello alta
Hipertrofia muscular facial
Hipertrofia del músculo del cuello
Hipertrofia del músculo paraespinal
Hipertrofia muscular escapular
Alteración en potenciales evocados motores
Alteración en potenciales evocados motores de miembros superiores
Alteración en potenciales evocados de miembros inferiores
Miotonía al apretar la mano
Miotonía de la cara
Miotonía de la mandíbula
Miotonía de la extremidad inferior
Miotonía de la extremidad superior
Miotonía sensible al frío
Euriblefaron
Marcha en puntillas
Héritage
Transmission autosomique dominante
Transmission autosomique récessive
Cystite
Infection urinaire
Hyperactivité vésicale
Diverticule
Rétention aiguë d'urine
Nycturie
Rétention aiguë d'urine
Incontinence urinaire
Hernie inguinale
Prostatite
Azoospermie
Cryptorchidie
Épididymite
Hydrocèle
Pseudohermaphrodisme
Hypogonadisme
Hypospadias
Hypospadias
Micropénis
Intersexuation
Sténose
Méga-uretère
Reflux vésico-urétéro-rénal
Néphropathie
Rein
Insuffisance rénale
Protéinurie
Hyalinose segmentaire et focale
Taille
Glomérulonéphrite
Syndrome néphrotique
Polyurie
Agénésie rénale
Néphropathie
Néphrite
Léiomyome utérin
Ménorragie
Hypogonadisme
Kyste ovarien
Aménorrhée
Syndrome de stein-leventhal
Macroglossie
Microstomie
Fente labio-palatine
Luette
Syndrome de pierre robin
Fente labio-palatine
Fente labio-palatine
Glossite
Trismus
Xérostomie
Insuffisance vélopharyngée
Gingivite
Hydrocéphalie
Trigonocéphalie
Sinusite
Brachycéphalie
Microcéphalie
Sinusite
Macrocéphalie
Mastoïdite
Dolichocéphale
Scaphocéphalie
Rétrognathisme
Épicanthus
Prognathisme
Hypertélorisme
Myokymie
Micrognathie
Acouphène
Otospongiose
Surdité
Otite
Otite
Otite
Épistaxis
Atrésie des choanes
Anosmie
Pterygium colli
Torticolis
Rétine
Astigmatisme
Strabisme
Rétinopathie
Énophtalmie
Kératite
Blépharite
Glaucome
Cécité
Malvoyant
Déficience visuelle
Canthus
Ptôse
Ptosis
Conjonctivite
Rétinite pigmentaire
Syndrome de parinaud
Cristallin
Cataracte
Exophtalmie
Aniridie
Anophtalmie
Cornée
Hypermétropie
Décollement de rétine
Myopie
Daltonisme
Daltonisme
Uvéite
Leucocorie
Buphtalmie
Kératocône
Microphtalmie
Cécité
Malvoyant
Déficience visuelle
Hémorragie rétinienne
Scotome
Rétinite pigmentaire
Colobome
Scotome
Dégénérescence maculaire liée à l'âge
Colobome
Photophobie
Myosis
Cécité
Déficience visuelle
Dacryocystite
Entropion
Paralysie supranucléaire progressive
Couleur des yeux
Nystagmus
Blépharospasme
Amblyopie
Diplopie
Double vision
Ectropion
Glaucome congénital de peters
Rétine
Nyctalopie
Synophridie
Hypodontie
Carie dentaire
Hypodontie
Diastème
Parodontite
Maladie parodontale
Trouble psychique
Psychose
Ennui
Syndrome pseudo-bulbaire
Trouble de la personnalité borderline
Agitation
Dépression
Dépression
Autisme
Agression
Saute d'humeur
Trouble obsessionnel compulsif
Psychose
Démence
Troubles du spectre autistique
Trouble envahissant du développement
Comportement stéréotypé
Irritabilité
Hallucination
Anxiété
Apathie
Automutilation
Délire
Trouble du déficit de l'attention avec ou sans hyperactivité
Agoraphobie
Insight
Neuropathie périphérique
Pectus excavatum
Pectus carinatum
Gynécomastie
Hernie diaphragmatique congénitale
Hernie diaphragmatique
Aménorrhée
Stérilité humaine
Hématurie
Maladie de berger
Oligospermie
Impuissance sexuelle
Utérus bicorne
Diabète sucré
Hypothyroïdie
Hypertension artérielle
Puberté précoce
Hypoparathyroïdie
Diabète de type 2
Intolérance au glucose
Hypoplasie congénitale des surrénales liée à l'x
Hyperthyroïdie
Hyperplasie congénitale des surrénales
Hyperparathyroïdie
Acromégalie
Insuffisance surrénalienne
Goitre
Résistance à l'insuline
Aménorrhée
Hyperprolactinémie
Panhypopituitarisme
Thyroïdite de hashimoto
Diabète insipide
Oligoménorrhée
Anomalie de sprengel
Chondrocalcinose
Ostéopénie
Ostéoporose
Ictère
Acanthosis nigricans
Xérodermie
Xérose
Cyanose
Hyperkératose
Dermatite
Eczéma
Anhidrose
Pétéchie
Hydrops
Œdème
Anhidrose
Liste des affections cutanées
Cutis laxa
Hyperhidrose
Sueur
Diaphorèse
La peau douce
Purpura
Pâleur
Exanthème
Prurit
Xanthome
Photosensibilité
Hypertrichose
Pyodermite
Lymphœdème
Hirsutisme
Télangiectasie
Hypopigmentation
Lipome
Érythrodermie
Albinisme
Urticaire
Hémangiome
Poïkilodermie
Érythème
Vitiligo
Dermatite atopique
Hémangiome caverneux
Dermite séborrhéique
Érysipèle
Aplasia cutis congenita
Ptérygion
Acrocyanose
Vergeture
Neurofibromatose
Maladie de fabry
Éléphantiasis
Lithiase biliaire
Cholécystite
Gérontoxon
Œdème papillaire
Glaucome congénital
Uvéite
Kératoconjonctivite
Sécheresse oculaire
Xérophtalmie
Hétérochromie
Uvéite
Albinisme
Albinisme oculaire lié à l'x
Neuropathie optique de leber
Xanthelasma
Champ visuel
Trichiasis
Dystrophie cornéenne
Choroïdérémie
Hand
Main
Brachydactylie
Syndactylie
Ectrodactylie
Syndrome de marfan
Triphalangie
Hippocratisme digital
Stupidité
Épilepsie
Ataxie
Spasticité
Paraplégie spastique familiale
Dysarthrie
Sommeil
somnolence
Ralentissement psychomoteur
Diplégie spastique
Démence
Hémiparésie
Dyspraxie
Polyneuropathie
Agénésie du corps calleux
Hypertonie musculaire
Hypertonique
Hypotension orthostatique
Syncope
Tétanie
Méningite
Accident vasculaire cérébral
Encéphalopathie
Syndrome d'oppenheim
Dystonie
Malformation de dandy-walker
Dysmétrie
Asthénie
Trouble d'apprentissage
Dystonie
Hydrocéphalie
Myoclonie
Tremblement
Agénésie du corps calleux
Lissencéphalie
Ictère nucléaire
Hyperréflexie
Déformation positionnelle
Plagiocéphalie
Holoproencéphalie
Craniosynostose
Arthrite
Polyarthrite rhumatoïde
Contracture
Luxation
Dislocation
Arthrose
Hyperlaxité
Luxation congénitale de la hanche
Hépatopathie
Cirrhose
Cirrhose
Cholestase
Stéatose hépatique
Insuffisance hépato-cellulaire
Carcinome hépatocellulaire
Hypertension portale
Insuffisance hépato-cellulaire
Transmission dominante liée à l’x
Transmission récessive liée à l'x
Locus de caractères quantitatifs
Génome mitochondrial
Mitochondrie
Membrane mitochondriale externe
Mutation
Hépatosplénomégalie
Mosaïque
Éphélide
Décollement du corps vitré
Fibrose congénitale des muscles oculo-moteurs
Retard de croissance staturo-pondérale
Retard de croissance staturo-pondérale
Retard de croissance intra-utérin
Obésité
Macrosomie fœtale
Hernie ombilicale
Omphalocèle
Diastasis des grands droits
Ascite
Laparoschisis
Overgrowth
Hydramnios
Oligoamnios
Saute d'humeur
Syndrome de cushing
Nystagmus
Alopécie
Koïlonychie
Dysphonie
Dysphonie
Enfant prématuré
Présentation podalique
Communication inter-ventriculaire
Prolapsus mitral
Insuffisance cardiaque
Tétralogie de fallot
Cardiomyopathie
Cardiomyopathie hypertrophique
Cardiomégalie
Persistance du canal artériel
Canal artériel
Cardiomyopathie dilatée
Mort subite
Bicuspidie valvulaire aortique
Tachycardie
Rétrécissement aortique
Dextrocardie
Insuffisance mitrale
Valvulopathie cardiaque
Syndrome du qt long
Infarctus du myocarde
Insuffisance aortique
Tronc artériel commun
Bradycardie
Fibrillation ventriculaire
Torsades de pointe
Transposition des gros vaisseaux
Maladie coronarienne
Bloc atrio-ventriculaire
Coarctation de l'aorte
Angine de poitrine
Ectopie cardiaque
Arrêt cardio-circulatoire
Situs inversus
Mésothéliome
Épanchement péricardique
Mort subite
Péricardite
Neurinome
Méningiome
Insuffisance cardiaque
Hypertrophie ventriculaire gauche
Cataracte
Syndrome de wolff-parkinson-white
Infirmité motrice cérébrale
Rétrécissement mitral
Ventricule droit à double sortie
Mouvements anormaux
Cardiomyopathie restrictive
Malformation artério-veineuse
Ostéomalacie
Pancréatite aiguë
Phimosis
Splénomégalie
Asplénie
Pied
Pied bot
Pied plat
Orteils en griffe
Rupture prématurée des membranes
Onychogryphose
Onycholyse
Panaris
Hallux valgus
Amaigrissement
Goutte
Thrombopénie
Neutropénie
Pancytopénie
Éosinophilie
Leucopénie
Pied bot
Lymphopénie
Anémie ferriprive
Thrombocytose
Polyglobulie
Anémie
Leucémie
Granulocyte
Anémie aplasique
Insuffisance rénale aiguë
Sténose de l'artère rénale
Acanthocytose
Chlorose
Léïomyosarcome
Sarcome
Tumeur desmoïde
Acidose
Fibrosarcome
Acidose métabolique
Hoquet
Charles osborne
Hypoglycémie
Ostéome
Déshydratation
Fièvre
Hyperthermie
Hémiballisme
Cétose
Acidose tubulaire rénale
Alcalose respiratoire
Ectrodactylie
Acidocétose diabétique
Plaque sénile
Obésité
Poignée d'amour
Polydipsie
Palpitation
Splénomégalie
Purpura thrombopénique idiopathique
Leucocytose
Rectocolite hémorragique
Antithrombine
Déficit en antithrombine iii
Maladie de crohn
Schizocyte
Hyperammoniémie
Arthrogrypose
Acidocétose
Goutte
Dysmorphie
Hématome sous-dural
Hématome extra-dural
Séquence de potter
Corps de lewy
Vomissement
Diarrhée
Dysphagie
Syndrome de lafora
Nausée
Constipation
Reflux gastro-œsophagien
Sténose du pylore
Sclérodermie
Syndrome de malabsorption
Douleur abdominale
Diarrhée
Atrésie de l'œsophage
Prolapsus rectal
Hernie hiatale
Maladie inflammatoire chronique de l'intestin
Anorexie mentale
Varice de l'œsophage
Syndrome de zollinger-ellison
Hypothermie
Hyperthermie maligne
Rigidité
Hypertonie musculaire
Ataxie
Syndrome extrapyramidal
Système moteur extrapyramidal
Chorée
Adiadococinésie
Migraine
Agénésie du corps calleux
Encéphalocèle
Maladie respiratoire
Hypoplasie
Pneumonie aiguë
Hypertension artérielle pulmonaire
Dyspnée
Bronchite chronique
Emphysème pulmonaire
Bronchopneumopathie chronique obstructive
Asthme
Syndrome de brooks
Pleurésie
Apnée
Hémoptysie
Pneumothorax
Pneumothorax
Bronche
Bronchectasie
Crise d'absence
Myoclonie
Polymicrogyrie
Porencéphalie
État de mal épileptique
Syndrome de fahr
Hémorragie méningée
Accident vasculaire cérébral
Myélopathie
Hyperuricémie
Hyperkaliémie
Hypertriglycéridémie
Homocystinurie
Trouble de la parole
Clonus
Hémorragie intra-cérébrale
Gliose
Compression médullaire
Opisthotonos
Maladie neurodégénérative
Œdème cérébral
Phonophobie
Enchevêtrement neurofibrillaire
Apraxie
Mastocytose
Pellagre
Myélopathie
Béribéri
Riboflavine
Épanchement pleural
Embolie pulmonaire
Fibrose pulmonaire
Scorbut
Pollakiurie
Cheveu
Anurie
Dysurie
Couleur des cheveux
Oligurie
Thymome
Blastome pleuropulmonaire
Fasciite
Hernie crurale
Démence
Hémorragie digestive
Hépatomégalie
Entéropathie
Sténose carotidienne
Diverticule de meckel
Tendinose
Hématémèse
Melæna
Maladie de hirschsprung
Inégalité de longueur des membres inférieurs
Hyperekplexie héréditaire
Dystonie
Tétraplégie
Amaurose fugace
Syndrome de claude bernard-horner
Endobrachyœsophage
Polypose naso-sinusienne
Endocardite
Paraphimosis
Blondeur
Fistule anale
Alopécie
Diphallia
Œdème aigu du poumon
Éclampsie
Rousseur
Couleur des cheveux
Pré-éclampsie
Trichothiodystrophie
Pré-éclampsie
Mutisme
Hémiparésie
Dysménorrhée
Athétose
Métrorragie
Dribble
Hypersialorrhée
Malformation d'arnold-chiari
Syndrome de meige
Cancer de l'ovaire
Myosite
Clumsy
Céphalée
Myélopathie
Vertige
Étourdissement
Tremblement
Anencéphalie
Hydranencéphalie
Accident ischémique transitoire
Œsophagite
Sommeil
somnolence
Cystocèle
Maladie de basedow
Hydrocéphalie à pression normale
Thyroïdite
Diabète de type 1
Névrite optique
Névrite optique
Amnésie
Oubli
Cellulite
Névralgie du trijumeau
Aphasie
Dyskinésie
Trouble du sommeil
Œdème de quincke
Angio-œdème héréditaire
Hallucination
Convulsion hyperthermique du nourrisson
Fasciculation
Aphasie
Tumeur des glandes salivaires
Encéphalite
Enthésiopathie
Paraplégie
Lipœdème
Cicatrice
Impulsivité
Malformation artério-veineuse cérébrale
Myokymie
Automutilation
Spina bifida
Leucodystrophie
Rupture utérine
Lymphadénopathie médiastinale
Tumeur stromale gastro-intestinale
Dermatose
Thrombophilie
Histiocytose
Aphasie expressive
Boulimie
Spina bifida
Dyscalculie
Douleur thoracique
Tétraplégie
Cancer de l'œsophage
Atélectasie
Schizophrénie
Hippocratisme digital
Gangrène
Dystonie neurovégétative
Hémobilie
Malformation lymphatique
Synovite
Choriocarcinome
Hyperostose
Spina bifida
Cryoglobulinémie
Réflexe archaïque
Réflexe
Encéphalopathie hépatique
Insomnie
Hypersomnie
Myotonie
Hyperkinésie
Leucémie aiguë
Acantholyse
Orchite
Paraplégie spastique familiale
Leucoaraiose
Ataxie spinocérébelleuse
Sepsis
Torsion testiculaire
Halitose
Maladie d'alzheimer
Tache mongoloïde
Hypertension intra-crânienne
État hypnagogique
Chéilite
Hypsarythmie
Hyperlymphocytose
Cataplexie
Galactorrhée
Neurone
Myodésopsie
Glioblastome multiforme
Dysplasie septo-optique
Choc anaphylactique
Polythélie
Péricardite constrictive
Cardiopathie congénitale
Stéatorrhée
Achalasie
Calice
Hématochézie
Dysenterie
Gastroparésie
Volvulus
Colite
Péritonite
Vomissement
Ulcère gastro-duodénal
Iléus paralytique
Polyphagie
Ulcère gastro-duodénal
Incontinence fécale
Maladie cœliaque
Cirrhose biliaire primitive
Cirrhose biliaire primitive
Hypotension artérielle
Anévrisme
Varice
Dissection aortique
Thrombose veineuse profonde
Vascularite
Thrombose veineuse superficielle
Syndrome de budd-chiari
Os wormien
Dissection aortique
Scoliose
Liste des maladies constitutionnelles de l'os
Dysplasie polyépiphysaire
Hyperesthésie
Timidité
Néoplasie
Oncologie
Cancer
Lymphome
Phéochromocytome
Tumeur de wilms
Paragangliome
Ostéosarcome
Carcinome basocellulaire
Craniosynostose
Adénopathie
Immunodéficience
Lupus érythémateux disséminé
Rachitisme
Ostéomalacie
Ostéomyélite
Arthrose
Trachée
Trachéomalacie
Infection aiguë des voies respiratoires inférieures
Tachypnée
Hypoventilation
Ostéolyse
Arthrogrypose
Arthrogrypose
Cyphose
Coxa-vara
Queue
Arthralgie
Aspiration
Adénopathie
Genu valgum
Méningiome
Rhabdomyosarcome
Carcinome épidermoïde
Mélanome
Cancer de la vessie
Syndrome myélodysplasique
Dyspnée
Hyperventilation
Hépatoblastome
Épendymome
Léïomyosarcome
Cancer du pancréas
Carcinome hépatocellulaire
Cancer du foie
Hypokaliémie
Hypocalcémie
Hyponatrémie
Bilirubine
Acidémie méthylmalonique
Myoglobinurie
Éventration
Lordose
Cyphose
Syndrome de klippel-feil
Tassement vertébral
Granulome
Maladie auto-immune
Genu varum
Genu varum
Cancer du sein
Cancer du côlon
Neuroblastome
Maladie de menkès
Pronation douloureuse
Hypercalcémie
Hyperglycémie
Glycosurie
Hyperlipémie
Pronation douloureuse
Arthrite septique
Dyslipidémie
Hypercholestérolémie
Acidose lactique
Cystathioninurie
Hyperoxalurie
Mamelon inversé
Rhinite allergique
Myopathie
Syndrome merrf
Rhabdomyolyse
Fonte musculaire
Amyotrophie
Proaccélérine
Hypernatrémie
Hypogonadisme
Coagulopathie
Spina bifida
Spondylolisthésis
Spondylolyse
Lordose
Myalgie
Situs inversus
Steppage
Signe de gowers
Crampe
Syringomyélie
Paresthésie
Polypose recto-colique familiale
Daltonisme
Priapisme
Canal lombaire étroit
Mal de dos
Lombalgie
Myxoedème prétibial
Papule
Anneau de kayser-fleischer
Dermatose
Dermatose
Verrue
Dermatose
Angiosarcome
Polype colorectal
Paralysie
Handicap
Réflexe cutané plantaire
Anticorps antinucléaire
Hépatite
Nanisme
Hépatite
Hépatite
Purpura rhumatoïde
Mastocytose
Courbature
Dystrophie musculaire
Déficit en cofacteur à molybdène
Syndrome des antiphospholipides
Triméthylaminurie
Hémoglobinurie
Sulfite oxydase
Cellule spumeuse
Progressif
Dystrophies musculaires congénitales
Anticipation
Groupe sporadique
Utérus didelphe
Bruxisme
Nævus mélanocytaire
Psoriasis
Paralysie périodique
Insuffisance rénale chronique
Hypersialorrhée
Mortalité périnatale
Mortinatalité
Mortalité périnatale
Pénétrance
Luxation de l'épaule
Trouble du rythme cardiaque
Fistule obstétricale
Prise de poids
Cachexie
Entérocolite
Syndrome de prune belly
Malnutrition
Anorexie
Ulcère gastro-duodénal
Méconium
Agammaglobulinémie liée au sexe
Syndrome de crouzon
Elliptocytose héréditaire
Poïkilocytose
Insuffisance hépatique aiguë
Bronchite chronique
Hypertrichose
Syndrome de klippel-feil
Canal lombaire étroit
Flutter atrial
Tachycardie ventriculaire
Fibrillation atriale
Hépatite
Intolérance au lactose
Leucémie aiguë myéloblastique
Thrombopénie néonatale par allo-immunisation fœtomaternelle
Hémoglobinurie paroxystique nocturne
Facteur hageman
Déficit en protéine s
Éventration
Sténose et atrésie pulmonaire
Thrombose veineuse
Anévrisme aortique
Anévrisme intracrânien
Fistule artério-veineuse
Artériopathie oblitérante des membres inférieurs
Anévrisme de l'aorte abdominale
Arthrose
Fibrillation atriale
Retour veineux pulmonaire anormal
Insuffisance tricuspide
Genou
Fibrose rétropéritonéale
Helicobacter pylori
Syndrome de boerhaave
Diarrhée
Occlusion intestinale
Atrésie biliaire
Hémarthrose
Gastrite
Polype colorectal
Fausse couche
Dissection artérielle
Sténose carotidienne
Thrombose veineuse cérébrale
Thrombus
Dysplasie fibromusculaire
Stridor
Lymphopénie
Anémie
Leucémie myéloïde chronique
Maladie de waldenström
Anémie
Coagulation intravasculaire disséminée
Syndrome lymphoprolifératif
Insuffisance médullaire
Déficit en protéine c
Syndrome myéloprolifératif
Leucémie lymphoïde chronique
Hématologie
Syndrome hémolytique et urémique
Cancer du rein
Naevus
Brachydactylie
Alcaptonurie
Axis
Arthrite chronique juvénile
Maladie de legg-calvé-perthes
Brachydactylie
Pseudarthrose
Atrésie biliaire
Acidose respiratoire
Fructosémie
Diabète de type 2
Phénylcétonurie
Hyperhidrose
Pancréatite chronique
Nail-patella syndrome
Bronchite chronique
Pneumopathie interstitielle
Pneumopathie d'hypersensibilité
Adénocarcinome pulmonaire in situ
Syndrome lymphoprolifératif
Pneumopathie interstitielle
Pneumonie aiguë
Trouble ventilatoire obstructif
Arrêt cardio-circulatoire
Insuffisance hépatique aiguë
Hépatite virale
Extrasystole
Canal atrio-ventriculaire
Dissection de l'artère coronaire
Leucémie aiguë lymphoblastique
Cancer du pancréas
Chondrosarcome
Carcinome à cellules claires du rein
Angiomyolipome
Myélome multiple
Plasmocytome
Dystrophie musculaire des ceintures
Sclérose latérale amyotrophique
Encéphalocèle
Nystagmus
Amyotrophie spinale
Trouble du déficit de l'attention avec ou sans hyperactivité
Malformation d'arnold-chiari
Démence
Polyneuropathie
Syndrome de möbius
Paralysie faciale
Paralysie périodique hyperkaliémique
Faisceau pyramidal
Ataxie spinocérébelleuse
Amyotrophie spinale
Trouble du développement
Trouble bipolaire
Trouble de l'humeur
Panhypopituitarisme
Maladie neurodégénérative
Dystonie
Presbyacousie
Sclérose latérale amyotrophique
Maladie de farber
Dyskinésie tardive
Hidrosadénite
Périostite
Chéilite
Encoprésie
Ostéochondrite
Desquamation
Encéphalomalacie
Ichtyose
Albinisme
Rire sardonique
Syndrome de christ-siemens-touraine
Hyperkératose
Piébaldisme
Hyperkératose
Hyperkératose
Syndrome de christ-siemens-touraine
Nævus simplex
Daltonisme
Acuité visuelle
Maladie de best
Glaucome congénital de peters
Mélanome de la choroïde
Hétérochromie
Dégénérescence maculaire liée à l'âge
Amaurose congénitale de leber
Daltonisme
Vision du tunnel
Ichtyose
Phlyctène
Cancer de la peau
Hallux varus
Proconvertine
A-bêta-lipoprotéinémie
Résistance à l'insuline
Insuffisance surrénalienne
Maladie d'addison
Parathormone
Hypogonadisme
Insuffisance surrénalienne
Hyperplasie congénitale des surrénales
Hypoplasie congénitale des surrénales liée à l'x
Hypothyroïdie
Syndrome de williams
Diabète néonatal transitoire
Hyperplasie congénitale des surrénales
Abiotrophie cérébelleuse
Glucuronosyltransférase
Encéphalopathie glycinique
Facteur stuart
Vitamine b6
Ongle
Acouphène
Méga-uretère
Nécrose tubulaire aiguë
Hypertrophie bénigne de la prostate
Hallucination sonore
Lipodystrophie congénitale de berardinelli-seip
Atrophie musculaire progressive
Hernie diaphragmatique congénitale
Lipodystrophie
Neurinome de l'acoustique
Astrocytome
Cancer de la vessie
Rhabdomyome
Rhabdomyome
Gliome
Néphroangiosclérose
Distichiasis
Tératome
Cholestéatome
Diabète gestationnel
Hypodontie
Amelia
Phocomélie
Neuropathie périphérique
Neuropathie périphérique
Cyclopie
Anisocorie
Rétinoblastome
Arhinie
Stomatite
Ankyloglossie
Tongue split
Glossite
Spina bifida
Stridor
Chylothorax
Polydactylie
Rétrécissement tricuspide
Fistule anale
Intersexuation
Sirénomélie
Hallux
Toe
Orteil
Alexie
Trouble de la lecture
Dyslexie
Agnosie
Dysgraphie
Astéréognosie
Prosopagnosie
Écholalie
Ictus amnésique
Syndrome d'apnées du sommeil
Paraplégie
Chéloïde
Chalazion
Orgelet
Orgelet
Chalazion
Molluscum pendulum
Fibrome
Paralysie faciale
Énurésie nocturne
Kyste pilonidal
Fistule
Kyste pilonidal
Retour veineux pulmonaire anormal
Hyperacousie
Érythème
Appareil urinaire
Nævus sébacé
Trouble oppositionnel avec provocation
Anomalies de fermeture de la paroi antérieure
Ostéonécrose aseptique
Maladie de könig
Maladie d'osgood-schlatter
Maladie de scheuermann
Cataracte
Xanthinurie
Agénésie rénale
Hyperlipémie
Locus de caractères quantitatifs
Ostéosclérose
Ostéopétrose
Chronique
Aigu
Maladie de l'appareil digestif
Amylose
Oligurie
Hyperdontie
Hyperdontie
Gémination
Syndrome de west
Hypervolémie
Hypovolémie
Aphte
Sinusite
Angine
Fièvre
Anisocytose
Couleur des cheveux
Acanthose
Tache mongoloïde
Césarienne
Forceps
Dystocie des épaules
Hématome rétroplacentaire
Anomalie de pelger-huet
Cancer de l'œsophage
Mydriase
Diplocorie
Drusen
Achromatopsie
Daltonisme
Daltonisme
Daltonisme
Décollement de rétine
Syndrome d'ivemark
Ventricule unique
Rétrécissement mitral
Rétrécissement mitral
Syndrome du cimeterre
Atrésie tricuspide
Syndrome de tako-tsubo
Trouble du rythme cardiaque
Tachysystolie atriale
Maladie de l'oreillette
Bloc de branche
Bloc de branche
bloc de branche droit
Bloc de branche
Syndrome de conn
Hyperthyroïdie
Hémopéricarde
Plasmocytome
Lombosciatique
Thrombopénie induite par l'héparine
Hyphéma
Hémorragie de la délivrance
Thalassémie
Bronchiolite oblitérante avec organisation pneumonique
Bronchiolite oblitérante
Bronchiolite
Pneumopathie d'inhalation
Azoospermie
Azoospermie
Dysphagie
Angiopathie amyloïde
Dermographisme
Splénomégalie myéloïde
Paranoïa
Déjà-vu
Jamais vu
Galactosémie
Œdème
Adénome hépatocellulaire
Lipome
Liposarcome
Syndrome de widal
Héméralopie
Dystonie oromandibulaire
Dysphonie spasmodique
Anasarque
Mélanome de la choroïde
Géode osseuse
Trouble de la personnalité
Trouble de la personnalité borderline
Trouble de la personnalité histrionique
Pyurie
Artérite
Glaucome
Cancer de l'endomètre
Hépatite
Cancer du larynx
Méthémoglobinémie
Acidémie méthylmalonique
Uvéite
Cancer de la prostate
Cancer de l'estomac
Érythroblastopénie
Hémothorax
Anhédonie
Dissection d'une artère cervicale
Astérixis
Oligodactylie
Acné excoriée
Trichotillomanie
Headbang
Onychophagie
Glioblastome multiforme
Syndrome de meige
Lymphome de hodgkin
Respiration de cheyne-stokes
Algie vasculaire de la face
Onychomycose
Tératospermie
Érythème noueux
Rupture de la rate
Complexe immun
Céphalée de tension
Agranulocytose
Hyperlipémie
Sarcome d'ewing
Syndrome de shulman
Ascite
Cancer des voies aérodigestives supérieures
Encéphalite herpétique
Névralgie d'arnold
Angiome en touffes
Pyélonéphrite aiguë
Morphée
Microsphérophakie
Hémianopsie
Fatigue
Rhinite
Camptodactylie
Bronchite
bronchite aiguë
Fissure anale
Allergie
Allergène
Escarre
Hypercapnie
Hypocapnie
Hypoxémie
Hyperoxie
Constipation
Choriorétinite pigmentaire
Syndrome de fatigue chronique
Syndrome des jambes sans repos
Algie vasculaire de la face
Bactériurie
Syndrome de west
Myélite
Panniculite
Angiome stellaire
Allodynie
Dysesthésie
Intolérance alimentaire
Intolérance au gluten
Lymphome non hodgkinien
Céphalhématome
Glomérulonéphrite extra-membraneuse
Syndrome néphrotique idiopathique de l'enfant
Hématurie
Microalbuminurie
Insuffisance rénale chronique
Occlusion de la veine centrale de la rétine
Cryptorchidie
Abasie
Malaise vagal
Syncope
Apragmatisme
Ongle incarné
Malformation artério-veineuse
Bloc sino-atrial
Dermatose
Toux
Papillome
Poignée d'amour
Orthopnée
Lymphangioléiomyomatose
Anisométropie
Proboscis
Non-compaction ventriculaire gauche
Myocardite
Intensité
Borderline
Position
Latéralité
Local
Système de référence en anatomie
Système de référence en anatomie
Épilepsie partielle continue
Ovotestis
Tératospermie
Anorchidie
Varicocèle
Éjaculation précoce
Éjaculation rétrograde
Anéjaculation
Kyste ovarien
Lagophtalmie
Lagophtalmie
Hyperperméabilité capillaire
Hygiène intime féminine
Dyspareunie
Vaginisme
Abcès cérébral
Narcolepsie
Craniopharyngiome
Neurocytome
Tumeur neuroectodermique primitive
Tumeur neuroectodermique primitive
Paragangliome
Carcinome canalaire in situ
Adénocarcinome pulmonaire
Cancer du col utérin
Lymphome de burkitt
Clinodactylie
Vertèbre lombaire
Endométriose
Borborygme
Souffle cardiaque
Choc cardiogénique
État de choc circulatoire
Angiocholite
Cholangiocarcinome
Douleur abdominale
Cervicite
Sueurs nocturnes
Tremblement
Syllogomanie
Apathie
Hypersexualité
Inertie
Démence sémantique
Persévération
Thrombose de la veine porte
Syndrome de budd-chiari
Ischémie mésentérique
Énanthème
Pachydermopériostose
Perlèche
Carcinome pulmonaire à petites cellules
Carcinome pulmonaire à grandes cellules
Tumeur neuroendocrinienne
Névrome
Pilomatrixome
Tumeur carcinoïde pulmonaire
Carcinome à cellules de merkel
Sarcome des tissus mous
Hémianopsie latérale homonyme
Hémianopsie
Hémianopsie bitemporale
Central
Périphérique informatique
Verre progressif
Catégorie
उत्तराधिकार
मूत्र मार्ग संक्रमण
सिस्टायटिस
रात्रि बहुमूत्री
अशुक्राणुता
मध्यलिंगता
संकीर्णता
गुर्दा
अनार्तव
कटे-फटे होंठ व तालु
कटे-फटे होंठ व तालु
कटे-फटे होंठ व तालु
मसूड़ा अतिविकसन
जलशीर्ष
साइनोसाइटिस
साइनोसाइटिस
बधिरता
मध्यकर्णशोथ
मध्यकर्णशोथ
मध्यकर्णशोथ
नकसीर फूटना
घ्राणहानि
नेत्ररोग
दृष्टि पटल
कांचबिंदु
अन्धता
नेत्र शोथ
मोतियाबिंद
स्वच्छमण्डल
निकटदृष्टि
वर्णान्धता
वर्णान्धता
यूवाइटिस
अन्धता
अन्धता
अक्षिदोलन
मंददृष्टि
दृष्टि पटल
रतौंधी
दन्त-क्षरण
मनोविकार
मनस्ताप
एकध्रुवीय अवसाद
स्वलीनता
आक्रामकता
मनोग्रसित-बाध्यता विकार
मनस्ताप
मनोभ्रंश रोग
विभ्रांति
चिंता
उदासीनता
आत्मक्षति
भ्रमासक्‍ति
ध्यानाभाव एवं अतिसक्रियता विकार
जनातंक
तंत्रिकाशोथ
गाइनेकोमैस्टिया
अनार्तव
वृक्क अश्मरी
अनुर्वरता
वृक्क अश्मरी
स्तंभन दोष
मधुमेह
हाइपोथाइरॉयडिज़्म
उच्च रक्तचाप
विकास हार्मोन की कमी
मधुमेह टाइप 2
हाइपरथाइरॉयडिज़्म
विकास हार्मोन की कमी
घेंघा रोग
अनार्तव
मूत्रमेह
ऑस्टियोपोरोसिस
पीलिया
छाजन
त्वचाशोथ
ड्रॉप्सी
पसीना
रक्तचित्तिता
खुजली
त्वचा का रंग बदलना
रंगहीनता
शीतपित्त
विटिलिगो
त्वग्वसास्राव
खिंचाव के निशान
पित्ताशय की पथरी
यूवाइटिस
यूवाइटिस
रंगहीनता
हाथ
अपस्मार
मनोभ्रंश रोग
तानिकाशोथ
पक्षाघात
मांसपेशियों की कमजोरी
जलशीर्ष
संधि शोथ
आमवातीय संधिशोथ
अस्थिसंध्यार्ति
लीवर सिरोसिस
लीवर सिरोसिस
माइटोकाण्ड्रियाई डीएनए
सूत्रकणिका
उत्परिवर्तन
बाल विकास
जन्म के समय वजन
मोटापा
नाभि-हर्निया
जलोदर
अक्षिदोलन
गंजापन
अपरिणत प्रसव
हृदयाघात
मंदनाड़ी
इक्टोपिया कॉर्डिस
पूर्णहृदरोध
मेसोथेलियोमा
मोतियाबिंद
प्रमस्तिष्क घात
घनास्रता
अग्न्याशय के रोग
अग्नाशयशोथ
अस्थिमृदुता
फाइमोसिस
स्प्लेनोमेगाली
अस्प्लेनिया
वातरक्त
न्यूट्रोपेनिया
रक्ताल्पता
घनास्रता
रक्त का कैंसर
अधोमधुरक्तता
शरीर का निर्जलीकरण
ज्वर
अतिताप
मोटापा
स्प्लेनोमेगाली
अज्ञातहेतुक बिंबाणुअल्पताजन्य रक्तचित्तिता
वातरक्त
उल्टी
अतिसार
कब्ज
एसिडिटी
पेट दर्द
अतिसार
प्रदाहक आन्त्र रोग
एनोरेक्सिया नर्वोज़ा
हाईपोथर्मिया
अधकपारी
श्वसन तंत्र के रोग
निमोनिया
श्वास कष्ट
क्रॉनिक ऑब्सट्रक्टिव पल्मोनरी डिसीस
वातस्फीति
दमा
वातिलवक्ष
वातिलवक्ष
ब्रोन्किइक्टेसिस
पक्षाघात
वाग्बाधा
चेष्टा-अक्षमता
बेरीबेरी
रिबोफ्लेविन
स्कर्वी
बाल
अलोपेसिया अरीटा
मनोभ्रंश रोग
महाबृहदांत्र
गंजापन
कष्टार्तव
सिरदर्द
भ्रमि
चक्कर
स्मृतिलोप
त्रिपृष्ठी तंत्रिकाशूल
वाचाघात
निद्रा विकार
वाहिकाशोफ
विभ्रांति
बुखारी दौरे
वाचाघात
मस्तिष्क ज्वर
आत्मक्षति
चर्म रोग
मनोविदलता
कोथ
अनिद्रा
हर्निया
सांस की दुर्गंध
अलजाइमर रोग
न्यूरॉन
प्लवमान पिंड
तीव्रग्राहिता
पेचिश
उल्टी
पैप्टिक अल्सर
बद्धान्त्र
पैप्टिक अल्सर
निम्न रक्तचाप
धमनी विस्फार
अपस्फीत शिरा
धमनीकाठिन्य
मेरुवक्रता
लज्जा
फुलाव
अर्बुदविज्ञान
कर्कट रोग
फीयोक्रोमोसाइटोमा
लिम्फाडेनोपैथी
श्वेतशल्कता
सूखा रोग
अस्थिमृदुता
अस्थिसंध्यार्ति
श्वासनली
श्वासनली के निचले हिस्से का संक्रमण
लिम्फाडेनोपैथी
धनुर्जानु
स्क्वैमस सेल कार्सिनोमा
श्वास कष्ट
अग्नाशय कैंसर
बिलीरुबिन
स्वप्रतिरक्षा
स्वप्रतिरक्षित रोग
कोलोरेक्टल कैंसर
अतिकैल्शियमरक्तता
हायपर ग्लाईसीमिया
हाइपरलिपिडिमिया
अतिवसारक्तता
परागज ज्वर
झुनझुनी
वर्णान्धता
प्रायापिज़्म
चर्म रोग
चर्म रोग
मस्सा
चर्म रोग
निर्योग्यता
यकृत शोथ
यकृत शोथ
यकृत शोथ
कालमेह ज्वर
छाल रोग
भार वृद्धि
कुपोषण
पैप्टिक अल्सर
घनास्रता
क्रॉनिक ऑब्सट्रक्टिव पल्मोनरी डिसीस
अलिंदी स्फुरण
अलिंद विकम्‍पन
यकृत शोथ
परिधीय संवहिनी रोग
अस्थिसंध्यार्ति
अलिंद विकम्‍पन
अतिसार
आमाशयार्ति
गर्भस्राव
रक्ताल्पता
रक्ताल्पता
रक्तशास्त्र
मधुमेह टाइप 2
क्रॉनिक ऑब्सट्रक्टिव पल्मोनरी डिसीस
निमोनिया
पूर्णहृदरोध
अग्नाशय कैंसर
मल्टीपल माइलोमा
पेशीशोषी पार्श्व काठिन्य
अक्षिदोलन
ध्यानाभाव एवं अतिसक्रियता विकार
मनोभ्रंश रोग
द्विध्रुवी विकार
मनोदशा विकार
पेशीशोषी पार्श्व काठिन्य
रंगहीनता
वर्णान्धता
वर्णान्धता
हाइपोथाइरॉयडिज़्म
विटामिन बी६
सर्वाइकल स्पॉन्डिलोसिस
गुर्दे का कैंसर
गर्भकालीन मधुमेह
तंत्रिकाशोथ
तंत्रिकाशोथ
मध्यलिंगता
डिस्लेक्सिया
अंजनहारी
अंजनहारी
भगन्‍दर
मोतियाबिंद
हाइपरलिपिडिमिया
मुंह के छाले
साइनोसाइटिस
गलगुटिकाशोथ
ज्वर
शल्य प्रसव
वर्णान्धता
वर्णान्धता
वर्णान्धता
हाइपरथाइरॉयडिज़्म
सायटिका
थैलासीमिया
अशुक्राणुता
अशुक्राणुता
संविभ्रम
ड्रॉप्सी
सर्वांगशोथ
व्यक्तित्व विकार
कांचबिंदु
यकृत शोथ
यूवाइटिस
नखकवकता
तनाव सिरदर्द
हाइपरलिपिडिमिया
जलोदर
श्वसनीशोथ
एलर्जी
कब्ज
दीर्घकालिक थकान संलक्षण
चर्म रोग
सामान्यीकरण
शीघ्रपतन
योनि रोग
महिला कामोत्तेजना विकार
सर्वाइकल कैंसर
पेट दर्द
उदासीनता
जड़त्व
विसरण
tutto
anomalia dell'altezza del corpo
displasia Rene Multicistico
modalità di trasmissione
Eredità
autosomica dominante
autosomica recessiva
anomalia dei genitali interni femminili
difficoltà nella minzione
infezioni ricorrenti delle vie urinarie
Infezione delle vie urinarie
Cistite
vescica neurogena
urgenza urinaria
ipoplasia dell'utero
anomalia della vescica
diverticoli della vescica
ritenzione urinaria
nicturia
esitazione urinaria
incontinenza urinaria
dilatazione del tratto urinario inferiore
anomalia dei genitali interni maschili
ernia inguinale
prostatite
anomalia funzionale dei genitali interni maschili
ipogonadismo maschile
azoospermia
criptorchidismo
atrofia testicolare
gonadoblastoma testicolare
epididimite
anomalia dei genitali esterni maschili
genitali maschili ambigui
testicolo idrocele
anomalia del testicolo
anomalia del pene
pseudoermafroditismo maschile
epispadia
ingrossamento del pene
chordee
genitali esterni assenti
ipogonadismo ipogonadotropo
anomalia dello scroto
ipoplasia scrotale
ipospadia
scroto bifido
scroto a scialle
ipoplasia dei genitali maschili
ipospadia perineale
atresia dell'uretra maschile
macroorchidismo
micropene
anomalia dei genitali esterni femminili
anomalia del clitoride
clitoridomegalia
anomalia delle labbra
ipoplasia delle grandi labbra
ipoplasia clitoridea
genitali femminili ambigui
genitali ambigui
fusione delle piccole labbra
ipoplasia delle piccole labbra
ipertrofia delle labbra
ipoplasia delle labbra
atresia dell'uretra femminile
atresia dell'uretra
anomalia dell'uretere
Ureterocele
stenosi ureterale
idrouretere
duplicazione ureterale
ostruzione della giunzione ureteropelvica
duplicazione renale
reflusso vescico-ureterale
anomalia del rene
Rene
Nefropatia
anomalia dell'apparato genitale
anormalità del sistema urinario
anomalia della fisiologia genitale
duplicazione del sistema collettore renale
insufficienza renale
rene a ferro di cavallo
rene ectopico
ipoplasia renale oligomeganefronica
nefronoftisi giovanile
anomalia del tubulo renale
atrofia tubulare
proteinuria
anomalie morfologiche dei glomeruli
glomerulosclerosi
glomerulosclerosi focale
alta statura
glomerulonefrite
sindrome nefrosica idiopatica
aumentata produzione di urina
agenesia renale
reni allargati
cisti renale
cisti renale corticomedullare
displasia renale
ipertrofia
iperplasia delle cellule giusta-glomerulari renali
nefropatia
reni policistici infantili
Malattia policistica renale
danno tubulare prossimale selettivo
perdita renale di fosfato
anormalità fenotipiche
malformazione del tratto urogenitale
nefrocalcinosi
agenesia renale monolaterale
nefrite cronica
disfunzione tubulare renale
rene pelvico
idronefrosi
perdita renale di sali
perdita renale di potassio
anomalia dell'utero
leiomioma uterino
menorragia
disgenesia gonadica
ipogonadismo femminile
ipogonadismo
utero bifido
anomalia delle ovaie
cisti ovariche
prolasso uterino
anomalia del ciclo mestruale
amenorrea
anomalia della vagina
fistola rettovaginale
diminuita fertilità
setto vaginale trasversale
ovaio policistico
atresia vaginale
gonadoblastoma ovarico
gonadoblastoma
aplasia dell'utero
anomalia della testa e del collo
anomalia della bocca
bocca larga
ulcera orale
anomalia della lingua
macroglossia
anomalia del labbro
bocca stretta
labioschisi mediana
glossoptosi
anomalia della cavità orale
anomalia dei denti
periodontite severa
anomalia della gengiva
Fibromatosi gengivale
microglossia
anomalia dell'uvula
anomalia del palato
palatoschisi
palatoschisi dura submucosa
anomalia del labbro superiore
anomalia del labbro inferiore
vermiglio del labbro inferiore ingrossato
lingua lobulata
anomalia di movimento della lingua
difficoltà nei movimenti della lingua
palatoschisi molle
ampie creste alveolari
labbro superiore breve
palato ristretto
anomalia di frenuli orali
frenulo orale accessorio
ugola bifida
Ugola
bocca aperta
fossa del labbro inferiore
anomalia della ghiandola parotide
assenza del dotto di Stensen
noduli linguali
frenulo corto della lingua
sequenza di Pierre Robin
Sindrome di pierre robin
schisi orale
Cheiloschisi
schisi labbro superiore
Cheiloschisi
contratte labbra
glossite
bocca triangolare
trisma
crescita eccessiva delle gengive
teleangiectasia  del labbro
vermiglio del labbro superiore spessore
ampia cresta alveolare secondaria
xerostomia
palato alto
labbro superiore sottile
insufficienza velofaringea
lingua solcata
ipercheratosi gengivale
anomalia della sensazione del gusto
diminuita sensazione del gusto
sanguinamento gengivale
teleangiectasia della lingua
teleangiectasia ereditaria della cavità orale
gengivite
vermiglio estroflesso del labbro inferiore
bordo vermiglio sottile
anomalia della testa
anomalia delle fontanelle e delle suture craniche
anomalia della fontanella anteriore
piccola fontanella anteriore
idrocefalo
grandi fontanelle
anomalia delle dimensioni del cranio
bozze parietali
trigonocefalia
brachiturricefalia
anormalità dei seni
sinusite
brachicefalia
calvaria densa
microcefalia
microcefalia progressiva
sinusite acuta
macrocefalia
ampia fontanella anteriore
turricefalia
ossicefalia
anomalia del mastoide
mastoidite
asimmetria cranica
dolicocefalia
occipite prominente
ritardo nella chiusura della sutura cranica
anomalia del viso
appiattimento malare
smorfie facciali
viso piccolo
viso stretto
viso lungo
anomalia della mandibola
retrognazia
lineamenti grossolani
edema facciale
faccia larga
anomalia della regione ocularie
epicanto
aumento di tessuto adiposo facciale
anomalia del philtrum
ampio philtrum
anomalia della fronte
anomalia del tessuto adiposo facciale
perdita di tessuto adiposo facciale
guance carnose
attaccatura anteriore dei capelli bassa
facies tipo bambola
ipotonia facciale
facies come mascherina
viso ovale
anomalia della muscolatura facciale
prognatia mandibolare
Prognatismo
anomalia del mento
mento appuntito
microretrognazia
anomalia della porzione centrale della faccia
faccia rotondda
anomalia della regione orbitale
ipertelorismo
miochimia facciale
philtrum liscio
facies come uccello
viso quadrato
philtrum corto
asimmetria facciale
viso triangolare
anomalia della mascella superiore
ipoplasia della mascella superiore
emangioma facciale
mento piccolo
creste sopraorbitali prominenti
fronte ampia
espressione facciale ottusa
facies pugilistico
fronte sfuggente
fronte stretta
philtrum lungo
comparsa di acufeni
micrognatia
fronte alta
picco della vedova
fronte piccola
anomalia dell'orecchio esterno
anomala posizione delle orecchie
orecchie ruotate posteriormente
anomalia dell'orecchio interno
tinnito
tinnito pulsante
otosclerosi
anomalia del lobo dell'orecchio
anomalia dell'udito
indebolimento dell'udito
anomalia del naso
orecchie basse ruotate posteriormente
orecchie basse
anomalia dell'orecchio medio
otite media acuta
anomalia del canale uditivo
anomalia della coclea
partizione incompleta della coclea di tipo II
anomalia della pinna
orecchio concavo
anchilosi della staffa
anomalia della regione periauricolare
modifica preauricular della pelle
lobo dell'orecchio piccolo
lobo dell'orecchio assente
otite media
otite media cronica
Otite media
eliche ispessite
orecchio pendente
antielica prominente
elica ripiegata
sordità neurosensoriale prelinguale
macrotia
stenosi del canale uditivo esterno
otiti ricorrenti
indebolimento dell'udito conduttivo
sordità neurosensoriale
ipoacusia neurosensoriale progressiva
indebolimento dell'udito misto
orecchie prominenti
atresia del canale uditivo esterno
naso bulboso
anomalia delle coane
naso snello
cresta nasale stretta
anomalia del setto nasale
setto nasale breve
epistassi
anomalia del ponte nasale
ponte nasale prominente
anomalia delle ali
ipoplasia delle ali
ponte nasale largo
anomalia della mucosa nasale
teleangiectasia mucosa nasale
anomalia della punta nasale
punta nasale depressa
cresta nasale convessa
naso largo
ponte nasale stretto
naso a forma di pera
naso prominente
punta del naso triangolare
stenosi delle coane
atresia delle coane
narici ampie
punta del naso larga
punta del naso bifida
naso piatto
anosmia
naso stretto
narici rovesciate
anomalia del collo
collo reticolato
limitata gamma di movimenti del collo
debolezza muscolare del collo
aumento del tessuto adiposo intorno al collo
collo breve
angiodisplasia gastrointestinale
collo lungo
torcicollo spasmodico
piega nucale ispessita
collo ampio
igroma cistico
anomalia dell'occhio
anomalia della retina
Retina
coloboma retinico
anomalia della cornea
microcornea
astigmatismo
astigmatismo ipermetropico
megalocornea
strabismo
Esotropia
strabismo congenito
retinopatia
occhi profondamente incavati
Enoftalmo
cheratite
anomalia della palpebra
anomalia della fovea
rime palpebrali inclinate
erosioni corneale ricorrenti
anomalia del movimento dell'occhio
ritrazione del globo oculare e deviazione dell'abduzione
blefarite
anomalia delle ciglia
glaucoma
anomalia della congiuntiva
tortuosità dei vasi congiuntivavali
anomalia della visione
minorazione visiva
Ipovisione
telecanto
ptosi
congiuntivavite
retinite pigmentosa
Retinite pigmentosa
paralisi verticale sopranucleare dello sguardo
Sindrome di parinaud
elettroretinogramma anormale
movimenti ocularii saccadici rallentati
anomalia della lente
Cristallino
cataratta
cataratta congenita
proptosi
alacrimia
cataratta subcapsulare
teleangectasia congiuntivava
anomalia dell'iride
aniridia
ciglia lunghe
anoftalmia
perdita visiva progressiva
cristalli corneali
Cornea
anomalia corioretinica
atrofia corioretinica
anomalia del sopracciglio
sopracciglia rade
epicanto inverso
pseudopapilledema
anomalia della rifrazione
ipermetropia
distacco della retina
adduzione ocularie alterata
pallore del disco ottico
oftalmoplegia esterna
miopia
lesioni retiniche
degenerazione tapetoretinico
distrofia dei coni-bastoncelli
Nome:movimenti oculari non coniugati
elettroretinogramma  abolito
anomalia della visione dei colori
Daltonismo
tritanomalia
anomalia dell'uvea
uveite
leucocoria
distrofia retinica
buftalmo
anomalia di Rieger
cicatrizzazione corneale
ciglia assenti
cheratocono
atresia del dotto lacrimale
esotropia
coloboma corioretinico
microftalmo
anomalia dei movimenti ocularii saccadici
saccadi ipometriche
perdita visiva
Ipovisione
emorragia retinica
sopracciglia spesse
scotoma
scotoma centrocecale
esotropia
ostruzione del dotto nasolacrimale
retinite pigmentosa
blefarofimosi
fessura palpebrale inclinata verso l'alto
erosioni epiteliali corneali punctuate
cheratopatia a bande
basse orbite
anomalia del nervo ottico
coloboma del nervo ottico
coloboma
oftalmoplegia esterna progressiva
anomalia della sclera
sclere blu
anomalia della camera anteriore
camera anteriore superficiale
oftalmoparesi
anomalia dell'orecchio
anomalia dell'attaccatura dei capelli frontale
anomalia della faringe
ipotelorismo
oftalmoplegia
scotoma centrale
paralisi di sguardo Sovranucleare
anomalia della regione periorbitale
periorbital rughe
degenerazione maculare
ipoplasia del nervo ottico
anomalia della coroide
coloboma dell'iride
Coloboma
fotofobia
anomalia del sistema nasolacrimale
anomalia della pupilla
miosi
anomalie del riflesso di inseguimento
cecità nell'infanzia o nella primissima infanzia
alterata convergenza
dacrocistite
entropion
visione offuscata
oftalmoplegia sopranucleare
schisi della palpebra
embriotoxon posteriore
pienezza periorbitale
anomalia delle arterie retiniche
tortuosità delle arterie retiniche
anomalia di lacrimazione
diminuita lacrimazione
ridotta abduzione ocularie
iride blu
Colore degli occhi
Blue eye
coloboma palpebrale superiore
fenditura palpebrale lunga
nistagmo
nistagmo evocato da sguardo fisso
saccadi dismetriche
rosso-verde discromatopsia
blefarospasmo
ambliopia
sclerocornea
atrofia ottica
anomalia dei potenziali evocati da visione
ridotta ampiezza dei potenziali evocati da pattern visivi
diplopia
Double vision
coloboma palpebrale inferiore
ciglia rade
diminuita ampiezza dell'elettroretinogramma
degenerazione vitreoretinica
Ectropion
aprassia oculomotoria
aprassia palpebrale
anomalia di Peters
lipemia retinale
fenditura palpebrale con restringimento all'adduzione
emeralopia
sinofria
nistagmo orizzontale
ftisi bulbare
ipodonzia
denti cariati
Carie dentaria
Carie
anodonzia
macrodonzia dell'incisivo centrale mascellare permanente
anomalia dell'incisivo
oligodonzia
affollamento dentale
taurodonzia
eruzione ritardata dei denti primari
anomalia dello smalto dentale
smalto grigiastro
ritardata eruzione dei denti
ipoplasia dei denti
denti ampiamente spaziati
malocclusione dentale
agenesia dell'incisivo laterale mascellare
microdonzia
disallineamento dei denti
denti di Shell
dente di Natal
ritardata eruzione dei denti permanenti
denti conici
diastema
radiotrasparenza periapicale
dentinogenesi imperfetta
parodontite
Malattia parodontale
amelogenesi imperfetta
mancata eruzione denti
anomalia del sistema nervoso
anomalie psichiatrico
comportamentali
Disturbo mentale
psicosi
iperoralità
irrequietezza
labilità emotiva
Disturbo borderline di personalità
agitazione
depressione
Disturbo depressivo
autismo
comportamento aggressivo
comportamento inadeguato
sbalzi d'umore
mancanza di gioco spontaneo
disturbo ossessivo-compulsivo
Disturbo ossessivo-compulsivo
comportamento restrittivo
episodi psicotici
demenza
demenza del lobo frontale
alterata capacità di costruire relazioni tra pari
disturbo dello spettro autistico
Disturbo pervasivo dello sviluppo
rigida conformità alla routine o a riti
comportamento stereotipato
disinibizione
alterata interazioni sociali
breve durata dell'attenzione
irritabilità
allucinazioni
ansia
ansia
apatia
automutilazione
segni di rilascio frontale
bassa tolleranza della frustrazione
mancanza di motivazione
deliri
risate inappropriate
scoppi di risa parossistiche
ritardo dello sviluppo del linguaggio
cambiamenti di personalità
iperattività
autismo con alta capacità cognitive
agorafobia
mancanza di comprensione
alterato uso di comportamenti non verbali
anomalia del sistema nervoso periferico
ridotta velocità di conduzione del nervo
neuropatia sensoriale
degenerazione assonale periferica
difetto della parete toracica
anomalia dello sterno
pectus excavatum
pectus carinatum
anomalia del seno
ginecomastia
anomalia delle costole
costole corte
petto ristretto
anomalia del diaframma
ernia diaframmatica congenita
Ernia diaframmatica
anomalia del timo
ipoplasia del timo
anomalia della scapola
amenorrea primaria
nefrolitiasi
infertilità
ematuria
nefrolitiasi da acido urico
glomerulonefrite membrano-proliferativa
nefropatia da IgA
Glomerulonefrite a depositi mesangiali di iga
anomalia dell'uretra
ostruzione uretrale
oligospermia
rene grasso
displasia renale cistica diffusa non sindromica
impotenza
cisti corticali renali
nefrolitiasi da xantina
enuresi
ipospadia ghiandolare
ipospadia peno-scrotale
atresia delle vie urinarie
anomalie dei genitali esterni
anomalie dei genitali interni
utero bicornato
ipogonadismo ipergonadotropo
anomalia del metabolismo del ciclo di Krebs
scarso contatto ocularie
anomalia del sistema endocrino
diabete mellito
anomalia della tiroide
ipotiroidismo
ipertensione
pubertà ritardata
deficit di ormone della crescita
ipoglicemia iperinsulinemica
pubertà precoce
anomalia della ghiandola paratiroidea
ipoparatiroidismo
ipopituitarismo anteriore
diabete mellito insulino-resistente
Diabete mellito di tipo 2
ipotiroidismo primario
intolleranza al glucosio
anomalia delle ghiandole surrenali
ipoplasia surrenale
ipertiroidismo
eccesso di gonadotropinaa
nanismo ipofisario
sindrome adrenogenitale
sistema renina-angiotensina iperattivo
iperinsulinemia
iperparatiroidismo
eccesso di ormone della crescita
insufficienza surrenalica
anomalia del sistema renina-angiotensina
aumentato livello di renina circolante
anomalia corticosurrenale
ipotiroidismo congenito
pseudoipoparatiroidismo
gozzo
adenoma della tiroide
insulino-resistenza
diabete mellito neonatale insulino-dipendente
irregolarità mestruali
iperaldosteronismo
ipoplasia delle paratiroidi
diabete insipido centrale
anomalia dell'asse ipotalamo-ipofisi
gozzo multinodulare eutiroideo
iperparatiroidismo secondario
diminuita fertilità nelle femmine
amenorrea secondaria
eccesso di prolattina
panipopituitarismo
tiroidite di Hashimoto
diabete insipido
ipertensione episodica
oligomenorrea
diabete mellito alla pubertà insulino-resistente
11 paia di costole
sterno corto
scapole ipoplastiche
sottili costole
sterno prominente
costole larghe
gabbia toracica deformata
costole a coppa
costole orizzontali
anomalia delle clavicole
lunghe clavicole
costole cervicali
costole bifide
rigonfiamenti della giunzione costocondrali
brevi clavicole
clavicole adunche
esostosi della costola
rosario rachitico
costole ispessite
fusione della costola
gabbia toracica larga
progressiva acroosteolisi clavicolare
sporgenza anteriore delle coste
giunzioni costocondrali a coppa larga
fossa glenoide piatta
anomalia di Sprengel
Deformità di sprengel
fusione di costola posteriore
petto a scudo
pectus excavatum dello sterno inferiore
clavicole larghe
superior pectus carinatum
esostosi scapolare
anomalia delle giunzioni costocondrali
allargamento delle giunzioni costocondrali
costole assenti
sporgenza posteriore delle coste
costole a rosario
anomalia del sistema scheletrico
anomalia della colonna vertebrale
platispondilia
anomalia della maturazione scheletrica
anormalità del cranio
marcata solcatura dei seni trasversi
diradamento ed rigonfiamento delle ossa della fossa posteriore
anomalia della fossa cranica posteriore
ciste fossa posteriore al quarto ventricolo
condrocalcinosi
corteccia ispessita delle ossa lunghe
osteopenia
osteoporosi
morfologia anormale diafisi
breve diafisi
disostosi multipla
anomalia della metafisi
ilia ipoplastico
osso lungo a forma di manubrio
anomalia della pelle
ittero
iperpigmentazione della pelle
singola piega palmare trasversa
acanthosis nigricans
macchia cafe-au-lait
pelle secca
fossetta sacra
cianosi
ipercheratosi
pelle sottile
eczema
Eczema
cutis marmorata
Livedo reticolare
ipoidrosi
petecchie
displasia ectodermica
edema
Edema
Idrope
anidrosi
anomalia della ghiandola di sudore
ipercheratosi palmoplantare
cutis laxa
pelle della iperestensibilità
diaforesi
Sudorazione
dermatite Eczematoide
pelle morbida
suscettibilità ai lividi
purpura
pallore
cheratoderma palmoplantare
cicatrizzazione atipica della pelle
eruzione cutanea
Esantema
prurito
xantomatosi
fotosensibilità cutanea
Fotosensibilità
pseudotumori molluscoidi
nevo pigmentato
emangioma capillare facciale
lentiggini ascellari
ipertricosi
pioderma
anomalia della pigmentazione della pelle
anomalia del tessuto grasso sottocutaneo
grasso sottocutaneo diminuito
lentiggini multiple
linfedema
manifestazioni dermatologiche di disordini sistemici
ipotricosi
irsutismo
accumulo di melanosomi nei melanociti
telangiectasia
ipopigmentazione della pelle
diaforesi
lipomi multipli
Lipoma
xantomi eruttivi
angiocheratoma
vene superficiali prominenti
pallore anemico
anomalie dei dermatoglifi palmare
eritrodermia
albinismo
fossetta della pelle sopra l'apice di angolazione delle ossa lunghe
orticaria
ulcere penetranti del piede
pelle morbida e pastosa
emangioma
poichilodermia
pelle Fragile
lipoma sottocutaneo
assenti le pieghe interfalangee distale
sciaquata facciale dopo assunzione di alcol
macule ipermelanotiche
paracheratosi
necrosi Warfarin-indotta della pelle
xantomi ateroeruttivi
multiple pterygia
eritema facciale
alta triradio assiale
vene prominenti del cuoio capelluto
vitiligine
ittero intermittente
dermatite atopica
emangioma cavernoso
assenti le pieghe cutanee dorsali sopra le articolazioni colpite
pletora
dermatite seborroica
nevo flammeus
macchie cutanee ipopigmentate
numerosi nevi
erisipela
milia
aplasia congenita della cute
poveri la guarigione delle ferite
pterigio
pterygia ascellare
acne
nevi atipici
acrocianosi
striae distensae
neurofibromi
Neurofibromatosi
iperidrosi episodica
screziato pigmentazione
diffusum di corporis di angiokeratoma
addensato pelle
cicatrici carta da sigarette
nevi atipici non sole esposte zone
cicatrici atrofiche
emangioma glabellare
anomalia del tratto biliare
colelitiasi
colecistite
Ectopia lentis
arco corneale
papilledema
glaucoma congenito
macchie di Brushfield
atrofia dell'iride
grandi occhi
assente lacrimali
displasia del nervo ottico
iridociclite
retinopatia ipertensiva
cheratocongiuntivavite
cheratocongiuntivavite secca
Xeroftalmia
anomalia del fondo
atrofia del fondo
eterocromia rubeosis
irite
strie angioidi della retina
anomalia della macula
ipoplasia macula
atrofia retinica
iperpigmentazione periorbitale
albinismo ocularie
atrofia ottica di Leber
xanthelasma
cataratta polare posteriore
coloboma maculare
improvvisa perdita visiva centrale
cataratta giovanile
keratoglobus
anomalia di dimensione corneale
difetto del campo visivo
emianopic, offuscamento della visione
criptoftalmo
trichiasi
difetto del campo visivo centrale grande
distrofia corneale
sublussazione del cristallino
ristretto campo visivo
cataratta polare anteriore
distrofia corioretinica
tortuosità arteriolare retinica
alternando esotropia
neuropatia ottica
coroideremia
dermoide epibulbare
grave deficit visivo
lenticonus
cisti orbitali
degenerazione retinica pigmentaria
essudato retinico
distrofia corneale reticolare
alterata orizzontale liscio inseguimento
inseguimento liscio saccadica
vagina settato
anomalia della mano
Mano
sindrome brachidattilia
Brachidattilia
sindattilia
polidattilia
polidattilia postassiale
anomalia delle ossa metacarpali
aracnodattilia
anomalia del dito
palmo ampio
ectrodattilia
anomalia del pollice
mani grandi
polidattilia preassiale
artiglio ulna
oligodattilia
pollici addotti pollice
barretta conico
Sindrome di marfan
iperestensibilità delle articolazioni dito
stringendo a mano
anomalia delle ossa carpali
deviazione ulnare della mano o delle dita della mano
anomalie della placenta e del cordone ombelicale
singola arteria ombelicale
breve cordone ombelicale
anomalia di sviluppo prenatale o nascita
falange accessoria del pollice
sinfalangismo distale
anomalia delle punte delle dita
pastiglie di spicco polpastrello
camptodattilia
ritardata ossificazione delle ossa del carpo
tendenza a dare colpi
Dita ippocratiche
autoamputation
contratture delle articolazioni interfalangee
pollici spatolati
metacarpi prossimali, dal secondo al quinto, appuntiti
gonfiore al polso
ulcerazione acrale e osteomielite che porta ad autoamputazione delle dita
anomalia dell'eminenza tenare
vasto metacarpo
anomalia delle unghie
letto ungueale teleangiectasia
sindattilia dito 2-3
pollice autostoppista
dito snello
contrattura di flessione del polso
fusione capitate hamate
eminenza tenare piccola
breve delle ossa tubulari
disabilità intellettiva
Stupidità
convulsioni
Epilessia
atassia
ipotonia muscolare
letargia
disabilità intellettuale, lieve
spasticità
paraplegia spastica
coma
disartria
sonnolenza
ritardo dello sviluppo globale
diplegia spastica
iporeflessia
coreoatetosi
deterioramento mentale
Demenza
emiparesi
ritardo del motore
Disprassia
polineuropatia
atrofia cerebellare
anomalia del corpo calloso
agenesia del corpo calloso
Agenesia del corpo calloso
ipertonia
Tonicità
ipotensione ortostatica
sincope
tetania
paralisi bulbare
areflessia
tetraparesi spastica
meningite
dispersione di andatura
confusione
Disorientamento
generalizzata ipotonia
anormalità dei nervi cranici
compressione del nervo cranico
ictus
encefalopatia
parkinsonismo
polineuropatia cronica neurosensoriale
pachigiria
distonia di torsione
Distonia
malformazione di Dandy-Walker
linguetta fascicolazioni
dismetria
anormalità neurofisiologiche
potenziali evocati somatosensoriali gigante
riduzione dei riflessi tendinei
anomalia del cervelletto
ipotonia neonatale
ipoplasia del verme cerebellare
ipoplasia pontocerebellare
cervello molto piccolo
debolezza muscolare
Astenia
coma ipoglicemico
elettroencefalogramma con complessi irregolari di picchi ed onda generalizzate
fotomioclonica convulsioni
specifiche disabilità di apprendimento
assente setto pellucido
distonia
idrocefalia di comunicazione
sinkinesia bimanuale
mioclonie
tremore
agenesia parziale del corpo calloso
Agenesia del corpo calloso
lissencefalia
potenziamento del riflesso C
agenesia del lobo olfattivo
emorragia cerebrale
kernicterus
dialogo assante
zione psicotici
iperreflessia
riflessi vivaci
diplegia facciale
slurred discorso
picchi premioclonus Jerk-bloccato
megalencefalia
plagiocefalia
oloprosencefalia
nistagmo indotta testa annuendo
difetto del cranio
craniosinostosi
morfologia anomala congiunta
Artropatia
artrite
artrite reumatoide
contrattura della flessione
Contrattura
dislocazione dell'articolazione
Dislocazione
lussazione congenita dell'anca
limitazione della mobilità articolare
estensione del gomito limitata
malattia degenerativa delle articolazioni
lassità legamentosa
ipermobilità dell'articolazione
anomalia dell'articolazione dell'anca
displasia dell'anca
gonfiore dell'articolazione
rigidità dell'articolazione
lassità dell'articolazione
anormalità del fegato
Epatopatia
cirrosi
fibrosi epatica
colestasi
steatosi epatica
Steatosi
insufficienza epatica
epatico ascessi a causa dell'immunodeficienza
disgenesia biliare intraepatica
carcinoma epatocellulare
steatosi epatica macrovescicolare
Steatosi
necrosi epatocellulare
fibrosi periportale
colestasi intraepatica
cisti epatiche
proliferazione dei dotti biliari
ipertensione portale
diminuita funzione epatica
Insufficienza epatica
epatite enterovirale
cirrosi micronodulare
steatosi epatica microvescicolare
Steatosi
eredità legata all'X
Caratteri legati al sesso
eredità recessiva legata al X
anomalia della muscolatura della mano
ereditarietà dominante legata al X
eterogenea
Eterogeneità genetica
eredità multifattoriale
ereditarietà mitocondriale
Mitocondrio
mutazione somatica
anomalia della muscolatura del polpaccio
epatosplenomegalia
anomalia della muscolatura del cingolo scapolare
anomalia della muscolatura del piede
anomalia della muscolatura degli arti inferiori
anomalia dell'addome
sinostosi che coinvolge le ossa metatarsali
anomalia della muscolatura della coscia
mosaicismo somatico
anomalia della muscolatura glutea
mutazione autosomica dominante del somatocita
anomalia della muscolatura dell'anca-arto
anomalia della muscolatura degli arti superiori
duplicazione delle ossa metatarsali
eredità legata all'Y
sindrome attigua del gene dominante Autosomal
anomalia del braccio superiore
anomalia della muscolatura del braccio superiore
sindattilia delle dita 1-3
aplasia
ipoplasia della muscolatura
aplasia
ipoplasia della muscolatura della spalla
amiotrofia della muscolatura della spalla
sindrome attigua del gene
aplasia
ipoplasia della muscolatura degli arti superiori
aplasia
ipoplasia la muscolatura del braccio superiore
anomalia della muscolatura della pelvi
studio autosomica dominante
aplasia
ipoplasia della muscolatura della pelvi
predisposizione familiare
osteolisi metatarsali
scapole sclerotiche
uomo limitata autosomica dominante
ritardata chiusura della fontanella anteriore
elevazione compensatoria mento
freckling
noduli sottocutanei
colpi agli occhi
ptosi bilaterale
distacco del vitreo
fibrosi congenita dei muscoli extraocularii
anomalia di Axenfeld
piega retinica falciforme
osteolisi carpo
ipoplasia delle ossa carpali
dito largo
sesto osso del metacarpo
osteolisi del metacarpo
anomalia della crescita
difficoltà nel crescere sani
ritardo della crescita
ritardo di crescita intrauterino
obesità
piccolo per età gestazionale
statura sproporzionatamente alta
grande per età gestazionale
morte nell'infanzia
grave ritardo di crescita
emiipertrophy
ritardo della crescita postnatale lieve
omissione di prosperare nell'infanzia
compilazione snello
ernia ombelicale
addome protuberante
onfalocele
diastasi recti
ascite
gastroschisi
ombelico prominente
ano posizionato anteriormente
anomalia della gabbia toracica
crescita eccessiva
anomalia dell'ileo
anomalia dell'ombelico
torace a forma di botte
Torace a botte
asimmetria del torace
anomalia di movimento prenatale
diminuito movimento fetale
anomalia del liquido amniotico
polidramnios
oligoidramnios
poliuria fetale
incisivi centrali mascellary distanziati
denti incastrati multiplo
macrodontia
anomalia del tegumento
cambiamenti di umore
ipercortisolismo
ipercorticolismo primaria
malattia corticosurrenale micronodulare pigmentata
infezioni cutanee ricorrenti
pelle ridondante
nistagmo rotatorio
Nistagmo
fistola vescicovaginale
insufficienza ovarica primaria
torace a campana
agenesia selettiva del dente
microdonzia dell'incisivo laterale mascellare
anomalia del capello
alopecia
anomalia del chiodo
chiodo concavo
Coilonichia
anomalia della laringe
laringomalacia
stenosi laringea
paresi delle corde vocali
paralisi delle corde vocali
paralisi delle corde vocali
stenosi subglottica
anomalia della voce
voce rauca
Disfonia
voce nasale
debole piangono
voce rauca
grido rauco
disfonia
alta spiovente voce
debole voce
nascita prematura
presentazione podalica
anomalia del sistema cardiovascolare
anomalia del cuore
difetto del setto ventricolare
difetto del setto atriale
anomalia della valvola mitrale
prolasso della valvola mitrale
insufficienza cardiaca congestizia
tetralogia di Fallot
anomalia del miocardio
cardiomiopatia
cardiomiopatia ipertrofica
cardiomegalia
anomalia della valvola polmonare
stenosi polmonare
ductus arterioso persistente
Dotto arterioso di botallo
cardiomiopatia congestiva
morte cardiaca improvvisa
anomalia della valvola aortica
valvola aortica bicuspide
cor pulmonale
tachicardia
stenosi della valvola aortica
destrocardia
insufficienza mitralica
anomalia delle valvole cardiache
Valvulopatia
forame ovale pervio
intervallo QT prolungato
infarto miocardico
regurgitazione aortica
tronco arterioso
bradicardia
fibrillazione ventricolare
torsione di punta
ipertrofia ventricolare di destra
trasposizione delle grandi arterie
ipertrofia settale asimmetrica
anomalia dei setti cardiaci
tachicardia
difetto completo del canale atrioventricolare
disturbi del ritmo connessi con feocromocitoma
palpitazioni
malattia coronarica
blocco atrioventricolare
anomalia dell'aorta
coartazione dell'aorta
angina pectoris
stenosi aortica subvalvolare
ectopia cordis
difetto del setto atriale ostium secundum
fibrosi miocardica
perdita della voce
bradicardia sinusale
muscolare stenosi aortica Subvalvolare
aritmia atriale primaria
shunt cardiaco
shunt da destra a sinistra
arresto cardiaco
situs inversus totalis
mesotelioma maligno
anomalia del pericardio
esordio precoce della pubertà
effusione pericardica
mesotelioma peritoneale
morte improvvisa
mesotelioma pleurico
necrosi miocardica
mesotelioma testicolare
pericardite
mesotelioma pericardico
anomalia della valvola tricuspide
neoplasia del sistema nervoso periferico
neoplasia del sistema nervoso centrale
prolasso della valvola tricuspide
meningioma intracranico
ostruzione ventricolare di destra
neurinoma
fibroelastosi endocardica
neurinoma Scleral
anomalia del ventricolo destro
meningioma spinale
insufficienza ventricolare destra
neoplasma del seno
blocco atrioventricolare di terzo grado
Blocco atrioventricolare di iii grado
neoplasma dell'occhio
difetti troncoconali
orecchio Stahl
anomalia del ventricolo sinistro
membrana epiretinica
ipertrofia ventricolare di sinistra
cataratta capsulare
anomalia del ventricolo cardiaco
anomalia del mesentere
ipertrofia ventricolare
cataratta corticale
cataratta nucleare
sindrome di Wolff-Parkinson-White
paralisi cerebrale
calcificazione dell'arteria coronaria
cataratta capsulare posteriore
stenosi mitralica
flapping mano ricorrente
ventricolo destro a doppia uscita
anomalia di movimento
Disordini del movimento
eccessiva amichevolezza
disposizione notevolmente allegra
insufficienza cardiaca congestizia di elevata potenza
pancreatite ricorrente
cardiomiopatia restrittiva
malformazione arterovenosa
dilatazione aortica
tiroide linguale
tiroide ectopica
aumentata prevalenza di malattia valvolare
neoplasia della ghiandola tiroide
colpo tromboembolico
tessuto tiroideo ectopico accessorio
tic
sordità progressiva
tic fonico
tic motorio
anomalia del pancreas
anomalia del cuoio capelluto
pancreatite
pseudo-fratture
Osteomalacia
pancreas anulare
corteccia ispessita delle ossa
pancreatite acuta
crescita lenta del cuoio capelluto
ampio terzo dito
cisti pancreatiche
ampio secondo dito
insufficienza pancreatica
ampio quinto dito
anomalia del rinofaringe
ampio
epifisi a staffa del secondo dito
fimosi
epifisi assente del secondo dito
ostruzione nasale
epifisi allargata del secondo dito
anomalia della milza
epifisi a cono del secondo dito
splenomegalia
irregolarità delle epifisi del secondo dito
frammentazione delle epifisi del secondo dito
asplenia
pseudoepifisi del secondo dito
milza accessorio
epifisi ad avorio del secondo dito
polisplenia
punteggiatura delle epifisi del secondo dito
piccole epifisi del secondo dito
ventricolo unico
epifisi assente del terzo dito
disfunzione vestibolare
epifisi triangolare del secondo dito
epifisi a cono del terzo dito
epifisi a staffa del terzo dito
frammentazione delle epifisi del terzo dito
epifisi allargata del terzo dito
ipofunzione vestibolare
epifisi ad avorio del terzo dito
ipoacusia neurosensoriale ad alta frequenza
epifisi irregolare del terzo dito
piccole epifisi del terzo dito
pseudoepifisi del terzo dito
anomalia del piede
Piede
epifisi triangolare del terzo dito
pes cavus
punteggiatura delle epifisi del terzo dito
talipes equinovarus
epifisi a staffa del quarto dito
pes planus
epifisi assente del quarto dito
epifisi allargata del quarto dito
martello
epifisi a cono del quarto dito
irregolarità delle epifisi del quarto dito
frammentazione delle epifisi del quarto dito
pseudoepifisi del quarto dito
piede largo
epifisi ad avorio del quarto dito
sindattilia delle dita dei piedi
punteggiatura delle epifisi del quarto dito
contrattura del tendine d'Achille
epifisi piccole del quarto dito
talipes equinovalgus
epifisi assente del quinto dito
piede corto
epifisi triangolare del quarto dito
epifisi a cono del quinto dito
osteovalgus tarsale
epifisi a staffa del quinto dito
talipes equinovarus bilaterale
frammentazione delle epifisi del quinto dito
epifisi allargata del quinto dito
epifisi ad avorio del quinto dito
irregolarità delle epifisi del quinto dito
anomalia del dito del piede
piccole epifisi del quinto dito
pseudoepifisi del quinto dito
punta delle dita dei piedi bulbose
epifisi triangolare del quinto dito
ampio metatarso
punteggiatura delle epifisi del quinto dito
anomalia dell'epifisi della falange media del secondo dito
gonfiore della caviglia
anomalia dell'epifisi della falange distale del secondo dito
piede stretto
anomalia dell'epifisi delle falangi distali del terzo dito
parto anormale
anomalia dell'epifisi della falange prossimale del secondo dito
rottura prematura delle membrane
anomalia dell'epifisi della falange prossimale del terzo dito
idrope fetale
anomalia dell'epifisi della falange media del terzo dito
idrope fetale non immune
anomalia dell'epifisi della falange media del quarto dito
ascite fetale
anomalia dell'epifisi della falange distale del quarto dito
unghie piccole
anomalia dell'epifisi delle falangi distali del quinto dito
anomalia dell'epifisi della falange prossimale del quarto dito
anomalia dell'epifisi della falange prossimale del quinto dito
unghie iperconvesse
anomalia dell'epifisi della falange media del quinto dito
epifisi a staffa della falange distale del secondo dito
epifisi assente delle falangi distali del secondo dito
aplasia
ipoplasia delle unghie
epifisi allargata delle falangi distali del secondo dito
unghie corte
epifisi a cono della falange distale del secondo dito
ipoplasia delle unghie dei piedi
epifisi irregolare della falange distale del secondo dito
frammentazione dell'epifisi della falange distale del secondo dito
unghie dei piedi assenti
pseudoepifisi della falange distale del secondo dito
unghie con depressioni puntiformi
epifisi ad avorio delle falangi distali del secondo dito
ipoplasia delle unghie
punteggiatura dell'epifisi della falange distale del secondo dito
unghia spessa
Onicogrifosi
epifisi piccola delle falangi distali del secondo dito
onicolisi
epifisi assente della falange media del secondo dito
unghia zigrinata
epifisi triangolare della falange distale del secondo dito
unghie fragili
epifisi a cono della falange media del secondo dito
unghia separata
epifisi a staffa della falange media del secondo dito
unghie del piede distrofiche
frammentazione dell'epifisi della falange media del secondo dito
epifisi allargata della falange media del secondo dito
unghie delle mani iperconvesse
epifisi ad avorio della falange media del secondo dito
epifisi irregolare della falange media del secondo dito
unghie infossate
epifisi piccola della falange media del secondo dito
pseudoepifisi della falange media del secondo dito
unghia sottile
epifisi triangolare della falange media del secondo dito
unghia della mano assente
punteggiatura dell'epifisi della falange media del secondo dito
paronichia
epifisi a staffa della falange prossimale del secondo dito
epifisi assente della falange prossimale del secondo dito
leuconichia
epifisi allargata della falange prossimale del secondo dito
unghia larga
epifisi a cono della falange prossimale del secondo dito
alluce valgo
epifisi irregolare della falange prossimale del secondo dito
frammentazione dell'epifisi della falange prossimale del secondo dito
perdita di peso
pseudoepifisi della falange prossimale del secondo dito
epifisi ad avorio della falange prossimale del secondo dito
punteggiatura dell'epifisi della falange prossimale del secondo dito
atresia del tratto genitale
epifisi piccola della falange prossimale del secondo dito
anomalia del pelo pubico
polidattilia
epifisi triangolare della falange prossimale del secondo dito
polidattilia postassiale del piede
epifisi assente delle falangi distali del terzo dito
dita del piede corte
anomalia del pelo ascellare
anomalia delle ossa metatarsali
epifisi a cono della falange distale del terzo dito
piedi grandi
epifisi a staffa della falange distale del terzo dito
frammentazione dell'epifisi delle falangi distali del terzo dito
epifisi allargata delle falangi distali del terzo dito
camptodattilia
epifisi ad avorio delle falangi distali del terzo dito
punta larga
epifisi irregolare delle falangi distali del terzo dito
astragalo verticale
epifisi piccola delle falangi distali del terzo dito
ectrodattilia
pseudoepifisi della falange distale del terzo dito
metatarso addotto
epifisi a triangolo delle falangi distali del terzo dito
preassiale polidattilia del piede
punteggiatura dell'epifisi delle falangi distali del terzo dito
acrosteolisi
epifisi a staffa della falange media del terzo dito
epifisi assente della falange media del terzo dito
anomalia dell'alluce
epifisi allargata della falange media del terzo dito
dita sovrapposte
epifisi a cono della falange media del terzo dito
epifisi irregolare della falange media del terzo dito
alluce lungo
frammentazione dell'epifisi della falange media del terzo dito
deformità del calcaneovalgus
pseudoepifisi della falange media del terzo dito
oligodattilia
epifisi ad avorio della falange media del terzo dito
anomalia delle ossa tarsali
punteggiatura dell'epifisi della falange media del terzo dito
epifisi piccola della falange media del terzo dito
divario tipo sandalo
epifisi assente della falange prossimale del terzo dito
falange distale bifida dell'alluce
epifisi triangolare della falange media del terzo dito
gotta
Gotta
epifisi a cono della falange prossimale del terzo dito
epifisi a staffa della falange prossimale del terzo dito
frammentazione dell'epifisi della falange prossimale del terzo dito
falange distale breve dell'alluce
epifisi allargata della falange prossimale del terzo dito
epifisi ad avorio della falange prossimale del terzo dito
sinfalangismo distale
epifisi irregolare della falange prossimale del terzo dito
epifisi piccola della falange prossimale del terzo dito
pseudoepifisi della falange prossimale del terzo dito
ulcerazione acral e osteomielite che porta a autoamputation le dita
epifisi triangolare della falange prossimale del terzo dito
clinodattilia delle dita dei piedi
punteggiatura dell'epifisi della falange prossimale del terzo dito
clinodattilia del quinto dito del piede
epifisi assente della falange distale del quarto dito
frammentata delle epifisi
epifisi a cono della falange distale del quarto dito
epifisi a staffa della falange distale del quarto dito
autoamputazione
frammentazione dell'epifisi della falange distale del quarto dito
profonde pieghe plantari
epifisi allargata della falange distale del quarto dito
acroosteolisi delle falangi distali
epifisi ad avorio della falange distale del quarto dito
anomalia del sangue e dei tessuti che formano il sangue
epifisi irregolare della falange distale del quarto dito
anomalia dei trombociti
Tromboastenia di glanzmann
epifisi piccola della falange distale del quarto dito
trombocitopenia
pseudoepifisi della falange distale del quarto dito
anomalia dei neutrofili
epifisi triangolare della falange distale del quarto dito
neutropenia
punteggiatura dell'epifisi della falange distale del quarto dito
pancitopenia
epifisi a staffa della falange media del quarto dito
anomalia degli eritrociti
epifisi assente della falange media del quarto dito
anemia emolitica
epifisi allargata della falange media del quarto dito
anomalia di eosinofili
epifisi a cono della falange media del quarto dito
eosinofilia
epifisi irregolare della falange media del quarto dito
anomalia dei leucociti
frammentazione dell'epifisi della falange media del quarto dito
leucopenia
pseudoepifisi della falange media del quarto dito
talipes
epifisi ad avorio della falange media del quarto dito
talipes calcaneovalgus
punteggiatura dell'epifisi della falange media del quarto dito
secondo dito breve del piede
epifisi piccola della falange media del quarto dito
osteomielite o necrosi, distale, a causa della neuropatia sensitiva
epifisi assente della falange prossimale del quarto dito
epifisi triangolare della falange media del quarto dito
linfopenia
epifisi a cono della falange prossimale del quarto dito
anemia megaloblastica
epifisi a staffa della falange prossimale del quarto dito
anemia emolitica autoimmune
frammentazione dell'epifisi della falange prossimale del quarto dito
anemia da carenza di ferro
epifisi allargata della falange prossimale del quarto dito
sanguinamento anormale
Diatesi emorragica
epifisi ad avorio della falange prossimale del quarto dito
epifisi irregolare della falange prossimale del quarto dito
trombocitosi
epifisi piccola della falange prossimale del quarto dito
anemia normocromica
pseudoepifisi della falange prossimale del quarto dito
reticolocitopenia
epifisi triangolare della falange prossimale del quarto dito
anemia normocitica
punteggiatura dell'epifisi della falange prossimale del quarto dito
sangue rosso maggiore massa di cella
epifisi a staffa della falange distale del quinto dito
aumento dell'ematocrito
epifisi assente delle falangi distali del quinto dito
aumento dell'emoglobina
epifisi allargata delle falangi distali del quinto dito
policitemia
epifisi a cono della falange distale del quinto dito
piastrine giganti
epifisi irregolare della falange distale del quinto dito
anemia
frammentazione dell'epifisi delle falangi distali del quinto dito
neutropenia Autoimmune
pseudoepifisi della falange distale del quinto dito
trombocitopenia congenita
epifisi ad avorio delle falangi distali del quinto dito
punteggiatura dell'epifisi delle falangi distali del quinto dito
tromboembolia
epifisi piccola delle falangi distali del quinto dito
anemia ipoplastica
epifisi assente della falange media del quinto dito
leucemia
epifisi a triangolo delle falangi distali del quinto dito
epifisi a cono della falange media del quinto dito
anomalia di granulociti
epifisi a staffa della falange media del quinto dito
anomalia dei basofili
frammentazione dell'epifisi della falange media del quinto dito
granulocitopenia
epifisi allargata della falange media del quinto dito
epifisi ad avorio della falange media del quinto dito
anemia aplastica
epifisi irregolare della falange media del quinto dito
epifisi piccola della falange media del quinto dito
amiloidosi renale
pseudoepifisi della falange media del quinto dito
epifisi triangolare della falange media del quinto dito
insufficienza renale acuta
punteggiatura dell'epifisi della falange media del quinto dito
stenosi dell'arteria renale
epifisi a staffa della falange prossimale del quinto dito
epifisi assente della falange prossimale del quinto dito
linfociti vacuolati
epifisi allargata della falange prossimale del quinto dito
reticolocitosi
epifisi a cono della falange prossimale del quinto dito
anemia sideroblastica
epifisi irregolare della falange prossimale del quinto dito
frammentazione dell'epifisi della falange prossimale del quinto dito
pseudoepifisi della falange prossimale del quinto dito
acantocitosi
epifisi ad avorio della falange prossimale del quinto dito
anomalia della coagulazione
punteggiatura dell'epifisi della falange prossimale del quinto dito
ridotta attività del fattore XI
epifisi piccola della falange prossimale del quinto dito
anemia emolitica non sferocitica
sinostosi che coinvolge le ossa delle dita
anemia ipocromica
epifisi triangolare della falange prossimale del quinto dito
sinfalangismo prossimale
emorragia sottocutanea
sanguinamento persistente dopo trauma
anemia microcitica
sinostosi che coinvolge le ossa degli arti superiori
mucosa respiratoria ectopico
anemia emolitica microangiopatica
sinostosi delle articolazioni
leiomiosarcoma
anomalia del metabolismo
omeostasi
sarcoma
tumori Desmoid
acidosi
Fibrosarcoma
acidosi metabolica
singultus ricorrenti
Singhiozzo
ipoglicemia
osteoma
disidratazione
calcificazione dei muscoli
febbre
Febbre
Ipertermia
emiballismus
chetosi
Chetosi
i lipomi del sistema neryoso centrale
acidosi tubulare renale
calcificazione meningea
alcalosi
anomalia della cavità midollare delle ossa lunghe
alcalosi ipokaliemica
displasia diafisaria
alcalosi respiratoria
displasia metafisaria
intossicazione da ammoniaca episodica
stenosi della cavità midollare delle ossa lunghe
tolleranza al glucosio anormale
ectrodattilia
chetoacidosi diabetica
placche senili
febbre episodica
polidattilia postassiale
febbri non motivate
preassiale polidattilia
obesità del tronco
morfologia anormale tendine
mesoaxial-polidattilia
ipoglicemia non chetotica
sinfalangismo distale
polidipsia
sinostosi che coinvolge dita
alcalosi metabolica ipokaliemica
sinostosi del metacarpo
metatarso
cuore ipoplasico
sinfalangismo prossimale
palpitazioni
fossa del labbro
discriminazione di discorso anormale
sinostosi dei metacarpali
carpo
aplasia
ipoplasia delle ossa metatarsali
fossa labbro Paramedian
anomalia del cuoio capelluto
fossa del labbro superiore
anomalia mesangiale
discorso iponasal
diffusa glomerulopatia della sclerosi mesangiale
anomalia di patterning dorsoventral degli arti
neoplasia del colon
nefropatia tubulointerstiziale
seno Branchial
nefrite tubulointerstiziale
cerebellare atrofia diffusa
ipersplenismo
lacrimazione gustativa
anemia macrocitica
pozzi di pelle Periauricular
trombocitopenia autoimmune
pozzi di pelle
leucocitosi
colite ulcerosa
diminuito glicoproteina piastrinica IIb-IIIa
Tromboastenia di glanzmann
ridotta attività dell'antitrombina III
Deficit di antitrombina iii
Antitrombina
colite cronica
trombosi anormale
morbo di crohn
Malattia di crohn
ematopoiesi extramidollare
EMG: attività continua dell'unità motore a riposo
colite acuta
megaloblastica del midollo osseo
EMG: alterata trasmissione neuromuscolare
schistocitosi
EMG: scariche Miotonici
istiocitosi mare-blu
EMG: rallentare la conduzione del motore
ridotta espressione di superficie del linfocita di cD43
intolleranza alle proteine
anomalia dei potenziali evocati visivi pattern inversione
ipoglicemia ipochetotica
EMG: scariche miokymic
disidratazione ipertonica
anomalia delle centrali somatosensoriali potenziali evocati
iperammoniemia
anomalia della periferica somatosensoriale potenziali evocati
ipoglicemia ricorrente
fibra muscolare ipertrofia
sequenza dell'acinesia fetale
amiloidosi dei nervi periferici
atrofia della fibra muscolare
aplasia
ipoplasia delle dita
aciduria organica
aumento del tessuto connettivo endomisiale
chetoacidosi
perifascicular fibra muscolare atrofia
sindrome renale di Fanconi
corpi di inclusione di fibra muscolare
acidosi ipercloremica
fibre muscolari dolorosa
acidosi metabolica cronica
inclusioni tubolari fibra muscolare
gotta
Gotta
corpi di desmina
ipoglicemia neonatale
corpi di inclusione citoplasmatico fibra muscolare
forma facciale anormale
Dismorfismo
fibra muscolare tubuloreticular inclusioni
columella corta
anello di fibre
corpi di inclusione intranucleari fibra muscolare
profondo philtrum
ipoplasia dell'emisfero cerebellare
fronte larga
corpi ialini fibra muscolare
emorragia subdurale
emiatrofia corticale cerebrale
schisi facciale
aderenze ventricolare cerebrale
bozze frontali
emorragia epidurale
granulomatosi cerebrale
potter facies
germinoma cerebrale
mascella stretta
corpi di Lewy
anomalia morfologica del sistema nervoso centrale
cerebrali corpi di inclusione
anomalia degli organi addominali
corpi di inclusione Agyrophilic
vomito
corpi Hirano
diarrea
corpi ialini cerebrali
disfagia
corpi di Lafora
anomalia del nucleo dentate
nausea e vomito
fibre di Rosenthal
nausea
necrosi asettica giovanile
costipazione
aplasia del tratto piramidale
reflusso gastroesofageo
stenosi pilorica
sclerodermia
allergia del latte di mucca
atresia anale
ipersensibilità immunologica
malassorbimento
tarso-sinostosi
stenosi anale
sinostosi carpo-metacarpale
dolore addominale
diarrea cronica
labioschisi unilaterale
non-linea mediana labbro fenduto
anormalità dell'esofago
palato fenduto unilaterale
atresia esofagea
palatoschisi bilaterale
atto del succhiare insufficiente
labioschisi bilaterale
anomalia del retto
anomalia dell'os naviculare pedis
prolasso rettale
non-linea mediana schisi palatina
ernia iatale
tibial deviazione del quarto dito
infiammazione dell'intestino crasso
Malattie infiammatorie croniche intestinali
Fibular deviazione del quarto dito
evitamento della proteina
tibial deviazione della terzo dito
anoressia
Fibular deviazione della terzo dito
varici esofagee
Varici esofagee
tibial deviazione del secondo dito
diarrea intrattabile
Fibular deviazione del secondo dito
tibial deviazione del quinto dito
stenosi esofagea
Fibular deviazione del quinto dito
sindrome di Zollinger-Ellison
contratture dell'articolazione interfalangea prossimale del terzo dito
ipotermia
contratture dell'articolazione interfalangea prossimale del secondo dito
intolleranza al calore
contratture dell'articolazione interfalangea prossimale del quinto dito
ipertermia maligna
contratture dell'articolazione interfalangea prossimale del quarto dito
atrofia corticale renale
contratture dell'articolazione interfalangea distale del terzo dito
acidosi tubulare renale prossimale
contratture dell'articolazione interfalangea distale del secondo dito
macroorchidismo, post pubertà
contratture dell'articolazione interfalangea distale del quinto dito
contratture dell'articolazione interfalangea distale del quarto dito
contratture del giunto metatarsophalangeo del terzo dito
contratture del giunto metatarsophalangeo del secondo dito
creste sopraorbitali pesanti
contratture del giunto metatarsophalangeo del quinto dito
fossetta lineare curva sotto il labbro inferiore
contratture del giunto metatarsophalangeo del quarto dito
anomalia della glabella
glabella prominente
contratture delle articolazioni degli arti superiori
facies miopatica
aplasia delle falangi medie del quarto dito
atrofia cerebrale
aplasia delle falangi medie del terzo dito
anomalia del cervello
spasticità degli arti inferiori
aplasia delle falangi medie del quinto dito
anomalia morfologica dei tratti piramidali
falange breve del quarto dito
rigidità
falange breve del terzo dito
andatura spastica
aplasia
ipoplasia delle falangi distali del terzo dito
falange breve del quinto dito
atassia di andatura
Atassia
aplasia
ipoplasia delle falangi distali del quinto dito
bradicinesia
aplasia
ipoplasia della falange distale del quarto dito
disfagia neuromuscolare
aplasia
ipoplasia della falange media del quarto dito
convulsioni tonico-cloniche generalizzate
Crisi tonico-clonica
aplasia
ipoplasia della falange media del terzo dito
atassia degli arti
aplasia
ipoplasia della falange prossimale del terzo dito
anomalia della funzione motoria extrapiramidale
Sistema extrapiramidale
aplasia
ipoplasia della falange media del quinto dito
corea
aplasia
ipoplasia della falange prossimale del quinto dito
atassia cerebellare progressiva
aplasia
ipoplasia della falange prossimale del quarto dito
aumentato lipopigmento neuronale autofluorescente
aplasia della falange distale del quarto dito
disdiadococinesia
assente falange distale del terzo dito
emicrania
assente falange media del terzo dito
emicrania con aura
aplasia della falange distale del quinto dito
atassia del tronco
aplasia della falange media del quinto dito
ipoplasia del corpo calloso
aplasia della falange media del quarto dito
tremito di intenzione
aplasia della falange prossimale del quarto dito
assente falange prossimale del terzo dito
aplasia delle falangi delle dita
emicrania senza aura
aplasia della falange prossimale del quinto dito
encefalocele
falange breve distale del terzo dito
encefalocele occipitale
aplasia delle falangi prossimali delle dita
anomalia dell'apparato respiratorio
falange breve distale del quinto dito
anomalia del tratto respiratorio superiore
falange breve distale del quarto dito
anomalia del polmone
falange breve media del quarto dito
ipoplasia polmonare
Ipoplasia
falange breve media del terzo dito
polmonite
falange breve prossimale del terzo dito
affezione polmonare restrittiva
falange breve media del quinto dito
ipertensione polmonare
falange breve prossimale del quinto dito
perdita di funzione respiratoria
falange breve prossimale del quarto dito
dispnea
duplicazione della falange distale del quarto dito
duplicazione della falange distale del terzo dito
duplicazione della falange media del terzo dito
enfisema
Enfisema
Broncopneumopatia cronica ostruttiva
duplicazione della falange distale del quinto dito
distress respiratorio
duplicazione della falange media del quinto dito
asma
duplicazione della falange media del quarto dito
polmonite da aspirazione ricorrente
duplicazione della prima falange del quarto dito
lobatura polmonare anormale
duplicazione della falange prossimale del terzo dito
pleurite
duplicazione completa della falange distale del terzo dito
anomalia della pleura
duplicazione della prima falange della quinto dito
apnea
Apnea
duplicazione completa della falange distale del quinto dito
emottisi
duplicazione completa della falange distale del quarto dito
duplicazione completa della falange media del quarto dito
pneumotorace
duplicazione completa della falange media del terzo dito
pneumotorace spontaneo
duplicazione completa della falange prossimale del terzo dito
anomalia dei bronchi
Bronco
duplicazione completa della falange media del quinto dito
bronchiectasie
duplicazione completa della prima falange del quinto dito
insufficienza respiratoria restrittiva
duplicazione completa della prima falange del quarto dito
duplicazione parziale della falange distale del quarto dito
infiltrati polmonari
duplicazione parziale della falange distale del terzo dito
duplicazione parziale della falange media del terzo dito
duplicazione parziale della falange distale del quinto dito
duplicazione parziale della falange media del quinto dito
duplicazione parziale della falange media del quarto dito
anomalia dei ventricoli cerebrali
duplicazione parziale della falange prossimale del quarto dito
ventricolomegalia
duplicazione parziale della falange prossimale del terzo dito
atrofia corticale cerebrale
ampia falange media del terzo dito
convulsioni da assenza
duplicazione parziale della falange prossimale del quinto dito
ampia falange media del quinto dito
convulsioni mioclonici generalizzate
Mioclono
ampia falange media del quarto dito
falange ampia prossimale del quarto dito
falange ampia prossimale del terzo dito
polimicrogiria
falange ampia distale del terzo dito
anormalità del neurone motore superiore
falange ampia prossimale del quinto dito
falange ampia distale del quinto dito
falange ampia distale del quarto dito
falange centrale a forma di proiettile del quarto dito
atassia cerebellare intermittente
falange centrale a forma di proiettile del terzo dito
porencefalia
proiettile a forma di falange prossimale del terzo dito
stato epilettico
falange centrale a forma di proiettile del quinto dito
anomalia dei gangli basali
proiettile a forma di falange prossimale del quinto dito
calcificazione dei gangli basali
falange prossimale a forma di proiettile del quarto dito
andatura quot;Broad-basedquot;
falange distale a forma di proiettile del quarto dito
proiettile a forma di falange distale del terzo dito
emorragia subaracnoidea
curva falange media del terzo dito
arinencefalia
proiettile a forma di falange distale del quinto dito
ictus ischemico
curva falange media del quinto dito
squilibrio nell'andatura
curva falange media del quarto dito
falange curva prossimale del quarto dito
anormalità del midollo spinale
Mielopatia
falange curva prossimale del terzo dito
midollo ancorato
falange distale ricurva del terzo dito
demenza frontotemporale
falange curva prossimale del quinto dito
falange distale ricurva del quinto dito
falange distale ricurva del quarto dito
ipofosfatemia
difetti osteolitici della falange media del quarto dito
iperuricemia
difetti osteolitici della falange media del terzo dito
ipercalciuria
difetti osteolitici della falange prossimale del terzo dito
aumento livello di lattato nel siero
difetti osteolitici della falange media del quinto dito
iperproteinemia
difetti osteolitici della falange prossimale del quinto dito
iperkaliemia
difetti osteolitici della falange prossimale del quarto dito
iperglicinemia
difetti osteolitici della falange distale del quarto dito
ipertrigliceridemia
difetti osteolitici della falange distale del terzo dito
omocistinuria
sclerosi irregolare della falange media del terzo dito
azotemia
difetti osteolitici della falange distale del quinto dito
sclerosi irregolare della falange media del quinto dito
escrezione di eparan solfato nelle urine
sclerosi irregolare della falange media del quarto dito
iperomocistinemia
sclerosi irregolare della falange prossimale del quarto dito
iperlisinemia
sclerosi irregolare della falange prossimale del terzo dito
bassa attaccatura
sclerosi irregolare della falange distale del terzo dito
sclerosi irregolare della falange prossimale del quinto dito
displasia delle unghie
sclerosi irregolare della falange distale del quinto dito
formazione di pterigio
sclerosi irregolare della falange distale del quarto dito
alterata sensazione di vibrazione degli arti inferiori
sinfalangismo che interessa la falange media del quarto dito
danno di discorso neurologico
sinfalangismo che interessa la falange media del terzo dito
discorso di scansione
sinfalangismo che interessa la falange prossimale del terzo dito
clonus
sinfalangismo che interessa la falange media del quinto dito
emorragia intracranica
sinfalangismo che interessa la falange prossimale del quinto dito
gliosi
sinfalangismo che interessa la falange prossimale del quarto dito
instabilità posturale
sinfalangismo che interessa la falange distale del quarto dito
crisi ipoglicemiche
sinfalangismo che interessa la falange distale del terzo dito
tremore posturale
sinfalangismo che interessa la falange distale del quinto dito
compressione del midollo spinale
sinfalangismo prossimale
medio del quarto dito del piede
sinfalangismo prossimale
medio del terzo dito del piede
sinfalangismo della falange prossimale del secondo dito con il secondo metatarso
opistotono
sinfalangismo prossimale
medio del quinto dito del piede
neurodegenerazione
sinfalangismo della prima falange del quarto dito con il quarto metatarsale
edema cerebrale
sinfalangismo della prima falange della terzo dito con il terzo metatarso
falange distale a forma triangolare del quinto dito
fonofobia
sinfalangismo della falange prossimale del quinto dito con il quinto metatarso
sinfalangismo prossimale
medio del secondo dito del piede
grovigli neurofibrillari
sinfalangismo della falange prossimale dell'alluce con il primo metatarso
aprassia
anomalia delle articolazioni degli arti inferiori
disabilità intellettuale, profonda
camptodattilia del dito
ritardata mielinizzazione del Sistema Nervoso Centrale
ipoammonemia
eccessiva sonnolenza diurna
contratture alle articolazioni che coinvolge le articolazioni dei piedi
cisti del plesso corioideo
mastocitosi
spasticità progressiva
anomalia dei mastociti
carenza di vitamina B3
sintomi comportamentali pseudobulbari
anomalia del metabolismo della vitamina B3
ritardo dello sviluppo motorio lordo
deviazione tibiale delle dita dei piedi
disgenesia del verme cerebellare
deviazione delle dita dei piedi
mielopatia
bronchiolite ricorrenti
convulsioni generalizzate
deviazione fibulare delle dita dei piedi
dilatazione del quarto ventricolo
carenza di vitamina B1
crisi epilettiche ipocalcemico
carenza di vitamina B12
segni pseudobulbari
carenza di vitamina B5
carenza di vitamina B2
versamento pleurico
carenza di folato
paralisi respiratoria
carenza di vitamina B8
embolia polmonare
anomalia del metabolismo della vitamina C
infezioni respiratorie ricorrenti
anomalia del metabolismo della vitamina
fibrosi polmonare
anomalia del metabolismo della vitamina D
diffuse infiltrazioni reticolari o finemente nodulare
carenza di vitamina C
peli grossolani
carenza di vitamina E
capelli radi
carenza di vitamina D
pollachisuria
ciuffo bianco
anomalia del metabolismo della vitamina E
capelli ricci
neoplasma dell'uretra
capelli lisci
neoplasma dell'uretere
anuria
peli radi ascellari
disuria
ingrigimento precoce dei capelli
neoplasma del timo
crescita lenta dei capelli
oliguria
capelli grigio-argento
ascesso epatico
ipertricosi facciale
timoma
aggregazione di pigmento di melanina nei bulbi dei capelli
fistola dell'uraco
peli ascellari assenti
arto duplicazione
neoplasia della pleura
sopracciglia assenti
neoplasia dei polmoni
capelli lanosi
anomalia dell'omeostasi del fosfato
radi peli pubici
blastoma pleuropolmonare
sopracciglio bianco
deformità delle ginocchia quot;wind-sweptquot;
ciglia bianche
anomalia del metabolismo calcio-fosfato
anomalia infiammatoria dell'occhio
alopecia areata
sclerite
irsutismo generalizzato
diastasi tibiofibulare
capelli radi
episclerite
alopecia irregolare
fascite
anomalia della fascia
calvizie precoce
edema periorbitale
pili canaliculi
anomalia delle creste sopraorbitali
upsweep frontale dei capelli
ernia femorale
edema palpebrale
deterioramento cognitivo
emorragia gastrointestinale
localizzazione anormale dei reni
epatomegalia
stenosi arteriosa
neoplasma del cuore
anomalia dell'intestino
anomalia del prosencefalo
enteropatia da perdita di proteine
stenosi carotidea
anormalità dell'intestino tenue
diverticolo di Meckel
estrofia
anomalia del duodeno
neoplasma della trachea
atresia duodenale
rottura dei tendini
ematemesi
emipertrofia dell'arto inferiore
melena
neoplasia del sistema tracheo-bronchiale
anomalia dell'intestino crasso
crescita asimmetrica
megacolon aganglionico
Megacolon
emipertrofia dell'arto superiore
emiatrofia dell'arto inferiore
diverticolosi colica
emiatrofia
diarrea intermittente
asimmetria di arto inferiore
emiatrofia dell'arto superiore
diverticoli nell'intestino tenue
lesioni al midollo spinale
rinite cronica
asimmetria degli arti superiori
diastomatomielia
diplomielia
hidromielia
triplomielia
esagerata cupido di prua
amielia
ossificazione vertebrale anormale
grandi orecchie carnose
neoplasia del sistema endocrino
cloniche focali
diverticolo cardiaco
risposta di startle esagerata
cancroide
distonia parossistica
diverticolo cardiaco muscolare
anomalia della migrazione neuronale
diverticolo cardiaco fibroso
anomalia del sistema nervoso autonomo
neoplasia della colecisti
disregolazione autonomica
neoplasia del tratto biliare
infiammazione della vescica urinaria
tetraparesi
amaurosi fugace
telangiectasia mucosale
scarsa coordinazione motoria
lipoatrofia
megacalicosi
sindrome di Horner
esofago di Barrett
perforazione corneale
poliposi nasale
cisterna magna allargata
teleangiectasia ereditario della pelle
eterotopia della materia grigia
endocardite
eterotopia
anomalia del prepuzio
atrofia cerebrale diffusa
leucocituria asettico
fistola urogenitale
parafimosi
capelli chiari
alopecia progressiva
fistola rettale
calcificazione della cartilagine
alopecia universalis
ascesso peritoneale
poliosis
camptocormia
plica esofagea
calvizie frontale
Alopecia androgenetica
perdita dei capelli
Alopecia
narici assenti
difallia
edema polmonare
ipotricosi progressiva
eclampsia
capelli rossi
trasposizione penoscrotale
capelli assenti
tossiemia della gravidanza
capelli fragili
preeclampsia
mutismo
neoplasia della laringe
emiplegia
neoplasma del labbro
dismenorrea
neoplasia dell'apparato respiratorio
acinesia
atetosi
metrorragia
malattia da rene ipoplasico glomerulocistico
atto dello sbavare
Dribbling
Scialorrea
iperfenilalaninemia materna
malformazione di Arnold-Chiari
morte nella prima età adulta
neoplasma odontogenico
discinesia orofacciale
neoplasia ovarica
mancanza di coordinazione
miosite
goffaggine
seminoma testicolare
paraparesi spastica tropicale
teratoma testicolare
degenerazione dei tratti corticospinale-laterale
neoplasma delle cellule di Sertoli
mal di testa
neoplasia delle cellule di Leydig
disgerminoma
andatura instabile
germinoma
mielopatia cervicale
anomalia del corpo cavernoso
convulsioni materne
torace allargato
vertigine
sclerosi del corpo cavernoso
tremore a riposo
spostamento del meato uretrale esterno
anencefalia
insufficienza epatica cronica
idranencefalia
schisi della linea facciale centrale
diverticolo esofageo
attacco ischemico transitorio
neoplasia della ghiandola surrenale
neoplasia del rinofaringe
esofagite
sonnolenza
sequestro polmonare
sonnolenza parossistica
paraganglioma carotideo
mal di testa
neoplasma neuroendocrino
mancanza di relazioni tra pari
deterioramento del motore
paraglioma polmonare
anomalia del verme cerebellare
anomalie erettili
agenesia del verme cerebellare
neoplasie della faringe
neoplasma della corteccia surrenale
cisti laringea
anomalia del colore delle unghie
anomalia del nucleo caudato
neoplasia del midollo surrenale
atrofia caudata
cistocele
compressione della corda cervicale
melanonichia
disabilità intellettuale, moderata
malattia di Graves
idrocefalia normale di pressione
tiroidite
deterioramento neurologico progressivo
neoplasia della cavità orale
tremore di azione
neoplasma della lingua
tremore testa
diabete mellito di tipo I
neoplasia vaginale
neurite ottica
convulsioni focali senza compromissione della coscienza o consapevolezza
Crisi parziale semplice
Crisi parziale complessa
cisti cerebellari
neurite ottica retrobulbare
Neurite ottica
leucoencefalopatia
celosomia
anomalia nell'elettroencefalogramma
difetti della parete toracoaddominale
disturbi della memoria
Oblio
anomalia del sistema vascolare cerebrale
difficoltà nel camminare
Disbasia
cellulite
crampo dello scrittore
nevralgia del trigemino
disfasia
discinesia
sinotia
frequenti cadute
condrite
disturbi del sonno
angioedema
Angioedema ereditario
deterioramento psicomotorio
andatura mescolamento
anomalia del tronco cerebrale
pigmentazione anormale della cavità orale
ipoplasia del tronco cerebrale
duplicazione intestinale
anormalità del neurone motore inferiore
morfologia anormale dell'osso trabecolare
allucinazioni visive
trabecolazione dell'osso ruvido
idrocele vaginale
ernia vaginale
scarso coordinamento
piocele vaginale
perdita di discorso
ematocele vaginale
elettroencefalogramma interictale normale
varicocele vaginale
convulsioni febbrili
linfocele vaginale
movimento diminuito
mancanza di elasticità della pelle
ipocinesia
rughe precoci della luce
regressione dello sviluppo
duplicazione esofagea
paralisi del nervo cranico paraganglioma-correlata
tremore della mano
atresia della trachea
fascicolazioni
anomalia delle fibre di Sharpey
afasia
neoplasia delle ghiandole salivari
poliotia
encefalite
entesite
convulsioni focali con alterazione della coscienza o consapevolezza
Crisi parziale semplice
Crisi parziale complessa
spessore corneale diminuito
paraparesi
anomalia della curvatura della cornea
distrofia cornea centrale mosaica
iridodonesi
cavo setto pellucido
aumentata curvatura della cornea
malformazione arterovenosa spinale
lipedema
torsione tibiale
elettroencefalogramma con complessi di onde poli-spike
neurofibrosarcoma
cicatrici
iperreflessia di arto inferiore
neurofibromi sottocutanei
rigidità della ruota dentata
anomalia della pia madre
anomalia dell'aracnoide
degenerazione delle cellule del corno anteriore
spinta linguale atipica
cisti aracnoidee
anomalia delle cellule gliali
episodi tipo stroke
deficit visivo corticale
Cecità corticale
anomalia degli astrociti
segno di Romberg positivo
anomalia dell'oligodendroglia
peduncolo cerebellare superiore ispessito
riduzione dell'oligodendroglia
anomalia della microglia
dismetria degli arti
anomalia della colonna vertebrale toracica
impulsività
malformazione arterovenosa cerebrale
anomalia del rachide lombare
stenosi acqueduttale
miochimia
anomalia del cemento
comportamento auto-nocivo
spina bifida
coloboma della lente
leucodistrofia
rottura uterina
cisti subependimali
linfadenopatia mediastinica
ipoplasia della cartilagine dell'orecchio
anomalia del mesencefalo
tumore dello stroma gastrointestinale
Tumore stromale gastrointestinale
segno del dente molare nella risonanza magnetica
lichenificazione
scarso controllo testa
ipercoagulabilità
istiocitosi
segni Long-tract
sarcoma di Kaposi
viso grande
anartria
neoplasia delle cellule germinali
facciale trasversale schisi
afasia del motore
cisti broncogena
neoplasia della ghiandola paratiroide
fibrosi pancreatica
crisi ipertensive
anomalia delle epifis vertebrali
anomalia del palato duro
anomalia del palato molle
bulimia
meningocele
mangiare comportamento anormale
meningocele occipitale
malformazione cerebellare
neoplasia del retto
demenza frontolimbica
neoplasma vascolare
anomalia dell'articolazione omeroulnare
anomalia del giunto omeroradiale
discalculia
macrodattilia del dito del piede
macrodattilia del dito
amartoma ipotalamico
dolore toracico
tetraplegia
edema muscolare
astrocitosi
neoplasia esofagea
atelectasia
encefalopatia progressiva
schizofrenia
lobatura epatica anormale
anomalia dei neuroni di motore
anomalia della salivazione
distonia degli arti
mania
pancreatoblastoma
anomalia del globus pallidus
anomalia del globus pallidus ad occhio di tigre
clubbing delle dita
cancrena
angiomatosi viscerale
movimenti anomali della testa
clubbing delle dita dei piedi
anomalia del sistema linfatico
disautonomia
emobilia
debolezza muscolare distale
anomalia delle tonsille
calcificazioni dense nel nucleo dentato cerebellare
linfangioma
anomalia della placenta
squilibri nel linguaggio
anormalità dei vasi linfatici
disartria spastica
sinovite
scarsa capacità di elaborare discorsi
coriocarcinoma
ipoperistalsi
iperperistalsi
distruzione della cartilagine
atassia cerebellare progressiva
ectasia durale
iperostosi
corteccia cerebrale piccola
esostosi
faringite ricorrente
ritardo del linguaggio espressivo
anomalia del seno urogenitale
meningomielocele
crioglobulinemia
riflessi primitivi
Riflessi neonatali
Riflesso
anomalia dell'articolazione sacroiliaca
amartoma congiuntivava
quadriplegia spastica progressiva
aplasia del seno
encefalopatia epatica
insonnia
fistola arterovenosa periferica
neoplasia della prostata
segni bulbari
ipersonnia
toro palatino
labbra fuse
miotonia
ipercinesi
ernia
leucemia acuta
acantolisi
aumento del lattato nel fluido cerebro-spinale
anormalmente diritta della colonna vertebrale
spasticità dei muscoli facciali
precoce coinvolgimento delle vie corticospinale
displasia dell'unghia del piede
disfunzione del tratto corticospinale
orchite
sonno anormale con movimento rapido degli occhi
neoplasia dell'orecchio medio
alterata sensazione vibratoria
displasia unghia
aplasia pancreatica
atassia spastica
aplasia
ipoplasia del pancreas
anomalia della regione periungueale
malposizione dello stomaco
anomalia della materia bianca subcorticale
menopausa precoce
spasticità dei muscoli faringei
fibroma ungueale
lunghe dita
degenerazione del tratto spinocerebellare
Atassia spinocerebellare
sepsi
calcificazione dei piccoli vasi del cervello
ipersensibilità del cuoio capelluto
progressiva incapacità di camminare
diverticolo gastrico
atrofia cerebrale diffusa
aplasia
ipoplasia del colon
oloprosencefalia semilobare
elica a punta
ipoplasia
displasia del tronco cerebrale
torsione testicolare
ipertonia degli arti
alitosi
tetraplegia spastica
forma ad esordio tardivo della malattia di Alzheimer familiare
nevo blu
Macchia mongolica
compressione del tronco cerebrale
ipertensione nefrovascolare
iperpigmentazione del labbro
calcificazione cerebrale
fistola intestinale
andatura ondeggiante
torace lungo
aumento della pressione intracranica
uretrocele
glomerulopatia
anomalia della sostanza bianca periventricolare
ernia genitale
allucinazioni ipnagogiche
rettocele
cheilite
ipsaritmia
areflessia degli arti inferiori
linfocitosi
neoplasma del chiodo
cataplessia
galattorrea
aumento del numero delle cellule T
Deficit nella ripetizione nonword
anomalia del metabolismo della vitamina K
cadute
orecchio circolare
degenerazione granulovacuolare
neoplasia dell'intestino tenue
perdita di neuroni nel sistema nervoso centrale
Neurone
miodesopsia
distonia assiale
neoplasia benigna del sistema nervoso centrale
neoplasia dell'intestino crasso
atrofodermia vermiculata
postura anormale
neoplasia maligna del sistema nervoso centrale
agenesia epatica
formazione di ascessi cutanei ricorrenti
rotazione corticale anormale
microgastria
aplasia
ipoplasia del sopracciglio
anomalia della corteccia cerebrale
glioblastoma
displasia corticale
displasia setto-ottica
incapacità di camminare
shock anafilattico
fistola pancreatica
atrofia olivopontocerebellare
pustole palmoplantari
Retrocollis
neoplasia dello scroto
demielinizzazione a chiazze della sostanza bianca sottocorticale
neoplasia dei genitali esterni maschili
formulazione di discorsi incomprensibile
comportamento anormale emozione
effetto
neoplasia del pene
parkinsonismo con risposta favorevole alla terapia dopaminergica
areola ipoplastico
deficit nella memoria fonologica a breve termine
comportamento anormale di paura
ansia-correlati
peli facciali assenti
ipoplasia del tricipite
aplasia della muscolatura
tricodisplasia
sella turcica piatta
sopracciglio ogivale
scarsamente ossificate vertebre
aneurisma dell'arteria mesenterica superiore
peli pubici assenti
aneurisma dell'arteria celiaca
sclerosi del corpo vertebrale
capezzoli ipoplastici
aneurisma dell'arteria mesenterica inferiore
capezzoli soprannumerari
aplasia del collo femorale
aplasia della testa femorale
ischio ampio
capezzoli assenti
ipoplasia del collo femorale
capezzoli inseriti in basso
stenosi duodenale
pericardite costrittiva
breve delle ossa iliache
malformazione del cuore e dei vasi grandi
teleangiectasia palmare
malrotazione intestinale
anomalia della palma
teleangiectasia plantare
anomalia della pelle plantare del piede
steatorrea
emimacroglossia
acalasia
capelli spessi
vomito episodico
diverticolo renale
ematochezia
Dissenteria
piega infraorbitale
dolore addominale episodico
ovaie allargate
fistola tracheoesofagea
utero allargato
intussuscezione
nefroma mesoblastico congenito
anomalia dello stomaco
riposo nefrogenico
gastroparesi
corangioma
dismotilità gastrointestinale
amartoma fibroso
volvolo
anomalia venosa laterale
scoliosi compensatoria
gastrite atrofica cronica
anomalia di dimensione del globo
colite
anomalia della posizione del globo
sanguinamento intestinale
anomalia del dotto coledoco
anomalia del peritoneo
loop interdigitale
peritonite
processo xifoideo bifido
vomito a getto
cisti del dotto coledoco
ulcera duodenale
processo xifoideo prominente
atresia gastrointestinale
anomalia del processo xifoideo
ileo paralitico
polifagia
ampio processo xifoideo
ulcera gastrica
linfangectasia intestinale
poliposi rettale
ipoplasia pancreatica
sclerosi delle falangi della mano
ileo
nevo del tessuto connettivo
sclerosi della falange distale del terzo dito
anomalia del sistema vascolare
sclerosi della falange distale del secondo dito
sclerosi della falange distale del quinto dito
titubazione della testa
sclerosi della falange distale del quarto dito
iporeflessia degli arti inferiori
sclerosi della falange media del terzo dito
paresi dei muscoli estensori dell'alluce
sclerosi della falange media del secondo dito
sclerosi della falange media del quinto dito
sclerosi della falange media del quarto dito
gastrointestinale teleangiectasia
sclerosi della falange prossimale del terzo dito
necrosi epatica
sclerosi della falange prossimale del secondo dito
sclerosi della falange prossimale del quinto dito
incontinenza fecale
sclerosi della falange prossimale del quarto dito
celiachia
sclerosi della falange prossimale del pollice
sclerosi della falange distale del pollice
sclerosi delle falangi distali della mano
epatopatia colestatica
sclerosi del primo metacarpo
fibrosi epatica congenita
sclerosi delle falangi prossimali della mano
cirrosi biliare
sclerosi delle falangi della mano
necrosi epatica periportal
sclerosi delle falangi medie del terzo dito
ipotensione
sclerosi delle falangi medie del secondo dito
dilatazione della radice aortica
sclerosi delle falangi medie del quinto dito
aneurisma
sclerosi delle falangi medie del quarto dito
sclerosi delle clavicole
vene varicose
sclerosi delle falangi medie del pollice
sclerosi delle ossa dei piedi
aterosclerosi
sclerosi delle falangi delle dita
dissezione dell'aneurisma aortico
sclerosi delle falangi del terzo dito
aorta grande
sclerosi delle falangi medie del secondo dito
anomalia venosa
sclerosi delle falangi medie del quinto dito
profonda trombosi venosa
sclerosi delle falangi medie del quarto dito
varicosità venosa dei vasi celiaci e mesenteriche
sclerosi della falange prossimale del secondo dito
arco aortico di destra con ramificazione immagine speculare
sclerosi delle falangi medie dell'alluce
sclerosi della falange prossimale del quarto dito
malformazione arterovenosa gastrointestinale
sclerosi della falange prossimale del terzo dito
malassorbimento dei grassi
sclerosi della falange media del secondo dito
ascendente aneurisma aortico
sclerosi della falange prossimale del quinto dito
pressione sanguigna da bassa a normale
sclerosi della falange media del quarto dito
vasculite
sclerosi della falange media del terzo dito
arteriosclerosi
sclerosi della falange distale del secondo dito
ateromatosi
sclerosi della falange media del quinto dito
aneurisma di un'arteria addominale
sclerosi della falange distale del quarto dito
ischemia cerebrale
sclerosi della falange distale del terzo dito
tromboflebite superficiale
sclerosi della falange prossimale dell'alluce
sindrome di Budd-Chiari
sclerosi della falange distale del quinto dito
ipertensione associata con feocromocitoma
sclerosi del primo metatarso
trombosi periferica
sclerosi della falange distale dell'alluce
fistole artero-venose dei vasi celiaci e mesenterici
sclerosi delle falangi delle dita
afflizione respiratoria neonatale
sclerosi delle falangi prossimali delle dita
anomalia della morfologia dell'osso cintura pelvica
ossa wormiane
sclerosi delle falangi distali delle dita
fossa interpeduncolare allargata
dissezione aortica
deficit della 3 idrossiacil-CoA-deidrogenasi a catena lunga
anomalia della morfologia della volta cranica
scissura interemisferica allargata
cisterna silviana dilatata
scoliosi
granuloma delle cellule giganti della mandibola
displasia spondiloepimetafisaria
opercolo aperto
displasia scheletrica
anormalità del midollo renale
dolore alle ossa
displasia epifisaria multipla
bande dense metafisarie
displasia spondiloepifisaria
foramen stretto e otturato
displasia epifisaria
ippocampo allargato
displasia spondilometafisaria
ventricoli asimmetrici
iperestesia
aumentata suscettibilità alle fratture
timidezza
fratture indolori da infortunio
ritardata ossificazione epifisaria
neoplasma
Oncologia
linfoma
feocromocitoma
nefroblastoma
Tumore di wilms
paraganglioma
osteosarcoma
carcinoma basocellulare
carcinoma gastrointestinale
coxa valga
cranio a trifoglio
foro occipitale ridotto
asimmetria del cranio
anomalia del turcica di sella
sella turcica a forma di J
deformata sella turcica
cranio largo
anomalia della calvaria
calvaria ispessita
anomalia materna prenatale
anormalità dei seni frontali
obliterazione dei seni frontali
seni paranasali assenti
grande sella turcica
platibasia
ipoplasia delle ossa facciali
anomalia della base del cranio
sclerosi della base del cranio
difetti simmetrici dell'osso parietale ovale
anomalia dell'osso parietale
forami parietali
anomalia del foramen magnum
grande foro occipitale
anomalia dell'ossificazione del cranio
palato stretto in alto
telangectasia del palato
rafe palatale mediano prominente
fossa del labbro commissurale
solco mediano della lingua esagerato
disegnati angoli della bocca
anomalia del sistema immunitario
linfadenopatia
iperattività surrenalica
infezioni batteriche ricorrenti
infezioni ricorrenti
deficit di IgA
immunodeficienza
formazione di ascessi ricorrenti
assenza di battericida ossidativo 'burst respiratorio' nei fagociti
infezioni ricorrenti da Aspergillus
lupus eritematoso sistemico
infezioni ricorrenti Staphylococcus aureus
candidosi cronica mucocutanea
iperplasia follicolare
linfoadenopatia non infettiva cronica
apoptosi dei linfociti difettosa
ipoplasia del linfonodo
anomalia dei linfonodi
spessore base del cranio
ipoplasia dei seni frontali
infezioni ricorrenti E. coli
infezioni ricorrenti Serratia marcescens
infezioni ricorrenti Klebsiella
infezioni ricorrenti enteroviral
schisi bilaterale del labbro e del palato
leucoplasia orale
Leucocheratosi orale
insufficienza respiratoria secondaria dovuta a debolezza muscolare
rachitismo
osteomalacia
ritardata maturazione scheletrica
cifoscoliosi
trabecole ossee Sparse
sottile corteccia ossuta
osteomielite
osteomielite a causa dell'immunodeficienza
frattura patologica
fratture ricorrenti
osteoartrite
lassità articolare generalizzata
esostosi multiple
morfologia anormale della cartilagine
calcificazione punteggiata della cartilagine
spina dorsale relativamente breve
stenosi tracheale
anomalia della trachea
Trachea
tracheomalacia
broncomalacia
ostruzione delle vie respiratorie superiori
ricorrenti infezioni del tratto respiratorio inferiore
tracheobronchomalacia
calcificazione ectopica trachea
infezioni ricorrenti delle vie respiratorie superiori
tachipnea
deregolazione di respirazione neonatale
ipoventilazione
ridotta capacità vitale
pattern anormale di respirazione
anomalia funzionale respiratoria
osteolisi
contratture congenite
artrogriposi multipla congenita
età ossea accelerata dopo la pubertà
cifosi
metafisi a forma di manubrio
coxa vara
anomalia della morfologia delle ossa degli arti
anomalia dell'arto inferiore
anomalia delle ginocchia
genu recurvatum
anomalia dell'arto superiore
anomalia del raggio
artropatia neuropatica
iperplasia dei trocanteri femorali
anomalia del femore
appendice caudale
bacino a forma di alabarda
lussazione dell'anca
contratture articolari multiple
artralgia
coccige lungo
punteggiatura calcificante
angiomatosi cistica dell'osso
svasato metafisi femorale
aspirazione
estrofia vescicale
bronchiti ricorrenti
disfunzione dello sfintere della vescica urinaria
linfadenite
infezioni fungine ricorrenti
infezioni ricorrenti da Burkholderia cepacia
anomalia delle cellule T
aumentato numero di cellule T CD3 + periferiche
anomalia delle cellule B
alterata la generazione di cellule B di memoria
risposta anticorpale moderatamente depressa agli antigeni polisaccaridici
assenza di linfonodo centro germinale
deficit di IgM
aumentato numero di cellule T CD4-
CD8 che esprimono i recettori alfa
beta delle cellule T
aumentata proporzione di cellule HLA DR+ e CD57+ T
genu valgum
meningioma
rabdomiosarcoma
carcinoma a cellule squamose
melanoma
carcinoma della vescica
mielodisplasia
paraganglioma della testa e del collo
carcinoma midollare della tiroide
ipoplasia delle ossa iliache
anomalia dell'ilium
creste iliache strette
creste iliache dilatate
apnea ostruttiva
apnea centrale
episodi apneici causati da malattia, stanchezza, stress
dispnea da sforzo
tachipnea episodica
ipoventilazione notturna
insufficienza respiratoria nell'infanzia
anisospondilia
difficoltà respiratorie
apnea episodica improvvisa
iperventilazione
epatoblastoma
medulloblastoma
paraganglioma vagale
ependimoma
carcinoma della tiroide
leiomiosarcoma uterino
adenoma pituitario
neoplasia del pancreas
Tumore del pancreas
carcinoma papillare della tiroide
neoplasia del fegato
Tumore del fegato
Carcinoma epatocellulare
adenoma paratiroideo
neoplasia embrionale
ipopotassiemia
ipocalcemia
iponatriemia
iperbilirubinemia
iperfosfatemia
microematuria
iperbilirubinemia coniugata
aminoaciduria generalizzata
elevati livelli di transaminasi epatiche
acidemia metilmalonica
mioglobinuria
aumentato cloruro urinario
anomalia nella segregazione cromosomica
ipomagnesemia
ipermagnesemia
chetonuria
diminuito livello di ACTH in circolazione
anomalia del liquido cerebrospinale
aumento della proteina CSF
fattore reumatoide positivo
diminuito livello di aldosterone in circolazione
eccesso di ormone distimolazione
anomalia della fisiologia della tiroide
istidinuria
diminuita attività del complesso della piruvato deidrogenasi
insensibilità delle cellule di Leydig alla gonadotropinaa
difetto del recettore dell'ormone tiroideo
deficit di aldeide ossidasi
ernia ventrale
danno sensitivo distale
emivertebre
iperlordosi lombare
Lordosi
cifosi toracica
scoliosi toracica
scoliosi toracolombare
restringimento dello spazio intervertebrale
vertebre soprannumerari
cifosi cervicale
fusione vertebrale
fusi vertebre cervicali
Sindrome di klippel-feil
agenesia parziale del verme cerebellare
fratture vertebrali di compressione
Frattura vertebrale da compressione
granulomatosi
disregolazione immunitaria
alterata ricombinazione della classe di Ig
autoimmunità
Malattia autoimmune
disgammaglobulinemia
test di ipersensibilità della pelle anormale e ritardato
anergia cutanea
cubito valgo
genu varum
microvilli assenti sulla superficie dei linfociti del sangue periferico
ridotta ipersensibilità ritardata
anomalia dell'avambraccio
sinostosi
aplasia
ipoplasia che coinvolge il sistema nervoso centrale
incurvamento delle gambe
incurvamento femorale
anomalia del polpaccio
curvatura tibiale
accorciamento dell'arto
ipoplasia del raggio
inchinandosi radiale
contrattura nella flessione del gomito
aplasia del perone
anomalia del perone
anomalia della tibia
movimento limitato del gomito
anomalia dell'ulna
lussazione della rotula
tumore giugulare glomico
carcinoma del seno
cancro al colon
ganglioneuroma
neuroblastoma
avanzata neurotossicità della vincristina
prolungato tempo di sanguinamento
anomalia della muscolatura
epifisi sporgenti
metafisi larghe
ampliamento metafisario
anomalia del polso
allargamento dei polsi
allargamento a coppa delle metafisi
ipoplasia dell'ulna
incurvamento degli arti a causa di fratture multiple
irregolarità metafisaria
brevi ossa lunghe
mesomelia
anomalia delle caviglie
allargamento delle caviglie
inchinandosi ulnare
osteosclerosi craniodiafisaria
articolazioni allargate
ipoplasia fibulare
artropatia
sinostosi omeroradiale
lussazione del gomito
anomalia della spalla
contrattura di flessione spalla
anomalia della rotula
sublussazione della testa radiale
deviazione ulnare del polso
metafisi allargata
deformità epifisaria delle ossa tubolari
tetramelia
anomalia delle articolazioni radio-ulnari
anomalia dell'omero
ipoplasia patellare
limitata estensione del ginocchio
deformità di Madelung
deformità dell'avambraccio tipo Madelung
anchilosi del gomito
appiattito epifisi
ipercalcemia
ipoalbuminemia
iperglicemia
ipoproteinemia
glicosuria
iperlipidemia
riparazione difettosa del DNA dopo danni da radiazione ultravioletta
idrossiprolinuria
potassio urinario aumentato
teste radiali delocalizzate
fratture delle ossa lunghe
fibule sproporzionatamente lunghe
acromesomelia
artrosi precoce
contratture al tendine posteriore del ginocchio
ipoplasia dell'epifisi femorale capitale
modifiche trofiche degli arti
estensione dell'anca limitata
artrite settica
femore corto
iperaccrescimento fibulare
osso lungo esile
valgismo del gomito
morfologia anormale dell'osso corticale
protuberanze alle estremità delle ossa lunghe
erosioni subperiosteali a causa di iperparatiroidismo secondario
anomalia del metabolismo del colesterolo
iperglicinuria
iperfosfaturia
Esame delle urine
concentrazione dell'anione anormale dell'urina
anomalia dell'omeostasi ionica
anormalità dei livelli di aminoacidi nel siero
ipocloremia
EKG anormale
ecocardiogramma anormale
anomalia nel livello di ormone in circolazione
aumentato livello di cortisolo in circolazione
anomalia del metabolismo dei lipidi
Dislipidemia
contrattura congiunta degli arti
ipercolesterolemia
ridotta attività del fattore VIII
Emofilia
proteinuria a basso peso molecolare
ipocalciuria
acidosi lattica
anormale mielinizzazione periferica
cistinuria
anomalia dei tratti spinocerebellari
anomalia di conduzione del nervo periferico
prolinuria
aumentato azoto ureico nel sangue
panipogammaglobulinemia
inversione delle onde T nelle derivazioni precordiali destre
iperbetalipoproteinemia
produzione eccessiva di purine
livello aumentato di serotonina nel siero
diminuito adenosilcobalamina
ipocolesterolemia
elevato livello di fosfatasi acida del siero
iperuricosuria
aciduria glutarica
Acidosi organiche
aumentato livello di 1,25-diidrossivitamina D3 nel siero
cistationinuria
aumentato livello di ACTH in circolazione
fosfatasi alcalina elevata
ipostenuria
iperossaluria
anomalo punto isoelettrico della transferrina serica
aciduria 4-idrossifenilpiruvato
ipoglicemia a digiuno
elevato acido delta-aminolevulinico urinario
deficit dell'ormone ipotalamico rilasciante gonadotropina
elevato livello di paratormone  in circolazione
livello aumentato di taurina urinaria
carnosinuria
dibasicaminoaciduria
anomalia dell'acetabolo
anomalia delle ossa pubiche
ipoplasia delle ossa pubiche
anomalia dell'ischio
ischio ipoplastico
ossa iliache squadrate
protrusio acetaboli
tetto acetabolare piatto
fossae acetabolari poco profonde
ampia sinfisi pubica
diminuita abduzione dell'anca
solchi sacroiliaci stretti nell'infanzia
capezzoli invertiti
ipoplasia mammaria
naso lungo
fossetta all'ala nasi
rinite allergica
breve ponte nasale
naso corto
miopatia
massa muscolare diminuita
fibre rosse striate a ridotta attività della COX
Sindrome merrf
rabdomiolisi
amiotrofia
Atrofia muscolare
test di riduzione del nitroblue tetrazolio  negativo
accumulo intracellulare di lipopigmenti autofluorescenti
accumulo intracellulare curvilineare di lipopigmenti autofluorescenti
diminuita attività della NADPH ossidasi
calcificazione arteriosa
traccia di accumulo intracellulare di lipopigmenti autofluorescenti
diminuita attività della piruvato carbossilasi
diminuita attività di metilmalonil-CoA mutasi
aumentato livello di IgE
escissione carente di dimeri di pirimidina UV-indotta nel DNA
prolungata fase G2 del ciclo cellulare
aciduria dicarbossilica
deposito generalizzato di amiloide
iperglutaminemia
oroticaciduria
aciduria da acido etilmalonico
anomalia della stabilità del cromosoma
rottura cromosomica indotta da agenti cross-linking
metilcobalamina diminuita
aumento della sensibilità cellulare ai raggi UV
ridotta attività del fattore V
Fattore v
accumulo rettilineo intracellulare di  lipopigmenti autofluorescenti
ipernatremia
ipertirosinemia
enzima malico mitocondriale ridotto
ipoalfalipoproteinemia
diminuita carnitina al plasma
ipermetioninemia
creatin-fosfochinasi elevata nel siero
aumentato livello di IgG
iperpepsinogenemia I
fosfoetanolaminuria
aumentata fosforibosilpirofosfatasi  sintetasi
ipoplasia genitale
Ipogonadismo
ipospadia del pene
rafe scrotale prominente
crescita eccessiva dei genitali esterni
tessuto gonadico inappropriato per genitali esterni o sesso cromosomico
ulcere genitali
aplasia della vagina
infertilità maschile
genitali dislocati anteriormente
anomalia nella riparazione del DNA
anomalia della cascata della coagulazione
Coagulopatie
deficit di gliossalasi
creatinina sierica elevata
idrossiprolinemia
aumentato livello di IgA
positività all'anticorpo della muscola liscia
deficit di N-acetilglucosamina-1-fosfotransferasi
iperbilirubinemia neonatale
ridotta attività della orotidina 5-primo fosfato decarbossilasi
argininuria
leucodistrofia sudanofilica
distensione addominale
visceromegalia
anomalia dell'osso dell'anca
contrattura dell'anca
acetabulae ipoplastica
bacino stretto
esostosi pelviche
creste iliache costrette
bacino quadrato
coxa magna
aumentata ferritina sierica
fosfatasi alcalina bassa
cistationinemia
anomalia del metabolismo mitocondriale
difetto della mitocondriale propionil-CoA carbossilasi
livelli diminuiti di leptina nel siero
alterata secrezione di FSH e LH
ipertreoninuria
iperlisinuria
spina bifida occulta
corpi vertebrali ovoidali
piastre laterali vertebrali irregolari
spondilolistesi
spondilolisi
vertebre bloccate
rigidità spinale
iperlordosi
Lordosi
sublussazione cervicale
vertebre toracolombari ovoidali
anomalia del processo odontoide
ipoplasia del processo odontoide
forma anomala dei corpi vertebrali
vertebre a farfalla
ipermobilità del rachide cervicale
anomalia del rachide cervicale
sublussazione C1-C2
vertebre appiattite biconcave
debolezza muscolare progressiva
debolezza muscolare generalizzata
debolezza muscolare dei cingoli
mialgia
debolezza muscolare assiale
peli anormali all'esame di laboratorio
pozzi dei capelli appiattiti a intervalli irregolari e contorte attraverso 180 gradi attorno al proprio asse
struttura ossea anormale
spongiosa primaria metafisaria assente
aumentato livello di beta-esosaminidasi nel siero
elevato livello di catecolamine in circolazione
gonadotropine basse
ossificazione anomala encondrale
ridotto consumo di protrombina
necrosi focale delle cellule muscolari ventricolari destre
anemia megaloblastica responsiva alla pirimidina
separazione giunzionale
deficit di glutatione sintetasi
aciduria da 3 metil-glutarico
elevato livello di noradrenalina urinaria
alterata trasformazione dei linfociti con fitoemagglutinina
iperalaninemia
bassi tassi di esterificazione del colesterolo
diminuito livello di renina circolante
endopoliploidia negli studi cromosomali del midollo osseo
carenza di propionil-CoA carbossilasi
ipertreoninemia
aminoaciduria
ormone timico diminuito
cistina intracellulare elevata
diminuzione del solfato urinario
triptofanuria
livello aumentato di colesterolo VLDL circolante
situs inversus addominale
Situs inversus
artralgia dell'anca
anomalia della regione testa-collo femorale
anomalia del collo femorale
anomalia della testa femorale
epifisi femorale capitale piatta
allargamento dell'epifisi femorale prossimale
restringimento delle incisura ischiatica maggiori
andatura di tipo quot;steppagequot;
degenerazione
rigenerazione assonale
diminuito numero di fibre nervose mielinate periferiche
modifiche ipertrofiche del nervo
formazione del bulbo di cipolla
atrofia assonale periferica
diminuito numero delle grandi fibre nervose periferiche mielinate
facile affaticabilità
neuropatia assonale sensoria
segno di Gower
Segno di gowers
debolezza muscolare del primo dorsale interossei
epifisi allargata
atrofia del muscolo tenare
crampi muscolari
età ossea disarmonica accelerata
età ossea disarmonica
siringomielia
dimensioni abnormi delle fenditure palpebrali
generalizzata ipotonia dovuta a difetto alla giunzione neuromuscolare
forma obliqua della fenditura palpebrale
anomalia della giunzione neuromuscolare
forma anomala della fenditura palpebrale
formazione della lamina basale 'a bulbo di cipolla'
abnorme lunghezza del corpo calloso
parestesia
diminuiti potenziali della placca neuromotrice
EMG: risposta decrementale del potenziale d'azione muscolare composto  alla stimolazione nervosa ripetitiva
poliposi intestinale
depigmentazione simmetrica dell'alluce
diffuso rigonfiamento assonale
compressione del nervo periferico
neoplasia del tessuto adiposo
corpo calloso breve
danno sensitivo distale di tutte le modalità
protanomalia
agenesia della materia bianca
metafisi femorale prossimale irregolare
acrocheratosi
priapismo
anomalia atlantoassiale
papilloma del plesso corioideo
dislocazione atlantoassiale
spalle inclinate verso il basso
erosioni corneale
stenosi del canale spinale
vertebre con schisi coronale
dolore ocularie
mal di schiena
dolore mandibolare
mal di schiena lombare
separazione prematura cromatidio
platispondilia
lesioni cutanee punteggiate da vasculite
difetto di segmentazione vertebrale
vasculite in pelle
Vasculite leucocitoclastica
cifoscoliosi toracolombare
mixedema pretibiale
placche sulla pelle
papule sulla pelle
atrofia del muscolo primo dorsale interossei
debolezza del muscolo tenare
anello di Kayser-Fleischer
pustole su pelle
ipomielinizzazione
vescicole di pelle
ridotta velocità di conduzione del nervo motorio
noduli sulla pelle
verruche
ulcera della pelle
neuropatia atassica sensitiva
erosione della pelle
crampi alla mano indotti dal freddo
cisti su pelle
MEPP prolungati
condrite della pinna
quot;grido di gattoquot;
assente riflesso di Achille
porocheratosi
sacro orizzontale
epifisi a staffa metacarpale
ipertonia degli arti superiori
ridotta dimensione delle terminazioni nervose
episodio cianotico
EMG: segni di denervazione cronica
mani piccole
EMG: modifiche neuropatiche
monodattilia
emipotrofia dell'arto inferiore
perdita assonale
ridotta velocità di conduzione del nervo sensoriale
angiosarcoma metastatico
crampi muscolari indotti dal freddo
angiosarcoma
rigenerazione assonale
pupilla di Marcus Gunn
tasso aumentato di condensazione cromsomica prematura
cicatrici maculari
livello aumentato di ferro nel siero
polipi del colon-retto
positività all'anticorpo antineutrofili
positività all'anticorpo della piastrina
elevati livelli di acidi grassi a catena lunga
basso AMP ciclico urinario in risposta alla somministrazione di PTH
aborto spontaneo ricorrente
anomalia nell' elettromiografia
degenerazione corneale a nastro
EMG: miopatiche anomalie
degenerazione coroidoretinale
elevazione policlonale di IgM
asimmetria della pigmentazione dell'iride
deficit totale di immunoglobulina A
degenerazione vitreoretinica periferica
aumentato livello di sialopeptidi O-linked
atrofia della retina periferica
elevato 8-deidrocolesterolo
aumentato lipopigmento autofluorescente extraneuronale
perdita visiva progressiva
omeostasi del colesterolo anormale
elevato 8 colesterolo
paradossale ed aumentata secrezione di cortisolo al test della soppressione di dexametasone
insufficienza respiratoria a causa di difettosa clearance ciliare
instabilità atlantoassiale
quadriplegia episodica
anomalia delle vertebre
dismielinatione periferica
paralisi
tetania ipocalcemica
accorciamento grave degli arti
debolezza alla fatica
danno sensitivo
Ipoestesia
neuropatia assonale
tremore degli arti
epatite cellula gigante
demielinizzazione
rimielinizzazione segmentale periferica
EMG: anomalia assonale
debolezza muscolare dell'arto superiore
morso aperto anteriore
morso aperto frontale
segno di Babinski
episodi acuti di sintomi neuropatici
pigmentazione della pelle assente
deidrogenazione difettosa del isovaleril-coA e butiril-coA
vescicole nella mucosa orale
pirofosfato elevato nelle urine
bocca aperta a forma triangolare
gonadotropine urinarie alte
positività agli anticorpi antinucleari
Anticorpi antinucleo
ciglia rade
assenti
riflessi della caviglia diminuiti
assenti
accumulo di ganglioside GM2
aumentato livello di IgM
braccia interne della dineina accorciati
braccia della dineina assenti o accorciati
statura sproporzionatamente bassa
unghia del quinto dito del piede assente
quinta unghia assente
testa della staffa assente
statura bassa, lieve
braccia esterne della dineina assenti o accorciate
accorciamento delle braccia esterne della dineina
alcalosi metabolica
afalangia delle mani e dei piedi
statura bassa, proporzionata
epatite acuta
malassorbimento di vitamina B12
statura bassa, grave
Nanismo
infezioni ricorrenti del tratto respiratorio inferiore e superiore
atresia ileale distale
epatite cronica
rapporto ridotto tra la clearance renale di calcio e la clearance della creatinina
epatite atipica o prolungata
carenza o assenza di citocromo b
epatite cronica attiva
cardiomiopatia atriale
lunghezza alla nascita maggiore del novantasettesimo percentile
cardiomiopatia amiolide
difetti della catena respiratoria mitocondriale
epatite cronica dovuta a infezione da cryptospridium
statura sproporzionatamente breve a causa del tronco
stenosi mitrale calcificante
ipertrofia biventricolare
diminuita attività di metionina sintasi
encefalopatia epilettica
cristalluria da acido orotico
meningocele lombosacrale
iperprostaglandinuria
calcitonina elevata
difetto di riassorbimento tubulare renale di calcio paratormone-indipendente
atresia bilaterale coanale
stenosi
acidemia da acido glutarico
disfagia orale-faringea
ornitinuria
iperplasia eritroide megaloblastica
ossidazione tardiva dell'acetaldeide
ridotta attività di xantina deidrogenasi
piccoli denti conici
aciduria da acido 3-metilglutaconico
diminuita attività di fumarato idratasi
perdita di neuroni nei gangli basali
ipouricemia
necrosi cistica mediale dell'aorta
attività aumentata della iduronato solfatasi nel siero
purpura anafilattoide
alterata aggregazione piastrinica
mastocitosi cutanea
escrezione urinaria di glicosaminoglicani
aumento della concentrazione di acidi biliari nel siero durante la gravidanza
aumento del piruvato nel siero
linfocitosi del fluido cerebrospinale
test della funzione epatica anormali durante la gravidanza
intolleranza all'esercizio
debolezza muscolare cingolo scapolare
accumulazi subsarcolemmali di mitocondri con forma alterata
anomalia del tessuto connettivo
linfedema prevalente all'arto inferiore
difficoltà a salire le scale
rigidità del muscolo
cellulite a causa dell'immunodeficienza
atrofia delle fibre muscolari di tipo 2
scissione della fibra muscolare
aumentata variabilità nel diametro della fibra muscolare
rabdomiolisi indotta da infezione virale
iperirritabilità del muscolo
distrofia muscolare
lunghezza alla nascita minore del terzo percentile
invasione vascolare metafiseale anormale
ipobetalipoproteinemia
sito fragile folato-dipendente in Xq28
elevata velocità di eritrosedimentazione
aumentato livello di prostaglandina E2 nel siero
diminuita attività della glucosio fosfato isomerasi
deficit del cofattore del molibdeno
propionicacidemia
citrullina bassa nel plasma
bilirubina totale aumentata
test del blocco della regitina positiva
aumentato sodio intracellulare
insorgenza congenita
insorgenza adulta
esordio tardivo
esordio insidioso
esordio Infantile
insorgenza di mezza età
urotione assente nelle urine
aciduria da acido 4-idrossifenilacetico
cellule schiumose con corpi di inclusione lamellari
metacromasia del fibroblasto
test positivo al cloruro ferrico
positività agli anticorpi anti-fosfolipidi
Sindrome da anticorpi antifosfolipidi
trimetilaminuria
separazione prematura dell'eterocromatina centromerica
esordio giovanile
esordio neonatale
amioplasia generalizzata
perdita di tessuto adiposo sottocutaneo degli arti
ridotta attività di 4-idrossifenilpiruvato diossigenasi
epinefrina urinaria elevata
schiumose cellule negli organi viscerali e nel sistema nervoso centrale
emoglobinuria
profilo di tipo I della isoforma della transferrina
deficit di solfito ossidasi
prolungato tempo della tromboplastina parziale
bicarbonaturia
difetto nel trasferimento dell'elettrone nella flavoproteina-Ubichinone ossidoriduttasi
latticaciduria
anomalia del metabolismo del glicoside
cellule schiuma
mioglobinuria ricorrente
metacromasia cellulare
ridotta attività di diidropirimidina deidrogenasi
ridotta attività della N-acetilglucosaminiltransferasi II
diminuito proteina beta-glucocerebrosidasi e attività
depositi osmiofilici granulari  nelle cellule
ipometioninemia
amiotrofia della muscolatura della pelvi
età di esordio
disordine progressivo
lenta progressione
rapidamente progressivo
ritmo della progressione
disturbo non progressivo
tasso di progressione variabile
grande naso a becco
fibre muscolari scheletriche nucleate centralmente
diminuita attività dell'ossidasi del citocromo c nel tessuto muscolare
delezioni multiple del DNA mitocondriale
debolezza muscolare degli arti
scapole alate
amiotrofia distale
debolezza dei muscoli prossimali ad esordio tardivo
epifisi assente della falange distale del quinto dito
amiotrofia scapoloperoneale
difficoltà a stare in piedi
amiotrofia generalizzata
debolezza dei muscoli prossimali
debolezza scapoloperonale
pseudoipertrofia del muscolo del polpaccio
crampi muscolari indotti da esercitazione
ipertrofia muscolare
necrosi di fibre muscolari
miopatia miofibrillare
aspetto muscoloso dalla nascita generalizzato
grasso sottocutaneo minimale
accumulo di muscolo
ipertrofia muscolare generalizzata
debolezza dei flessori del collo
atrofia muscolare cingolo-scapolare
muscoli sodi
Sindrome da dermatomiosite enterovirale
EMG: flussi miotonici
debolezza muscolare al quadricipite
ipertrofia della coscia
vacuoli autofagici
miopatia mitocondriale
mialgia indotta dall'esercizio
spasmi mioclonici
miotonia con fenomeno di warm-up
distrofia muscolare congenita
anticipazione genetica
anticipazione genetica con bias di anticipazione paterna
sporadica
debolezza muscolare alla cintura pelvica
aumentato faticabilità muscolare
debolezza episodica flaccido
fibre di tipo 1 relativamente più piccole di quelle di tipo 2
miopatia scheletrica
riduzione del tessuto adiposo sottocutaneo
ipoplasia dei vasi linfatici
contrazioni muscolari rapide rotazionali indotte da percussione
calcinosi
uterus didelphys
bruxismo
nevo
Neo
psoriasi
paralisi periodica
masse calcificate nella polpa dentaria
insufficienza renale allo stadio finale ad esordio adulto
pili torti
rami mandibolari brevi
intaglio antegoniale della mandibola
salivazione eccessiva
Scialorrea
habitus eunucoide
gambe ruotate
addotte esternamente
eccessiva modificazione del collagene di tipo I
diminuito acido omovanillico nel fluido cerebro-splinale
regioni quot;minicorequot; con fibre muscolari di tipo 1 e 2
miopatia minicore
depositi immunoreattivi alla proteina beta-amiloide
falange breve media del dito del piede
cresta iliaca irregolare
atrofia muscolare dei cingoli
corpi nemalinici
ritardo marcato nell'età ossea
anomalia muscolare legata alla disfunzione mitocondriale
predominanza di fibre muscolari di tipo 1
vacuoli orlati
tono muscolare anormale
quasi completa assenza di tessuto adiposo metabolicamente attivo
debolezza muscolare distale ad esordio tardivo
morte neonatale
variabilità fenotipica
morte nell'infanzia
natimortalità
espressività variabile
penetranza incompleta
penetranza età-dipendente
anomalia dei plateaux tibiali
plateaux tibiali carenti lateralmente
dislocazione della spalla
sublussazione della spalla
puntinata calcificazione della spalla
ossificazione dei tessuti molli attorno le spalle
anomalia che coinvolge le epifisi delgli arti superiori
ritardata ossificazione epifisaria dell'arto superiore
frammentata epifisi degli arti superiori
epifisi irregolare degli arti superiori
epifisi tonde degli arti superiori
epifisi piccole degli arti superiori
ampia piastre epifisarie degli arti superiori
metafisi degli arti superiori a coppa
metafisi allargate degli arti superiori
metafisi irregolare degli arti superiori
difetti litici nella metafisi degli arti superiori
bande trasversali densità normale nella metafisi degli arti superiori
sclerosi con striature trasversali nella metafisi degli arti superiori
sclerosi delle metafisi degli arti superiori
stimolato metafisi degli arti superiori
superiore arto metafisaria ampliamento
corticale diafisaria irregolarità degli arti superiori
ispessimento corticale diafisaria degli arti superiori
sclerosi diafisaria degli arti superiori
ampi diafisi degli arti superiori
assente Omero
omero Angulated
omero bifido
omero si inchinò
grossolane trabecole
irregolarità corticale
ispessimento corticale
assottigliamento corticale
omero stropicciata
omero deforme
esostosi
varo di Omero
litiche difetti
omero osteoporotico
ovale transradiancy
periosteal nuovo osso
pseudoartrosi
foci sclerotici dell'omero
sclerosi omerale
omero snello
omero conico
omero triangolare
omero Undermodeled
omero ampia
anomalia della testa omerale
appiattite la testa omerale
anomalia dei deltoide ischiatiche
prominente ischiatiche deltoide
anomalia dell'epifisi omerale
assente ossificazione o assenza dell'epifisi omerale
avanzata ossificazione dell'epifisi omerale
ritardata ossificazione epifisario omerale
appiattito epifisi omerale
irregolarità delle epifisi omerale
irregolare ossificazione dell'epifisi omerale
grande epifisi omerale
turno epifisi omerale
piccole epifisi omerale
calcificazione punteggiata dell'epifisi omerale
punteggiatura epifisi dell'omero
ampie epifisi omerale
epifisi ampie degli arti superiori
anomalia del piatto epifisario omerale
ampio piatto epifisario omerale
anomalia della metafisi omerale
angolo speroni
riassorbimento sottoperiosteo corticale
allargata metafisi omerale
metafisi omerale svasata
metafisi omerale sfilacciata
metafisi omerale irregolare
ossificazione irregolare della metafisi omerale
difetti litici della metafisi dell'omero
bande trasversali di densità normale
metafisi omerale a punta
metafisi omerale sclerotica
metafisi omerale sclerotica con strie longitudinali
metafisi omerale inclinata
metafisi omerale lateralmente inclinata
metafisi omerale a sperone
metafisi omerale quadrata
calcificazione punteggiata della metafisi omerale
anomalia della diafisi omerale
irregolarità corticale della diafisi omerale
ispessimento corticale della diafisi omerale
opacità tipo vetro smerigliato della diafisi omerale
difetti litici della diafisi omerale
nuovo osso periosteale
foci sclerotici della diafisi omerale
sclerosi della diafisi omerale
diafisi omerale esile
ampia diafisi omerale
sinostosi coinvolgente il gomito
sinostosi omeroulnare
osteoartrite del gomito
calcificazione puntinata del gomito
condromatosi sinoviale del gomito
anormalità degli spazi articolari del gomito
spazi articolari del gomito stretti
superfici articolari irregolari delle articolazione del gomito
anomalia delle epifisi del gomito
ritardata ossificazione epifisaria del gomito
epifisi irregolare del gomito
anomalia della metafisi del gomito
metafisi allargate
metafisi irregolari
foci sclerotici delle metafisi del gomito
assenza di ossificazione
ossa dell'avambraccio assenti
ossa dell'avambraccio ad angolo
aspetto 'osso in osso'
ossa dell'avambraccio piegate
ispessimento corticale delle ossa dell'avambraccio
fusione delle ossa dell'avambraccio
ossa dell'avambraccio deformi
esostosi delle ossa dell'avambraccio
ossa dell'avambraccio fratturate
difetti litici delle ossa dell'avambraccio
ossa osteoporotiche dell'avambraccio
pseudoartrosi delle ossa dell'avambraccio
foci sclerotici nelle ossa dell'avambraccio
ossa sclerotiche dell'avambraccio
ossa dell'avambraccio esili
ossa dell'avambraccio modellate
ossa dell'avambraccio larghe
articolazioni radioulnari ampie
radio assente
radio a forma di gallone
a forma di cono
radio ristretto
radio deforme
radio fratturato
difetti litici del radio
pseudoartrosi del radio
ampio radio
agenesia dell'ulna
ulna posteriormente slogata
esostosi dell'ulna
esostosi del radio
ulna fratturata
lunga ulna
ulna dentellata
ulna appuntita
osteosclerosi dell'ulna
ulna esile
ulna larga
dislocazioni dei polsi
anomalia della testa radiale
testa radiale appiattita
testa radiale ipoplastica
ristretto collo radiale
anomalia dell'epifisi radiale
epifisi radiale a  forma di cono
a forma di gallone
epifisi radiale carente a livello mediale
epifisi radiale appiattita
epifisi radiale medialmente appiattita
irregolarità delle epifisi radiale
grande epifisi radiale
epifisi radiale arrotondata
epifisi radiali sclerotiche
epifisi radiali inclinate
epifisi radiali inclinate medialmente
epifisi radiali inclinate medialmente
fusione prematura delle piastre epifisarie radiali
piastre radiali epifisarie fuse a livello mediale
piastra epifisaria radiale larga
anomalia della metafisi radiale
metafisi radiale a coppa
esostosi della metafisi radiale
metafisi radiale allargata
irregolare metafisi radiale
irregolare ossificazione delle metafisi radiale
difetti litici della metafisi radiale
metafisi sclerotiche radiali con strie longitudinali
pendenza metafisi radiale
metafisi radiale inclinata medialmente
metafisi radiale a sperone
ampia metafisi radiale
anomalia della diafisi radiale
speroni della diafisi radiale
difetti litici della diafisi radiale
sclerosi irregolari della diafisi radiale
ampia diafisi radiale
anomalia dell'olecrano
olecrano curvo
olecrano irregolare
anomalia del processo stiloideo
processo stiloideo lungo
anomalia dell'epifisi ulnare
spicole ossea della piastra epifisaria ulnare
anomalia della metafisi ulnare
frammenti degli spigoli della metafisi ulnare
metafisi ulnare a coppa
irregolare metafisi ulnare
difetti litici della metafisi ulnare
metafisi ulnare a punta
metafisi ulnare inclinata
metafisi ulnare a sperone
ampia metafisi ulnare
spazi articolari del polso stretti
angoli carpali ridotti del polso
mano assente
avanzata ossificazione delle ossa della mano
ritardata ossificazione delle ossa della mano
maturazione disarmonica delle ossa della mano
sclerosi delle ossa della mano
deformità di Mitten
monodattilia
deficienza longitudinale radiale
anomalia di Trident
dita curve
deviazione del dito
macrodattilia
anomalia del secondo dito
solco nasale sulla linea mediana
difetti della linea mediana del naso
fossetta sulla punta del naso
anomalia del terzo dito
anomalia della falange media del terzo dito
falange breve distale del terzo dito
anomalia del quarto dito
difetti osteolitici delle falangi medie del quarto dito
sinfalangismo del quarto dito
anomalia del quinto dito
clinodattilia del quinto dito
anomalia delle falangi del quinto dito
falangi curve del quinto dito
difetti osteolitici delle falangi del quinto dito
sinfalangismo del quinto dito
anomalia della falange media del quinto dito
falange breve media del quinto dito
epifisi a cono della falange distale del quinto dito
epifisi di avorio della falange distale del quinto dito
anomalia dell'epifisi della falange media del quinto dito
anomalia della falange distale del quinto dito
falange curva distale del quinto dito
falange breve distale del quinto dito
sublussazione dell'articolazione interfalangea prossimale del mignolo
aplasia dell'osso carpale
ossa carpali accessorio
avanzata ossificazione delle ossa del carpo
aspetto 'osso-in-osso' delle ossa carpali
ossa carpali a forma di virgola
ossa carpali irregolari
grandi ossa carpali
difetti litici delle ossa carpali
ossa carpali posizionate prossimalmente
foci sclerotici all'interno ossa carpali
calcificazione punteggiata nelle ossa carpali
ampie ossa carpali
anomalia dello scafoide
scafoide accessorio
scafoide a forma di virgola
ritardo di ossificazione dello scafoide
scafoide piccolo
anomalia dell'osso lunato
lunato accessorio
semilunare posizionato prossimalmente
fusione lunato-triquetrale
anomalia del trapezio
trapezio assente
assente ossificazione del trapezio
ritardata ossificazione del trapezio
trapezio piccolo
anomalia dell'osso trapezio
ritardata ossificazione dell'osso trapezio
osso trapezoide piccolo
anomalia dell'osso amato
osso amato grande
osso amato ampio
anomalia dell'osso capitato
grande osso capitato
articolazioni strette del carpo
articolazioni piccole della mano strette
artrosi delle piccole articolazioni della mano
sublussazione delle piccole articolazioni della mano
ispessimento corticale delle ossa della mano
assottigliamento corticale delle ossa della mano
metafisi delle ossa della mano a coppa
deficiente ossificazione delle ossa della mano
duplicazione delle ossa della mano
esostosi delle ossa della mano
ossa fratturate della mano
sinostosi che coinvolge le ossa della mano
palmo breve
ossificazione irregolare delle ossa della mano
sclerosi irregolare delle ossa della mano
palmo stretto
ossa della mano incise
ossa della mano over-modellate
sclerosi irregolare delle ossa della mano
ossa mano a punta
pseudoepifisi delle ossa della mano
foci sclerotici nelle ossa della mano
sclerosi della mano ossa con striature trasversali
calcificazione puntinata delle ossa della mano
ossa della mano sotto-modellate
sinostosi del secondo metacarpale-trapezio
sublussazione delle articolazioni delle falangi metacarpali
anomalia della mucosa gastrica
anomalia della vascolatura gastrointestinale
anomalia del sistema biliare
anomalia della parete addominale
ernia della parete addominale
problemi funzionali motori
anomalia delle fibre muscolari
movimenti involontari
anomalia dell'endocardio
anomala posizione anatomica del cuore
aritmia ventricolare
preeccitazione ventricolare
anomalia dei macrofagi
anomalia dei reticolociti
ipogammaglobulinemia
deficit di IgG
ipoaldosteronismo
fistola vaginale
fistola vescicale
bassa statura
anomalia del peso corporeo
aumento di peso corporeo
diminuzione di peso corporeo
cachessia
anomalia dell'umor vitreo
anomalia del segmento anteriore dell'occhio
anomalia del segmento posteriore dell'occhio
aumentata ossificazione del cranio
diminuita ossificazione del cranio
anomalia dei linfociti
cellule a schiuma nel midollo osseo
atrofia cutanea
outfolding della mielina
anomalia del metabolismo degli aminoacidi
anomalia del metabolismo della famiglia degli aminoacidi aromatici
anomalia del metabolismo degli aminoacidi solforati
anomalia del metabolismo della vitamina B
anomalia del metabolismo vitamina B12
anomalia del metabolismo del galattoside
anomalia del metabolismo del glicosfingolipidi
anomalia del metabolismo della cerebrosidasi
anomalia del metabolismo del ganglioside
debolezza dei muscoli della respirazione
anomalia della densità minerale ossea
densità minerale ossea ridotta
anomalia del metabolismo della purina
anomalia del metabolismo della pirimidina
anomalia del metabolismo dell'acido carbossilico
anomalia del metabolismo dei proteoglicani
anomalia del metabolismo lisosomiale
anomalia del metabolismo della leucina
anomalia del metabolismo del superossido
anomalia del metabolismo degli acidi grassi
anomalia dell'omeostasi acido-base
anomalia del livello di leptina in circolazione
anomalia dei gangli enterici
anomalia dell'omeostasi del calcio
anomalia dell'omeostasi dei composti azotati
anomalia del metabolismo del triptofano
anomalia della glicolisi
anomalia del metabolismo delle glicoproteine
aumentati livelli di purine
diminuiti livelli di purine
anomalia della regolazione della temperatura
anomalia del metabolismo di glicosaminoglicani
ridotta coscienza
confusione
distonia focale
emiplegia
emiparesi
neoplasia del sistema nervoso
tumori neuroblastici
neoplasma ematologico
anomalia dell'ano
anomalia dell'attività della fosfatasi alcalina
calcificazione della valvola aortica
stenosi sopravalvolare dell'aorta
calcificazione della valvola mitrale
cuore sinistro ipoplastico
tipo I tronco arterioso
diarrea protratta
infiammazione gastrointestinale
enterocolite
microcolon
pseudo-ostruzione intestinale
polipi amartomatosi
pancia prona
polipi gastrici multipli
malnutrizione
scarso appetito
ano ectopico
ulcera peptica
atresia pilorica congenita
anomalia del piloro
ileo da meconio
atresia esofagea prossimale
anomalia del capezzolo
capezzoli prominenti
epistassi ricorrenti e spontanee
bozze ossee paranasali
anomalia del senso dell'olfatto
iposmia
setto nasale deviato
anomalia dell'arteria polmonare
stenosi dell'arteria polmonare
aterosclerosi precoce
claudicatio intermittens
tromboflebite
tromboflebite ricorrente
trombosi arteriosa
elevata pressione arteriosa sistolica
restringimento biparietale
cranio bifido occulto
fronte piatta
anomalia delle guance
facies elfica
infezioni virali ricorrenti
immunodeficienza combinata grave
deficit di complemento
agammaglobulinemia
Agammaglobulinemia legata al sesso
deficit di IgA secretorie
deficit di C8
iperostosi cranica
iperostosi frontale interna
disostosi craniofacciale
craniosinostosi coronale
craniostenosi sagittale
craniosinostosi lambdoidale
sferocitosi
ellissocitosi
stomatocitosi
poichilocitosi
guasto epatico fulminante
solco preauricolare della pelle
modifica della pelle postauricolare
anomalia degli ossicini dell'orecchio medio
overfolding delle eliche superiori
riflessi anormali dell'orecchio medio
canale uditivo interno dilatato
esostosi del canale uditivo esterno
seni congeniti del lobo dell'orecchio
risposte uditive assenti del tronco cerebrale
fossa auricolare posteriore
prolungato i potenziali evocati uditivi del tronco cerebrale
fossa preauricolare
cartilagine tracheale anomala
bronchite cronica
cefalocele atretico occipitale
aplasia congenita della cute  del cuoio capelluto
iperostosi mandibolare
fontanella anteriore persistentemente aperta
aplasia congenita della cute sulla zona parietale
encefalocele etmoidale
macrocefalia progressiva
macrocefalia relativa
asimmetria craniofacciale
cessazione della crescita della testa
acrobrachicefalia
macrocefalia alla nascita
iperostosi calvariale
grande fontanella posteriore
fontanelle e suture largamente doloranti
iperostosi cranio-faciale
narici sottili invertiti
atresia coanale posteriore
rinite cronica a causa delle vie aeree nasali strette
atresia bilaterale coanale
ipertrofia delle cellule dell'isolotto pancreatico
sopracciglia lunghe
ipotricosi temporale
grandi ciuffi di pigmento irregolarmente distribuiti lungo il fusto del capello
ipotricosi generalizzata
alopecia atrofica irregolare
ipertricosi sacrale
ipertricosi cervicale anteriore
ipertricosi congenita generalizzata
Ipertricosi
attaccatura dei capelli frontale appuntita
cicatrici di alopecia del cuoio capelluto
ipertricosi generalizzata
fusione vertebrale anteriore
platispondilia cervicale
beaking' dei corpi vertebrali T12-L3
aumentata densità ossea spinale
grave platispondilia
vertebre a forma di pera
beaking' dei corpi vertebrali
aumentata altezza vertebrale
allargamento del canale spinale cervicale
incuneamento anteriore del T11
fusione delle faccette articolari mediali cervicali
piastre laterali vertebrali sclerotiche
smerlatura anteriore dei corpi vertebrali
aumentata altezza vertebrale anteriore
irregolarità dei corpi vertebrali
corpi vertebrali biconcavi
displasia della seconda vertebra lombare
sacrum ipoplastico
corpi vertebrali come dischi
platispondilia toracica
tumulo a forma di gobba di osso in porzioni centrale e posteriore delle piastre vertebrali
centri di ossificazione vertebrale soprannumerari
corpi vertebrali assenti o minimamente ossificati
spina bifida occulta a L5
fusione vertebrale cervicale
Sindrome di klippel-feil
piastre laterali del corpo vertebrale iperconvesse
assente mineralizzazione del corpo vertebrale
corpi vertebrali non ossificati
beaking' anteriore delle vertebre toraciche più basse
processo odontoide collocato anteriormente
distorsione irregolare delle vertebre
stenosi del canale spinale lombare
concavità anteriore delle vertebre toraciche
spina bifida occulta a S1
schisi degl archi vertebrali
arco vertebrale a farfalla
aspetto a sandwich dei corpi vertebrali
cifoscoliosi lombare
peduncoli vertebrali allargati
progressivo restringimento dello spazio intervertebrale
corpi vertebrali biconvessi
scoliosi lombare
piccoli corpi vertebrali cervicali
beaking' anteriore delle vertebre toraciche
diminuzione della flessione del rachide cervicale a causa di contratture dei muscoli cervicali posteriori
difetti di segmentazione cervicale
cifosi toracica inferiore
corpi vertebrali a forma cuboide
fusione di vertebre cervicali
ridotta mobilità del rachide cervicale
elevata alfa-fetoproteina nel fluido amniotico
ipoplasia dell'osso nasale
ipoplasia della muscolatura facciale
debolezza del muscolo Frontalis
emangioma della linea mediana facciale
diminuita espressione facciale
arcate sopraorbitali prominenti nell'adulto
grandi ossa tarsali
profonda piega plantare longitudinale
valgo talipes
breve terzo metatarso
ossa tarsali irregolari
quarto metatarso breve
ispessimento del tendine d'Achille
sindattilia secondo-terzo dito
sindattilia quarto-quinto dito
punteggiatura epifisaria del calcagno
talipes equinovarus cavus
osso osteoporotico metatarsale
breve quinto metatarso
malrotazione renale
insufficienza renale reversibile
malrotazione assiale del rene
reni iperecogeni
ispessimento della membrana basale glomerulare
nefrolitiasi calcica
ridotta capacità di concentrazione renale
nefrite tubulointerstiziale acuta
alterata clearance renale di acido urico
microcisti corticale renale
ectopia renale fusa incrociata
glomerulosclerosi globale
anomalia del sistema di raccolta renale
nefrite tubulointerstiziale cronica
glomerulonefrite membranoproliferativa, tipo II
flutter atriale
tachicardia ventricolare parossistica
dissociazione atrioventricolare congenito
fibrillazione atriale permanente
tachicardia sopraventricolare
tachicardia ventricolare
fibrillazione atriale parossistica
tachicardie ventricolari polimorfiche indotta da sforzo
malattia della valvola aortica calcificante nodulare
difetto congenito del setto
restenosi post-angioplastica coronarica
ipoplasia del ventricolo destro
tachicardia sopraventriculare episodica
degenerazione mixomatosa della valvola mitrale
capelli radi del cuoio capelluto anteriore
ingrigimento prematuro del corpo dei capelli
capelli fragili
ipertricosi del gomito
ipotricosi del cuoio capelluto
poliposi duodenale
poliposi gastrointestinale giovanile
malrotazione del colon
diverticoli scarsi
epatite fulminante
linfedema intestinale
intolleranza al lattosio
ipoplasia dell'intestino tenue
ulcerazione esofagea
fistola rettoperineale
malrotazione dell'intestino tenue
polipi amartomatosi dello stomaco
ostruzione gastrointestinale
atresie multiple delle piccole viscere
infezione ricorrente del tratto gastrointestinale
diverticoli digiuno-ileali
diverticoli duodenali
anemia emolitica episodica
anemia emolitica congenita
leucemia mielogeno acuta familiare
trombocitopenia neonatale alloimmune
anemia ipoplastica congenita
leucemia linfoblastica acuta a cellule Pre-B
trombocitopenia post-trasfusionale
Porpora post-trasfusionale
anemia emolitica indotta da fave
anemia emolitica droga-sensibile
emoglobinuria parossistica notturna
anemia ipoplastica normocitica
leucemia acuta mielomonocitica
ipersegmentazione dei nuclei dei neutrofili
ellissocitosi atipica
anisopoichilocitosi
aumentata affinità dell'emoglobina all'ossigeno
anemia megaloblastica folato-insensibile
anemia refrattaria con sideroblasti ad anello
tromboembolia ricorrente
microsferocitosi
leucemia promielocitica acuta
piropoichilocitosi
anemia microcitica ipocromica
ridotta attività del fattore XII
Fattore xii
anemia emolitica coombs-positiva
leucemia monocitica acuta
sanguinamento prolungato dopo chirurgia
leucemia linfoblastica acuta Ph-positiva
trombosi venosa profonda ricorrente
anemia megaloblastica folato-responsiva
ridotta la fosfatasi alcalina leucocitaria
trombocitopenia intermittente
ridotta attività della proteina S
Deficit di proteina s
anemia microcitica normocromica
anemia macrocitica ipercromico
trombocitopenia amegacariocitica
anemia megaloblastica responsiva alla tiamina
anemia macrocitica refrattaria
anemia emolitica compensata
anemia sideroblastica refrattaria
ridotta aggregazione piastrinica indotta da ADP
anemia emolitica cronica
fistola perineale
ernia incisionale
stridore inspiratorio neonatale
pneumotorace spontaneo neonatale
insufficienza respiratoria a causa del coinvolgimento del diaframma e del muscolo intercostale
iperventilazione intermittente
infezioni respiratorie nei primi anni di vita
ipoventilazione episodica
afflizione respiratoria episodica
stridore laringeo congenito
insufficienza respiratoria che necessitano di ventilazione assistita
intermittenti episodi di insufficienza respiratoria secondaria a debolezza muscolare
elevata pressione dell'arteria polmonare
infezioni ricorrenti a causa di aspirazione
stenosi laringotracheale
acidosi lattica indotto dallo stress
infezione
acidosi lattica persistente
acidosi lattica severa
acidemia lattica indotta dall'esercizio
acidosi lattica congenita
diabete di inizio di maturità dei giovani
Mody
deficit di vitamina A
disidratazione ipernatremica
alcalosi metabolica ipokaliemica ipochloremic
acidosi renale tubulare da consumo di bicarbonato
acidosi metabolica episodica
rachitismo ipofosfatemico
intermittente acidemia lattica
ipoglicemia ricorrente infantile
compromissione del metabolismo del galattosio
acidosi tubulare distale generalizzata
acidosi metabolica ipercloremica
intolleranza al galattosio
acidemia da fenilpiruvato
anomalia dell'omeostasi del magnesio
iperfenilalaninemia atipica
iperfenilalaninemia
tolleranza anormale al glucosio orale
acidosi lattica cronica
ipotensione ortostatica dovuto a disfunzione autonomica
dilatazione dell'arteria polmonare
stenosi arteriosa periferica
aterosclerosi coronaria
anomalia della vascolatura polmonare
arteriosclerosi delle piccole arterie cerebrali
ascendente dissezione aortica
calcificazione vascolare
atresia dell'arteria polmonare
trombosi venosa
aneurisma dell'arteria polmonare
arterie cerebrali tortuose
calcificazione arteriosa generalizzata
ipertensione portale extraepatica
aneurisma aortico
accelerata aterosclerosi
aneurisma cerebrale
dissezione dell'arteria carotidea interna extracraniale
fistola arterovenosa
tortuosità vascolare
arteriopatia periferica
fistole arterovenose polmonari
aneurisma dell'aorta addominale
discendente di aneurisma aortico
tortuosità generalizzata delle arterie
dilatazione dell'aorta toracica discendente
agenesia dell'arteria polmonare
fasciatura dell'arteria polmonare
calcificazione aorta toracica
calcificazioni dell'aorta
ipertrofia mediale arteriosa polmonare
calcificazione mediale di medie e grandi arterie
emorragia cerebrale ricorrente
stenosi periferica dell'arteria polmonare
crescente dilatazione aortica
ipoplasia dell'arteria polmonare
elevata pressione arteriosa media
coartazione dell'aorta addominale
deformità a fiasca dei femori
dislocazione del ginocchio
aplasia radiale bilaterale
sclerosi metafisaria
rarefazione metafisaria
processo stiloideo ulna prominente
accorciamento gamba mesomelica
striature epifisarie
accorciamento del braccio rizomelico
ossa lunghe snelle con strette diafisi
ossificazione multicentrica delle epifisi dell'omero prossimale
lussazione ricorrente della rotula
aplasia
ipoplasia dell'epifisi femorale capitale
epifisi radiale prossimale appiattite
piega femorale presente alla nascita, che si raddrizza col tempo
slogatura delle grandi articolazioni
omero a forma di manubrio
osteomielite che conduce all'amputazione a causa di fratture a lenta guarigione
braccio mesomelico accorciamento
epifisi radiale distale displastiche
condrocalcinosi poliarticolare
ispessimento della diafisi
slogature bilaterali del gomito
omero distale ipoplastico
accorciamento dell'arto mesomelico
rizomelico
metafisi tibiale prossimale allargata
ipoplasia dell'ulna distale
accorciamento di tutte le falangi delle dita
ipoplasia unilaterale dell'ulna
sinostosi radio-ulnare prossimale
esostosi multiple delle ossa lunghe
epifisi femorale capitale irregolari
metafisi irregolari, tipo rachitiche
metafisi irregolari dell'omero prossimale
sclerosi corticale diafisaria
sinostosi delle ossa carpali
dislocazione anterolaterale della testa radiale
speroni metafisari
artralgia
artrite
flessione
estensione del gomito limitata
epifisi frammentate, irregolare
epifisi a cono fuse all'interno delle loro metafisi
crescita eccessiva prossimale fibulare
processi stiloidei assenti
accorciamento rizo-meso-acromelico dell'arto
lussazione testa radiale prossimale
iperlassità a polsi
lussazione anteriore della testa radiale
limitata flessione
estensione del ginocchio
osteoartrite del ginocchio
trabecolazione metafisaria anomala
incurvamento laterale del ginocchio
sclerosi metafisaria a strisce
epifisi assente radiale prossimale
incurvamento distale
grave idrope fetale
parto prematuro, a seguito di rottura prematura delle membrane fetali
indebolimento dell'udito ad alta frequenza
degenerazione cocleare
ossificazione cartilagineq di padiglioni auricolari
ipoplasia del setto nasale
anomala morfologia nasale
anomalia delle piastre laterali vertebrali
anomalia del wacro
anomalia del disco intervertebrale
anomalia del tendine d'qchille
fibrillazione atriale
dilatazione dell'aorta ascendente
dilatazione dell'aorta addominale
dilatazione dell'arco aortico
anomalie delle arterie periferiche
aritmia sopraventricolare
tortuosità delle arterie
elevata pressione diastolica
anomalia dell'atrio cardiaco
smerlatura posteriore dei corpi vertebrali
ipertrofia congenita del ventricolo sinistro
insufficienza cardiaca restrittiva
costrizione pericardica
dilatazione ventricolare di destra
assenza della valvola polmonare
EKG: anomalie ell'onda T
prematura calcificazione dell'anello mitrale
episodi di tachicardia ventricolare
origine anomala dell'arteria polmonare destra da aorta ascendente
ipertrofia settale ventricolare di sinistra
stenosi dell'arteria coronarica
calcificazione della valvola cardiaca
ectopia ventricolare bidirezionale
difetti della valvola polmonare
anomala conduzione atrioventricolare
preductal coartazione dell'aorta
cardiomiopatia oncocitica
ritmi di fuga ventricolare
atrio sinistro ipoplastico
cardiomiopatia ipertrofica concentrica
ritorno venoso polmonare totale anomalo
alterata funzione ventricolare sinistra
valvola polmonare displastica
intervallo PR accorciato
elevata pressione atriale destra
blocco del cuore completo con ampi complessi RS
blocco fascicolare posteriore sinistro
stenosi della valvola aortica calcificante
stenosi aortica subvalvolare membranosa
valvola aortica displastica
arteriosclerosi prematura
blocco completo del cuore con i complessi QRS stretti
rigurgito della tricuspide
malattia coronarica prematura
bicuspidia della valvola polmonare
linfangiectasia pericardica
prolungato intervallo QTc
disfunzione sistolica globale
ipertrofia sinoviale
progressiva distruzione articolare
iperlassità dell'articolazione del dito prossimale
lussazione congenita del ginocchio
movimento grande dell'articolazione limitato
teste metatarsali appiattite
artropatia poliarticolare
generalizzata rigidità mattutina
rigida articolazioni interfalangee
aplasia della muscolatura della parete addominale
fibrosi retroperitoneale
sistema venoso anomalo splenoportal
infezione da Helicobacter pylori
perforazione esofagea spontanea
Sindrome di boerhaave
pseudocisti pancreatica
ipertrofia gastrica
diarrea secretiva
cisti dei dotti biliari intraepatici
colon ipoplastico
malrotazione delle viscere mediali
leucoplasia della mucosa anale
calcificazione pancreatica
ostruzione intestinale
frequente infestazione di Giardia lamblia
difficoltà di masticazione
duplicazione degli organi interni
fistola anoperineale
assenza del fattore intrinseco
neurofibromatosi intestinale multipla
diverticolosi intestinale
colon duplicato
ascesso rettale
edema intestinale
poliposi adenomatosa familiare colica
ulcerazione digiunoileale
ostruzione del tratto biliare
gastrite cronica
displasia pancreatica
ipoplasia della cistifellea
ostruzione intestinale neonatale
atresia digiunale
calcificazione pancreatite cronica
malattia degenerativa del fegato
polipi intestinali discreti
ostruzione esofagea
totale aganglionosi intestinale
atresia del dotto biliare extraepatico
Atresia biliare
agenesia parziale del muscolo addominale
infarti gastrointestinali
ipoplasia intestinale
gastrite ipertrofica gigante
ipoplasia della muscolatura della parete addominale
atresia biliare intraepatica
ostruzione intestinale funzionale
ostruzione intestinale alta
diametro maggiore anteroposteriore del torace
ipoplasia unilaterale del petto
assenza del muscolo pettorale minore
assenza unilaterale del muscolo pettorale
ipoplasia toracica
ipoplasia
aplasia del muscolo pettorale
facilità anormale nell'opporre le spalle
emorragia da articolazioni
Emartro
anomalia della sinovia
gastrite
anomalia della colecisti
anomalia del digiuno
polipi intestinali
parto prematuro a causa della fragilità della membrana o insufficienza cervicale
aborto spontaneo
piega naso-labiale prominente
cartilagine del setto nasale assente
punta del naso prominente
ossificazione cartilaginea del naso
punta del naso ipoplastica
ponte nasale depresso
ipoplasia nasale
ponte nasale assente
anomalia delle narici
anomalia della regione naso-labiali
ipoplasia dell'arteria carotidea interna
arteriopatia infiammatoria
ispessimento intimo nelle arterie coronarie
insufficienza venosa
dissezione arteriosa
pseudocoartazione dell'aorta
malattia vascolare occlusiva
malattia vascolare occlusiva prematura
difetto del canale atrioventricolare con aorta da ventricolo destro e atresia polmonare
malattia vascolare periferica precoce
vasculite infiammatoria nodulare
vena cava superiore sinistra persistente
tortuosità dell'arteria carotidea
calcificazione dell'arco aortico
ipoplasia delle vene polmonari
trombosi venosa cerebrale
Trombosi
emangiomi capillari
Emangioma capillare
ipotensione posturale con tachicardia compensatoria
vasocostrizione dell'arteria polmonare
insufficienza vascolare periferica
vasculite dei grandi vasi
agenesia dei vasi polmonari
fibrosi intimale polmonare ateriale
displasia fibromuscolare arteriosa
rami anomali dell'arteria carotidea interna
arteriopatia obliterante
aplasia dei vasi polmonari periferici
aumentata resistenza vascolare polmonare
vasculite cerebrale
mancanza di grasso sottocutaneo facciale
disostosi mandibolofacciale
setto nasale prominente
ipertrofia emifacciale
disturbo dell'espressione del viso
estensione della crescita dei capelli dalle tempie al sopracciglio laterale
filtro ipoplastico
perdita di espressione del viso
viso dall'aspetto progeroide
espressione facciale fissa
sublussazioni mandibolari ricorrenti
espressione del viso assonnato
iperpigmentazione della fronte
sopracciglio laterale Sparse
anomalia del sistema del complemento
vescica spastica
iperattiva
disfunzione autonomica della vescica
ipoplasia della vescica
anomalia delle arterie carotidee
anomalia della vena cava
anormale espressione facciale
trachea cartilaginosa
stridore inspiratorio
ipoplasia del epiglottide
immunodeficienza severa delle cellule T
suscettibilità all' herpesvirus
immunità cellulare assente
diminuzione del fattore I del complemento nel siero
differenziazione delle cellule di B difettoso
aplasia del timo
suscettibilità alla varicella
parziale immunodeficienza umorale
gravi infezioni virali
linfopenia severa B
infezioni ricorrenti streptococco pneumoniae
anomalia dell'immunità umorale
diminuzione del fattore H del complemento del siero
anomalia della fisiologia delle cellule B
immunodeficenza cellulare
parziale immunodeficenza cellulare
infezioni ricorrenti da Haemophilus influenzae
T-linfopenia severa
malattia meningococcica ricorrente
attivazione difettosa delle cellule B
ricorrenti infezioni da protozoi
immunodeficienza combinata
esaurimento delle componenti della via alternativa del complemento
ricorrenti infezioni opportunistiche
suscettibilità ai coronavirus 229e
processi immunitari cellulari esagerati
riduzione della motilità dei neutrofili
infezioni da candida ricorrente
anomalie immunitarie primarie del T-linfocita
linfocitopenia T
aumento del numero delle cellule B
infezioni batteriche ricorrenti della pelle
diminuito numero di cellule T CD4 +
funzione delle cellule T marcatamente ridotta
candidosi intestinale cronica
alfa-globulina aumentata
diminuito il numero di cellule T CD8 +
livello diminuito del fattore B di complemento nel siero
diminuita attivazione delle cellule T
ricorrenti infezioni da batteri gram-negativi
livello diminuito del fattore C3 di complemento nel siero
assenza di cellule T CD8 +
via metabolica del complemento alternativa disfunzionale
risposta anticorpale specifica assente
ricorrenti infezioni sinopolmonari
varicella ricorrente grave
infezioni sistemiche piogeniche ricorrenti
infezioni ricorrenti da Neisseria
ipogammaglobulinemia transitoria dell'infanzia
alterata funzione delle cellule T
infezioni ricorrenti nell'infanzia e nella prima infanzia
ipoplasia maxillozigomatica
suture craniche sclerotiche
sutura coronale dolorante
fossa posteriore allargata
angolo ottuso della mandibola
sella turcica a ponte
osteosclerosi calvariale
ridotta ossificazione cranica di base
agenesia
ipoplasia dei seni paranasali
seni etmoidale assenti
chiusura prematura delle fontanelle
sproporzione cranio-faciale
calcificazione del falx cerebri
sella turcica di forma allungata
osteosclerosi cranio-faciale
iperostosi facciale
ipoplasia dell'osso frontale
occipite piatto
craniostenosi orbitale
fusione degli ossicini dell'orecchio medio
ossificazione della volta cranica diminuita
sutura sagittale dolorante
sclerosi progressiva della base del cranio
seni frontali prominenti
deficit di IgE
anomalia della via alternativa del complemento
anomalia dell'epiglottide
microcefalia postnatale
piccole fontanelle
cresta metopica prominente
macrocefalia postnatale
chiusura precoce fontanella posteriore
sutura metopica dolorante alla radice del naso
fossette cutanee sulla linea mediana sopra fontanelle anteriori
posteriori
aumento della fragilità osmotica delle cellule rosse
anemia refrattaria
leucemia mielogena cronica
emoglobina di Barts
macroglobulinemia di Waldenstrom
eritroblastopenia transitoria
anemia da corpo di Heinz
alterata rimozione di stafilococchi da parte dei neutrofili
aumentato numero dei megacariociti
linfoma
leucemia a cellule T
macrocitosi eritrocitaria
coagulazione intravascolare disseminata cronica
coagulazione intravascolare disseminata
anemia sideroblastica sensibile a piridossina
disordine linfoproliferative
malattia emolitica macrocitica
crisi emolitiche spontanee
leucemia linfoide
ridotta attività chininogeno
ipocellularità del midollo osseo
leucemia acuta bifenotipica
anemia macrocitica diseritropoietica
sindrome mieloproliferativa transitoria
emolisi indotta dall'esercizio
diminuzione delle piastrine di medio volume
linfoma
leucemia linfocitaria cronica delle cellule T
keratocitosi dei globuli rossi
agranulocitosi congenita
tempo prolungato di coagulazione di sangue intero
ridotta attività della proteina C
Deficit di proteina c
maggiore resistenza osmotica eritrocitaria
disordine mieloproliferativo
megacariocitopenia
neutropenia congenita
leucemia linfatica cronica
anomalia della sutura metopica
anomalia dell'arco zigomatico
leucemia cronica
anomalia del sistema chinina-callicreina
sintesi dell'emoglobina squilibrata
anomalia della morfologia delle cellule del midollo osseo
Ematologia
cisti renali multiple
diminuito numero di glomeruli
assenza di differenziazione corticomedullare renale
ridotto differenziamento corticomedullare renale
spreco di magnesio renale
aumentato riassorbimento tubulare renale del fosfato
diminuita escrezione renale del fosfato tubolare
tubulopatia prossimale non-acidotica
sindrome emolitico-uremica
fibrosi tubulointerstiziale
alterato riassorbimento del cloruro
duplicazione della pelvi renale
disintegrazione della membrana basale tubulare
carcinoma a cellule renali
iperpigmentazione a macchie
iperpigmentazione nelle zone esposte al sole
lesioni cutanee profuse pigmentate
cheratoderma palmoplantare a chiazze
ipopigmentazione a chiazze
melanosomi giganti nei melanociti
verticilli, striature e chiazze ipopigmentate
ipercheratosi generalizzata
alopecia totale congenita
telangiectasia facciale nella porzione mediale
ipopigmentazione dei capelli
nevo melanocitico gigante congenito
vitiligine progressiva
numerosi i nei melanocitici congeniti
macule cafe-au-lait grandi con margini irregolari
nevi e strisce iperpigmentati
anomalia del sistema tracheo-bronchiale
cistifellea bilobata
disfunzione della cistifellea
anomalia mano artrogriposi-simile
aplasia
ipoplasia del femore
accelerata maturazione scheletrica
camptodattilia bilaterale
cifosi toraco-lombare
ipermobilità delle articolazioni interfalangee
trapezoidale a forma di corpi vertebrali
ossa lunghe larghe
ossificazione assente della calvaria
osteoporosi delle vertebre
fusione posteriore delle vertebre lombosacrali
brachidattilia tipo D
Brachidattilia
avambraccio assente
diametro anteroposteriore diminuito dei corpi vertebrali lombari
iperestensibilità delle articolazioni della mano
segmentazione vertebrale anormale e fusione
terzo dito del piede breve
calcificazione del disco intervertebrale
ipoplasia ulnare bilaterale
sindattilia cutanea tra 2° e 5° dito
sclerosi corticale
moderata generalizzata osteoporosi
esostosi multiple alle dita
deformità posizionali del piede
cifoscoliosi toracica
osteomielite da Salmonella
cortecce delle ossa lunghe massicciamente ispessite
Os odontoideum
calcificazioni intracraniche bilaterali
polidattilia rudimentale postassiale delle mani
dislocazione atlanto-occipitale anteriore
contrattura di Dupuytren
deformità vertebrali lombari tipo linguette
artrite reumatoide giovanile
sinostosi talocalcaneali
artrogriposi distale
osteosclerosi irregolare
testa omerale deforme
falangi distali displastiche del pollice con un foro centrale
creste dei dermatoglifi anomali
iperflessibilità delle articolazioni
fusione parziale della fila prossimale delle ossa carpali
polidattilia postassiale di tipo A
densità aumentata dell'osso con cambiamenti cistici
encondromatosi multipla
pollice trifalangeo bilaterale
sindattilia cutanea de secondo e terzo dito
epifisi del ginocchio appiattite
displasia scheletrica letale
accorciamento di tutte le ossa metacarpali
iperestensibilità del pollice
sella turcica a forma di scarpa
pollice trifalangeo nonopponibile
pollici ipoplastici con punte bulbose
irregolarità corticale
stenosi spinale con ridotta distanza interpedicolare
tibia ipoplastica
sublussazione posteriore della testa radiale
necrosi avascolare dell'epifisi femorale capitale
Malattia di legg-calvé-perthes
osteoporosi generalizzata con fratture patologiche
contratture congenite del piede
osteosclerosi della calvaria e della base del cranio
primi articolazioni metacarpofalangee facilmente sublussate
contratture delle articolazioni degli arti inferiori
vertebre deformate moderatamente appiattite
punteggiatura epifisaria neonatale
impressione basilare
fossa posteriore piccola e piatta
poliarticolare artrite
meningocele sacrale
accorciamento sproporzionato della tibia
sindattilia cutanea completa 1°-2°  dito del piede
sindattilia cutanea 2°-4° dito del piede
clinodattilia della falange distale del quinto dito
aplasia
ipoplasia della tibia
avambraccio corto
anomalie scheletriche multiple
malsegmentazione dell'osso carpale
piega interfalangea distale del quarto dito assente
contratture delle grandi articolazioni
platispondilia lombare
mielogramma cervicale anormale
osteosclerosi generalizzata
condili mandibolari brevi
ispessimento corticale della diafisi delle ossa lunghe
omero corto
accorciamento di tutte le falangi distali delle dita
arteriopatia delle gambe
dislocazione della testa radiale posteriore
coalescenza delle ossa tarsali
assenza delle falangi distali
costole soprannumerarie
polisindattilia postassiale del piede
falange breve media del dito
Brachidattilia
anomalie della costola superiore
clinodattilia del secondo dito del piede
sclerosi mista delle metafisi omerale
infiltrati polmonari transitori
sviluppo anomalo dell'articolazione radio-ulnare
contrattura in flessione delle dita
brachidattilia tipo B
età ossea ritardata e disarmonica
gonfiore dell'articolazione insorgente nella tarda infanzia
punteggiatura calcificante dello scheletro cartilaginoso infantile
falangi medie arrotondate del dito
falange distale del pollice bifido
diffusa calcificazione cerebrale
calipes calcaneovalgus congenito
limitata estensione del gomito e supinazione
deformità congenite nella contrazione del piede
fratture multiple prenatali
dislocazione della testa radiale ulnare
spina bifida cervicale
brachidattilia tipo E
pseudoartrosi
pollice trifalangeo opponibile
quarto e quinto metacarpali fusi
encondromatosi metafisaria
condrodisplasia metafisaria
brachitelomesofalangia
polisindattilia dell'alluce
aumento delle spire dei dermatoglifi
contratture progressive nella flessione
piccole fratture vertebrali multiple
diametro sagittale allargato del canale cervicale
contratture in flessione dito congenito
sinostosi metacarpofalangea
instabilità spinale
varianti dei dermatoglifi
ossificazione assente dei corpi vertebrali cervicali e toracici
afalangia delle mani
iperostosi craniale interna
curvatura progressiva dell'avambraccio
fusione prossimale di tibia e perone
doppio primo metacarpale
deviazione radiale della falange terminale del pollice
osteoporosi grave
disostosi metafisaria
quinto metacarpo con incisione ulnare
osteomielite multifocale ricorrente cronica
curvatura cervicale anormale
ritardo nella pneumatizzazione del processo mastoideo
forma romboidale o triangolare della falange media del 5° dito
atresia biliare
anomalia delle epifisi metacarpale
aplasia
ipoplasia che coinvolge le ossa del metacarpo
morfologia anomala metacarpo
soprannumerari ossa metacarpali
anomalia della falange del dito
anomalia delle epifisi delle falangi della mano
ossificazione anomala delle ossa della mano
morfologia anormale della mano
anomalie della metafisi della mano
anomalia delle epifisi della mano
anomalie della diafisi della mano
anomalie della corteccia delle ossa della mano
aplasia
ipoplasia che coinvolge le ossa della mano
sinostosi che coinvolge il perone
sinostosi che coinvolge la tibia
anomalia delle epifisi
differenziazione anomala della corticomedullare renale
adduzione imperfetta del cavo vocale
morfologia anormale cilio motile respiratoria
pneumothoraces bilaterali multipli
iperpnea intermittente a riposo
polmonite interstiziale desquamativa
arresto respiratorio
agenesia polmonare bilaterale
ostruzione laringea
dipendenza da ventilatore con incapacità di svezzare
ridotta sensibilità a ipossiemia
malattia polmonare cistica
episodi apneici nell'infanzia
atresia laringea parziale
stridore inspiratorio progressivo
diminuita funzione polmonare
emangiomatosi capillare polmonare
laringe abbreviata anteroposteriormente
disregolazione della respirazione
alterata gluconeogenesi
ipoargininemia
ipotermia intermittente
acidosi respiratoria e metabolica mista
instabilità della temperatura
acidosi respiratoria
intolleranza al fruttosio
chetoacidosi episodica
acidosi metabolica iperkaliemica
ipochloremic alcalosi metabolica
diabete mellito di tipo II
chetoacidosi metabolica
ridotta attività di fenilalanina idrossilasi
Fenilchetonuria
elevato livello di alfa-fetoproteina nel siero materno
limitazione del movimento del collo
gozzo multinodulare
torcicollo muscolare congenito
pelle ridondante sul collo
ipoplasia della tiroide
flessione limitata collo
gozzo nodulare
diminuzione del tessuto adiposo intorno al collo
limitato il movimento del collo a causa di contratture
atresia ureterale
ostruzione ureterale
ipotrofia dei muscoli piccoli della mano
brachidattilia unilaterale
ampia falange
metacarpo cuboidale
asse metacarpale allargato
ossa carpali con forma anormale
ritardata ossificazione epifisaria delle falangi
ridotto spazio articolare interfalangeo prossimale
epifisi arrotondate
coppettazione metafisaria delle ossa metacarpali
epifisi a cono delle falangi da 2 a 5
lungo secondo metacarpale
metacarpi a forma di Y
falangi brevi ed a punta
ampliamento distale del metacarpo
ispessimento periostale metacarpo
club hand' ulnare deviato
epifisi metacarpale a cono
falangi prossimali a forma di lapide
limitato movimento interfalangeo
centri di ossificazione carpale multipli
ritardo di ossificazione carpale severo
contratture articolari metacarpofalangee
assenti pieghe di flessione prossimale del dito
cortecce metacarpali sottili
sindattilia cutanea completa del 1°-5° dito
iperidrosi palmare
osso carpale mal allineato
ipermobilità articolare del dito
ampi ciuffi delle falangi distali
sindattilia del dito 3°-4°
iperestensibilità giunto Metacarpofalangeo
sindattilia del dito
osso trapezio assente
telangiectasi 'fingerpad'
metacarpo affusolato
piega falangea assente
accorciamento di tutte le falangi delle dita
falangi espanse con cavità midollari allargate
pieghe palmare multiple
accorciamento di tutte le falangi distali delle dita
rastremazione prossimale del metacarpo
ulcerazione acrale che porta ad autoamputazione delle dita
lunga falange del dito
falangi terminali a bacchetta
epifisi allargata metacarpale
ridotta mobilità del dito
polidattilia postassiale bilaterale
fusione prematura delle epifisi delle falangi
pieghe di flessione del dito anomale
accorciamento di tutte le falangi prossimali delle dita
osso metacarpale centrale a forma di Y
ampie epifisi metacarpali
progressiva fusione delle articolazioni prossimali interfalangee del 2°-5° dito
aumentata lassità delle dita
deformità delle dita a collo di cigno
sinfalangismo prossimale
osso carpale disarmonico
lunga falange del dito
deviazione ulnare del pollice
pieghe della flessione del palmo prominenti
polidattilia centrale
metacarpi irregolari
brevi metacarpi con estremità prossimale arrotondata
tumefazione dei tessuti molli delle articolazioni interfalangee
allargata articolazioni metacarpophalangeo
proporzionato accorciamento di tutte le dita
ossa metacarpali tubolari
prominente articolazioni interfalangee prossimali
diminuita mobilità del 3°-5° dito
falangi distali a forma di pedone
epifisi delle ossa tubolari appiattite e squadrate
sclerosi endosteale diafisaria del metacarpo
ispessimento periostale delle falangi prossimali
due centri di ossificazione carpale presenti alla nascita
pseudoepifisi del secondo metacarpale
ossa carpali affollate
pieghe palmari diminuite
articolazioni interfalangee prossimali allargate
fusione delle articolazioni mesofalangee
prominente pieghe interdigitali
polsi deviati radialmente
profonde pieghe palmare
falange del dito affusolata
falangi medie della mano a forma di ditale
falangi distali allargate
ipermobilità delle articolazioni interfalangee distali
osteolisi degli scafoidi
diminuito range di movimento nelle articolazioni interfalangee
falangi irregolari
ipersegmentazione della falange prossimale del secondo dito
parziale fusione delle ossa carpali
coppettazione delle metafisi delle falangi prossimali
parziale o completa assenza delle quinte falangi
oligodattilia postassiale
sottili falangi prossimali con epifisi larghe
singola piega interfalangea del quinto dito
limitata mobilità dell'articolazione interfalangea prossimale
estremità affusolata delle falangi distali del dito
artrosi della prima articolazione carpo-metacarpale
deformità valga della mano
oligodattilia unilaterale
ampliato metacarpo con cavità midollari allargate
osteoartrite dell'articolazione interfalangea distale
osteolisi che coinvolge le ossa del tarso
metacarpi snelli
articolazioni interfalangee prominente
accorciamento di tutte le falangi delle dita
lussazioni falangee
articolazioni interfalangee allargate
limitato movimento del polso
limitata estensione del polso
erosioni dell'articolazione interfalangea
gonfiore delle articolazioni interfalangee prossimali
alfa-fetoproteina elevata
anomalia della mobilità articolare della mano
anomalia dell'ossificazione delle ossa del carpo
anomalia delle articolazioni delle falangi della mano
aplasia
ipoplasia del quinto dito
anomalia delle epifisi del secondo dito
aplasia
ipoplasia del secondo dito
aplasia
ipoplasia delle dita
placenta piccola
grande placenta
splenomegalia fluttuante
milza ipoplastica
linfangiectasi pancreatica
ridotte cellule beta nel pancreas
pancreas iperecogeno
iperplasia pancreatica
tessuto pancreatico ectopico
disfunzione beta-cellulare
pancreatite cronica
ipoplasia generalizzata dello smalto dentale
denti non spuntati multipli
ipomineralizzazione dello smalto
decolorazione giallo-marrone dei denti
avanzata eruzione dei denti
agenesia dell'incisivo centrale
incisivi laterali scoloriti
ritardo nell'eruzione dei denti permanenti
anomalia nell'eruzione dentale
agenesia dell'incisivo centrale mascellare
ipoplasia dello smalto dentale
prolungato sanguinamento dopo estrazione dentale
calcificazioni della polpa a forma di pugnale
incisivi distanziati
atrofia delle creste alveolari
microdonzia generalizzata
denti primari ampiamente spaziati
singolo incisivo mascellare mediano
denti irregolarmente distanziati
denti secondari multipli che non spuntano
perdita prematura dei denti primari
denti racchiusi in mucopolisaccaride
ipoplasia del processo alveolare
incisivi centrali mascellari ruotati
incisivo mascellare soprannumerario
incisivi mascellari affollati
ipoplasia dei denti primari
persistenza di denti decidui
brevi radici dentali
eruzione precoce dei denti permanenti
malformazione del premolare mandibolare
incisivo mandibolare conico
incisivi laterali mascellari a forma di piolo
anomalia della morfologia del molare primario
incisivi a forma di cacciavite
microdontia di denti decidui
agenesia dei denti permanenti
obliterazione dell'alloggiamento della polpa
fallimento dell'eruzione dei denti permanenti
ipoplasia del germe dentale
agenesia dell'incisivo centrale mandibolare
perdita prematura dei denti permanenti
incisivi centrali mascellari a forma di pala
irregolarità delle epifisi femorali
deformità nel varus del collo omerale
contratture dell'adduttore lungo
ossa lunghe corrugate
difetti di riduzione nell'avambraccio
rotule irregolari
punteggiatura delle epifisi ulnare distali
diafisi delle ossa lunghe larghe
femore a forma di manubrio
flessione limitata del gomito
osteolisi della rotula
ipopolasia prossimale della tibia
contrattura della flessione del ginocchio
perone rudimentale
progressivo incurvamento delle ossa lunghe
femore distale a forma di randello
arti inferiori brevi
ipoplasia delle epifisi radiali distali
ampia metafisi femorale distale
limitata flessione del ginocchio
tibiale anteriore inclinato
ossa lunghe eccessivamente tubulate
aumentata densità delle ossa lunghe
limitata pronazione
supinazione dell'avambraccio
spostamento laterale della rotula
epifisi femorale distale piatte
epifisi del ginocchio assenti
accorciamento distale degli arti
femore prossimale a forma di randello
epifisi femorali distali irregolari
femore distale affusolato
curvatura progressiva della gamba
ampia metafisi tibiale
curvatura distale tibiale
ossa lunghe tubolari dense corticalmente
ampia metafisi femorale
displasia radiale asimmetrica
prominenza centrale della metafisi distale della tibia a forma di gancio
radio allungato
tibie assenti o rudimentali
ampio collo femorale
anomalie metafisarie del femore distale e prossimale
condili femorali distali trapezoidali
radio displastico
ipoplasia del radio prossimale
accorciamento della tibia
sproporzionata protuberanza del condilo femorale mediale
allargamento dell'epifisi femorale distale
lussazione radio-ulnare
aumentata densità delle diafisi delle ossa lunghe
aplasia laterale del condilo omerale
ipoplasia del perone prossimale
aplasia rotulea
Osteo-onicodisplasia ereditaria
rotula displastica
osteolisi dell'epifisi radiale distale
ossificazione multicentrica dell'epifisi femorale prossimale
spostamento laterale della testa del femore
gravi ritardi nell'ossificazione della rotula
irregolarità delle epifisi tibiali prossimali
sublussazione dorsale dell'ulna
aumentata lassità delle caviglie
epifisiolisi femorale prossimale
demineralizzazione ossea generalizzata
rachitismo degli arti inferiori
ispessimento periosteale delle ossa tubolari lunghe
contrattura della caviglia
movimento di spalla limitato
sottile diafisi delle ossa lunghe
flessione del gomito fisso
incurvamento anteriore delle ossa lunghe
anomalia delle cellule dell'isolotto pancreatico
anomalia delle creste alveolari
anomalia della polpa dentale
perdita prematura dei denti
anomalia dei denti primari
anomalia della morfologia dentale
numero abnorme di denti
agenesia dell'incisivo
anomalia della radice dentale
incurvamento delle ossa lunghe
incurvamento del braccio
anomalia della metafisi femorale
anomalia della metafisi arto inferiore
anomalia della metafisi tibiale
ipoplasia
aplasia del perone
aplasia
ipoplasia che coinvolge le ossa degli arti inferiori
aplasia
ipoplasia che coinvolge le ossa dei piedi
aplasia
ipoplasia dell'ulna
aplasia
ipoplasia che coinvolge le ossa degli arti superiori
aplasia
ipoplasia della rotula
anomalia delle epifisi femorali
anomalia che coinvolge l'epifisi degli arti inferiori
aplasia
ipoplasia del raggio
aplasia
ipoplasia che coinvolge le ossa del carpo
aplasia
ipoplasia che coinvolge le ossa dell'avambraccio
anomalia che coinvolge la diafisi degli arti
anomalia che coinvolge l'epifisi degli arti
aplasia
ipoplasia dell'omero
anomalia dell'epifisi tibiale
diverticolosi della trachea
malattia polmonare ostruttiva cronica
stridore laringeo
calcificazioni nodulari intraalveolari
polmonite interstiziale
polmonite da ipersensibilità
proteinosi alveolare congenita
malattia venoocclusiva polmonare
carcinoma a cellule alveolari
compromissione della funzione polmonare progressiva
linfangectasia polmonare
ripetuto pneumotorace
leiomiomatosis tracheobronchiale
difetti della segmentazione polmonare
polmonite interstiziale linfoide
Polmonite interstiziale linfocitaria
malattia polmonare cronica
sistema linfatico polmonare anormale
malattia polmonare interstiziale
linfangiectasia pleurica
polmonite ricorrente
bronchodisplasia
emorragia intrapolmonare ricorrente
affezione polmonare ostruttiva
infezioni broncopolmonari ricorrenti
ipoplasia cartilagine bronchiale
malattia cronica ostruttiva delle vie aeree dalla nascita
arresto cardiorespiratorio
sequestro extrapolmonare
malformazione arterovenosa polmonare
disgenesia polmonare primaria unilaterale
malattia fibrocistica polmonare
insufficienza epatica acuta
diffusa steatosi epatica
malattia del fegato policistico
diminuita attività del complesso mitocondriale III nel tessuto del fegato
calcificazioni epatiche
iperplasia biliare
accumulo di lipidi in epatociti
epatite virale
malformazione della placca duttale epatica
epatomegalia fluttuante
gocce lipidiche epatocellulare aumentate
epatopatia colestatica neonatale
aumentato contenuto di glicogeno epatico
ridotto numero di dotti biliari intraepatici
epatite virale progressiva subacuta
steatosi epatica acuta
malformazione arterovenosa epatica
colestasi intraepatica con ittero episodico
malformazioni vascolari epatiche
cirrosi macronodulare
prolungato ittero neonatale
fibrosi portale
deplezione del DNA mitocondriale nel fegato
episodi simili a sindrome di Reye
insufficienza epatica fatale nell'infanzia
scapole piccole ed anormalmente formate
pseudoartrosi congenita della clavicola
clavicole dritte
svasatura della gabbia toracica inferiore
sinostosi sternale precoce
assente del fossa glenoidea
inserzione anomala costola alle vertebre
sinostosi lunghezza scapolo-omerale
movimento limitato del torace
paralisi diaframmatica
irregolare ossificazione alle estremità di costola anteriore
allargamento mediale delle clavicole
progressiva calcificazione della cartilagine costocondrale
estremità delle costole irregolare
giunzioni condrocostali irregolare
ossificazione costocondrale precoce
ipoplasia medio-clavicolare
ampia distanza intermammellare
diminuito numero dei centri di ossificazione sternale
ossificazione della costola assente nell'utero
calcificazioni punteggiate della costola anteriore
sclerosi congiunta costocondrale
carcinoma mammario multifocale
ossificazione sternale assente
segmenti distali ipoplastici delle scapole
ipoplasia del fossa glenoidea
osteosclerosi delle costole
calcificazioni punteggiate sternali
aplasia medio-clavicolare
fratture costali multiple
costole prominenti che fluttuano
centri di ossificazione sternale grandi
centri di ossificazione sternale fusi
displasia toracica
clavicole sottili
calcificazione della cartilagine costale
microtorace congenito
dolore costocondrale
ispessimento del bordo laterale della scapola
anormalità della segmentazione delle costole
ipoplasia delle prime costole
spalle ruotate internamente
clavicole aplastiche
segno dell'attaccapanni nelle costole
ipoplasia della dodicesima costola
alterata contrattilità del miocardio
tachicardia atriale parossistica
ridotta funzione sistolica
prolungato complesso QRS
arterite coronarica granulomatosa
assente nodo atrioventricolare
extrasistole ventricolari
Extrasistole
riempimento ventricolare anomalo
preeccitazione ventricolare con vie accessorie multiple
fibrosi endocardiale
Sindrome da ipereosinofilia
tortuosità aortiche
tachicardia parossistica
endocardite batterica
calcificazione del miocardio
mixoma della valvola pulmonica
brevi corde tendinee della valvola tricuspide
steatosi del miocardio
malattia valvolare cardiaca calcificante progressiva precoce
difetto del canale atrioventricolare
extrasistole ventricolare polimorfica e politopica
aneurisma ventricolare
ritmi sopraventricolari ectopici
dissezione spontanea dell'arteria coronaria
aplasia
ipoplasia dei polmoni
anomalia delle arterie coronarie
anomalia delle valvole atrioventricolari
malattia cistica del fegato
anomalia del sistema vascolare epatica
aplasia
ipoplasia dei capezzoli
aplasia
ipoplasia delle clavicole
aplasia
ipoplasia che coinvolge le ossa del torace
aplasia
ipoplasia delle costole
aplasia
ipoplasia della scapolare
aplasia
ipoplasia dello sterno
glomus tympanicum paraganglioma
carcinoma colorettale nonpoliposico ereditario
neuroepitelioma periferico
tumori benigni del tratto gastrointestinale
leucemia linfatica acuta
carcinoide dell'intestino tenue
carcinoide intestinale
adenocarcinoma pancreatico
leucemie linfoblastiche acute delle cellule T
chemodettoma retroperitoneale
carcinoma follicolare della tiroide
carcinoma delle cellule renali papillare di tipo 2
leucemia megacariocitica acuta
adenoma corticale renale
feocromocitoma extraadrenale
carcinoma delle cellule squamose della pelle
carcinoma a cellule transizionali della vescica
neuroblastoma congenito
rabdomiosarcoma embryonale
carcinoma corticosurrenale
ganglioneuroblastoma
feocromocitoma surrenale
tumori maligni del tratto gastrointestinale
neurofibromi paraspinali
neoplasia dello stomaco
leiomiosarcoma cutaneo
diffusa leiomiomatosi
tumore maligno del tratto genito-urinario
carcinoma renale pelvico
carcinoma squamoso del canale anale
condrosarcoma
carcinoma papillare renale
adenoma ipofisario delle cellule della prolattina
neuroblastoma localizzato
tumori sottocutanei mixoidi
carcinoma renale delle cellule chiare
carcinoma duodenale
angiomiolipoma renale
Angiomiolipoma renale
angiolipoma cutaneo
adenocarcinoma papillare ovarico
mieloma multiplo
Plasmocitoma
neoplasia benigna del tratto genito-urinario
rabdomiosarcoma alveolare
carcinoma paratiroideo
adenoma della tiroide delle cellule di Hurthle
proliferazione maligna dell'eosinofilo
schisi faringea posteriore
ipoplasia del seno paranasale
distrofia muscolare dei cingoli
encefalopatia mitocondriale
corteccia cerebrale con modifiche spongiformi
perdita della capacità di camminare nel primo decennio
cisti dei gangli basali
riflessi tendinei profondi iperattivi
anomalia della cellula del corno anteriore
Sclerosi laterale amiotrofica
vivide allucinazioni
ipomielinizzazione cerebrale
anomalie della materia bianca nella regione periventricolare posteriore
convulsioni emicloniche
aplasia
ipoplasia del verme cerebellare
lissencefalia di tipo I
polimicrogiria, con gradiente antero-posteriore
paralisi del nervo cranico
pallore delle colonne dorsali del midollo spinale
atrofia del midollo spinale
grave ipotonia muscolare
ipotonia neonatale grave nei maschi
stagnazione dello sviluppo all'esordio delle crisi epilettiche
sindrome di Horner congenita
riflessi rotulei assenti
encefalopatia acuta
ipodisplasia del corpo calloso
ipoplasia del pons ventrale
neurofibromi simmetrici della radice del nervo spinale
ipotonia episodica generalizzata
atrofia del verme cerebellare
alterata propriocezione distale
leucoencefalopatia posteriore
ritardo  severo del linguaggio espressivo
polineuropatia sensitivo-motoria che interessa le braccia più delle gambe
lipomi della linea mediana del sistema nervoso centrale
oloprosencefalia lobare
ipoplasia cerebrale
simmetrica e progressiva demielinizzazione periferica
atrofia pontocerebellare
emangioblastoma cerebellare
diffusa demielinizzazione periferica
grave idrocefalia
alterata sensazione di vibrazione distale
disabilità intellettuale, progressiva
meningoencefalocele
disabilità intellettuale, borderline
corteccia cerebrale spessa
atrofia cerebrale frontotemporale
cervelletto severamente displastico
lobi olfattivi ipoplastici
ipertonia degli arti inferiori
allucinazioni ipnopompiche
paralisi del nervo cranico VI
fusione degli emisferi cerebellari
alterata sensibilità termica
neuropatia periferica congenita
degenerazione spinocerebellare ad insorgenza tardiva
calcificazione intracerebrale congenita
atrofia corticale frontale
incapacità a camminare di infanzia
adolescenza
accumulo curvilineo intrassonale di lipopigmenti autofluorescenti
sclerosi cerebrale diffusa
comportamento impulsivo, aggressivo o violento
rigidità muscolare assiale
variante di leucodistrofia metacromatica
polimicrogiria unilaterale
encefalopatia ipoglicemica
displasia corticale frontoparietale
lipoma del corpo calloso
episodi psicotici transitori
nistagmo congenito
Nistagmo
alterata sensazione tattile distale
alterata sensazione di vibrazione alle caviglie
diffusa leucoencefalopatia spongiforme
senso di vibrazione abolito
meningite ricorrente
neuropatia periferica episodica
ciste retrocerebellare
ipoplasia olivopontocerebellare
dilatazione dei ventricoli laterali
perdita della capacità di camminare
potenziali uditivi evocati anormali
atrofia muscolare spinale
calcificazioni del plesso coroideo
movimenti a scatti della testa
instabilità nell'andatura, peggio al buio
neurodegenerazione corticale cerebrale
encefalopatia acuta necrotizzante
leucomalacia periventricolare
encefalopatia focale necrotizzante
disturbo del linguaggio riguardante la grammatica
leucodistrofia dismielinizzante
disturbi del ciclo sonno-veglia
leucoencefalopatia progressiva
quadriparesi spastica lentamente progressiva
distale perdita sensoriale di tutte le modalità
spasticità arto superiore
oloprosencefalia alobare
disgenesia del corpo calloso
gliosi mielina-dipendente
encefalocele basale anteriore
diffusa leucoencefalopatia
gliosi dei gangli basali
scatti mioclonici di mattina
perdita di cellule del Purkinje nei vermi cerebellari
neuropatia motoria distale
degenerazione della colonna dorsale
cavitazione dei gangli basali
degenerazione del sistema nervoso centrale
scarsa coordinazione motoria fine
paralisi del quarto nervo cranico
scarsa coordinazione motoria grossolana
ipoplasia del tratto corticospinale
progressiva dimenticanza
disordine di iperattività da deficit di attenzione
paraplegia spastica progressiva
insensibilità al dolore
emorragia intracerebrale prenatale
paralisi pseudobulbare
Sindrome pseudobulbare
metencefalo malformato
aneurisma cerebrale a bacca
encefalopatia non progressiva
displasia cerebellare
iperreflessia generalizzata
encefalocele anteriore
ipoplasia del tratto olfattivo
lesioni simmetriche dei gangli basali
meningite linfocitaria cronica
lesioni focali della materia bianca
calcificazioni cerebrali della linea mediana
atrofia del nucleo dentato
gangli basali grandi
anomalie della materia bianca cerebrale multifocale
iperreflessia prossimalmente
scarsa coordinazione occhio-mano
atrofia cerebrale
ipoplasia generalizzata
aplasia della metà inferiore del verme cerebellare
deterioramento progressivo della lingua
disorganizzazione del verme cerebellare anteriore
rigidità muscolare prossimale degli arti
neuropatia sensoriale periferica distale
ipoplasia del verme inferiore
encefalopatia statica profonda
dimensioni abnormi del corpo calloso
rigidità muscolare extrapiramidale
ridotta ampiezza dei potenziali di azione sensitivi
distrofia muscolare ad insorgenza tardiva
dilatazione del terzo ventricolo
riflesso patellare iperattivo
degrado sociale ed occupazionale
movimenti a scatti involontari
fascicolazioni facciali-linguali
polimicrogiria frontoparietale
ipoplasia del tratto ottico
perdita del nervo motorio cranico
coreoatetosi parossistica
malformazione di Arnold-Chiari tipo I
Sindrome di arnold-chiari
ventricolomegalia progressiva
ipodensità della materia bianca cerebrale alla risonanza magnetica
prolungati potenziali evocati somatosensoriali
encefalopatia infantile
segmentale demielinizzazione periferica
demielinizzanti neuropatia periferica
cisti periventricolari
ipoventilazione centrale
encefalopatia epatica cronica
atrofia corticale temporale
encefalocele orbita
atrofia del tratto corticospinale
demenza subcorticale
amiotrofia prossimale
medulloblastoma cerebellare
polineuropatia acuta demielinizzante
degenerazione pallida
neuropatia periferica progressiva
neuropatia sensitivo-motoria
lesioni dei gangli basali bilaterali
amiotrofia distale degli arti superiori
disordine del movimento extrapiramidale progressivo
rigidità muscolare asimmetrica degli arti
rigidità muscolare extrapiramidale progressiva
fluttuazioni della consapevolezza
diffusa demielinizzazione della sostanza bianca cerebrale
biascicamento rallentato
eterotopia della materia grigia
discinesia parossistica
polineuropatia motoria
movimenti oculari per un oggetto che si muove assenti
atrofia del muscolo interosseo
ipomielinizzazione periferico
lesioni iperintense nei gangli basali su MRI
perdita di coscienza
lissencefalia focale
diplegia facciale congenita
perdita neuronale nella corteccia cerebrale
convulsioni generalizzate tonico-cloniche al risveglio
paraparesi spastica progressiva
ipersonnia episodica
aterosclerosi dell'arteria cerebrale
anomalie diffuse della sostanza bianca
emimegalencefalia
convulsioni tonico-cloniche generalizzate fotosensibili
cicli irregolari e ripiegamenti focali delle guaine mieliniche
paralisi facciale
amiotrofia di arto inferiore
paralisi periodica iperkaliemica
neuropatia motoria demielinizzante
atassia progressiva del tronco
macrogiria
calcificazioni periventricolari intracerebrali
potenziale di azione diminuito del nervo sensoriale distale
malattia del tratto spinocerebellare negli arti inferiori
grappoli di rigenerazione assonale
infarti sottocorticali ricorrenti
calcificazione cerebrale non arteriosclerotica
encefalopatia congenita
atassia progressiva dell'andatura
numero diminuito delle fibre nervose piccole periferiche mielinate
ricorrente oftalmoplegia esterna
anomalia della funzione motoria piramidale
Sistema piramidale
demielinizzazione severa della sostanza bianca
lissencefalia tipo II
demielinizzazione periferica simmetrica
atrofia spinocerebellare
mesencefalo assente
dismielinazione cerebrale
neuropatia assonale cronica
aprosencefalia
atrofia muscolare spinale
assenza atipica di convulsioni
mielomeningocele occipitale
progressivo deterioramento psicomotorio
meningite batterica ricorrente
scarsità dei motoneuroni del corno anteriore
atrofia muscolare spinale infantile acuta
ristagno inerente allo sviluppo
paralisi facciale in seguit a iperostosi cranica
nistagmo orizzontale coglione
fascicolazioni dell'arto
ciste alla fossa posteriore
meningocele sacrale anteriore
rapidi movimenti oculari coniugati caotici
Micromelia
disfunzione del tratto corticospinale laterale
aprassia oromotoria
disturbo affettivo bipolare
Disturbi dell'umore
demielinazione del Sistema Nervoso Centrale
rapido deterioramento neurologico
Ipopituitarismo
discinesia extrapiramidale
andatura confusa con passo breve
degenerazione cerebrale
eterotopia della materia bianca neuronale
Toe walking
movimenti involontari contorcenti
ipodensità dell sostanza bianca profonda
distonia generalizzata
coreoatetosi progressiva
polineuropatia mista assonale e demielinizzante
alterata sensazione di dolore
encefalocele frontale
convulsioni emifacciali
ipoplasia dei lobi frontali
crisi convulsive bilaterali
encefalopatia ricorrente
saccadi ipermetriche
debolezza muscolare degli arti inferiori
diffuso gonfiore della materia bianca cerebrale
malformazioni limbiche
atrofia
degenerazione che coinvolgono il midollo spinale
Presbiacusia
calcificazioni della materia bianca subcorticali
ipoplasia del tratto piramidale
iperreflessia agli arti superiori
tremore posturale degli arti superiori
calcificazioni cerebellari
sclerosi laterale amiotrofica
convulsioni focali
Crisi parziale semplice
aplasia
ipoplasia del cervelletto
anomalia del pons
aplasia
ipoplasia del tronco cerebrale
aplasia
ipoplasia del tratto piramidale
aplasia
ipoplasia del cervello
aplasia
ipoplasia che coinvolge i tratti corticospinali
atrofia
degenerazione che interessa il tronco cerebrale
atrofia
degenerazione che interessano il sistema nervoso centrale
atrofia
degenerazione che colpisce il cervello
aplasia
ipoplasia del corpo calloso
degenerazione
atrofia del corpo calloso
Malattia di farber
atrofia
degenerazione che coinvolge i tratti corticospinali
atrofia
degenerazione che coinvolgono i motoneuroni
Discinesia tardiva
atrofia
degenerazione che coinvolgono il nucleo caudato
anomalia del setto pellucido
anomalia del plesso corioideo
anomalia dei potenziali evocati somatosensoriali
neoplasia del tratto gastrointestinale
neoplasia del tratto urogenitale
telangiectasia facciale
eritrodermia esfoliativa congenita
assenza di pelle congenita localizzata
maturazione aberrante del melanosoma
aplasia congenita della cute del cuoio capelluto
Idrosadenite suppurativa
ipoplasia delle ghiandole sudoripare
ipercheratosi con eritema
eccessiva rugoso della pelle
vasi sanguigni superficiali prominenti
insorgenza postnatale eritroderma ittiosiforme
fotosensibilità cutanea precoce
ipoplasia della ghiandola apocrina ascellare
difetti della pelle asimmetrici e lineari
iperpigmentazione irregolare
atrofia della macula non-infiammatoria
aree di ipopigmentazione e iperpigmentazione che non seguono linee di Blaschko
ipertrofia della pelle delle suole
cheratoderma palmoplantare non-epidermolitico
iperpigmentazione delle palpebre
eccessiva pelle rugosa sul dorso delle mani e delle dita
suscettibilità tegumentale alla leishmaniosi
assenza di grasso sottocutaneo sopra tutto il corpo tranne glutei, fianchi e cosce
iperidrosi palmoplantare
ipoplasia-agenesia ghiandole sebacee
dermopatia maculari iperpigmentate
nevo flammeus della fronte
Cheilite
pelle neonatale rugosa delle mani e dei piedi
Tachicardia sinusale inappropriata
Encopresi
lupus discoidale eritematoso
alopecia totalis
ematomi spontanei
Osteocondrosi
telangiectasia delle guance
Desquamazione
Apudoma
pelle della iperestensibilità del viso
pigmentazione reticolata della pelle
telangiectasia della mucosa orale
alcune macchie caffè-au-lait
Encefalomalacia
edema generalizzato
eritrodermia congenita ittiosiforme
Ittiosi
eruzione papulare eritematosa generalizzata intermittente
emangioma facciale tipo placca
diffuso cheratoderma palmoplantare
displasia ectodermica capelli-unghie
leiomiomi cutanei multipli
pigmentazione screziata del tronco e delle estremità prossimali
cheratosi follicolare generalizzata
iperpigmentazione generalizzata
macules ipopigmentate
iperpigmentate
albinismo parziale
Riso sardonico
vesciche palmoplantari
diffusa ipercheratosi palmoplantare
ipercheratosi sulle aree edematos
macule ipopigmentate a confetto
aumentata pigmentazione dell'inguine con depigmentazione a goccia di pioggia
mancanza di sudorazione facciale ipsilaterale
emangioma capillare mediofacciale
lichenificazione flessionale
adermatoglifia
progressiva iperpigmentazione reticolare
vene prominenti sul tronco
cute focale iperestensibile
anidrosi generalizzata
autoamputazione delle dita
emangiomatosi
macchie di Bitot della congiuntiva
radi peli facciali
cheratodermia palmoplantare epidermolitica
emangioma capillare mediale frontale
ipercheratosi perifollicolari
cutis gyrata palmoplantare
noduli sottocutanei periarticolari
iperpigmentazione e ipopigmentazione ascellare e inguinale
croste dermatite eritematosa
eritroderma ittiosiforme congenito bolloso
displasia ectodermica anidrotica
anomalie dei dermatoglifi
congenita eritroderma ittiosiforme
Ittiosi lamellare
Eritrodermia ittiosiforme congenita
diminuita sudorazione dovuta a disfunzione autonomica
nevi iperpigmentati
lesioni papillari generalizzate
depigmentazione
iperpigmentazione della pelle
assenza di grasso sottocutaneo
emangioma cavernoso del viso
atrofia cutanea diffusa
diffusa teleangiectasia
matrici lineari di ipercheratosi maculare nelle aree di flessione
macule discrete ipo ed iperpigmentate di 2-5 mm
prematuro aspetto invecchiato
ipercheratosi palmoplantare focale correlato alla frizione
infezioni stafilococciche ricorrenti
diminuito numero delle ghiandole sudoripare
striature di ipercheratosi lungo ogni dito e sul palmo
ipercheratosi follicolare
ittiosi generalizzata
diffusa e lenta atrofia della pelle
iperpigmentazione progressiva
assenza congenita della cute degli arti
ipercheratosi Punctate palmare e solare
ipo- ed iperpigmentazione a chiazze
aplasia
ipoplasia dermica focale
pigmentazione screziata delle zone fotoesposte
ipopigmentazione generalizzata
edema del dorso delle mani
unità pilosebacee ipoplastiche
pelle ridondante su dita
cutis laxa palmoplantare
mancanza di tessuto grasso sottocutaneo
iperpigmentazione irregolare della schiena
aumentato numero di pieghe della pelle
neurofibromatosi atipica
tessuto sottocutaneo giallo ricoperto da pelle sottile e squamosa
pelle a macchie ipopigmentate sulle braccia
displasia ectodermica idrotica
ipercheratosi palmoplantare punteggiata
alopecia occipitale posteriore congenita
striature ipopigmentate
aplasia congenita della cute sulla linea mediana del cuoio capelluto
grave fotosensibilità
lipoma cutaneo frontale
pigmentazione del torace ventrale assente
ipercheratosi epidermica
piebaldismo
cheratosi palmoplantare congenita
iperpigmentazione lineare
cheratosi palmoplantare con eritema e scala
desquamazione della pelle subito dopo la nascita
ipoidrosi
iperidrosi
distribuzione anomala di tessuto grasso sottocutaneo
cheratosi palmoplantare simmetrica congenita
ipopigmentazione a confetti della pelle della gamba
ipercheratosi plantare
ipercheratosi epidermolitica localizzata
dermatoglifi insoliti
telangiectasia nella pelle esposta e non esposta al sole
chiazze caffè-au-lait multiple
dermatoglifo ad anello radiale del dito indice
dermatite seborroica generalizzata
perstans lenticularis ipercheratosi
striature iperpigmentate
dermatite atopica ad insorgenza tardiva
iperpigmentazione bronzea generalizzata
neurofibromi palmari
striatura longitudinale medio-sternale di ipopigmentazione
telangiectasia maculare eruttiva persistente
fragilità della pelle con vesciche non cicatrizzate
cute marmorea teleangectasica congenita
numerose lentiggini pigmentate
iperpigmentazione reticolare
aplasia congenita della cute sul tronco o gli arti
aplasia congenita della cute sulla zona parietale posteriore
aplasia
ipoplastia delle ghiandole sudoripare eccrine
pelle ridondante nell'infanzia
lipomi sottocutanei dolorosi
cheratodermia palmoplantare congenita
pieghe palmari bilaterale singole e traverse
pigmentazione marrone reticolata generalizzata
emangioma capillare facciale mediale
complesso aspetto dermatoglifico palmare
lentiggini nelle zone esposte al sole
eccessiva increspatura della pelle del palmo
malignità cutanee multiple
displasia ectodermica ipoidrotica
creste cutanee palmari anormali
edema ipoproteinemico
pigmentazione a macchie della pelle
cheratosi spinosa dei palmi e delle piante dei piedi
nevo flammeus nuchae
pigmentazione della pelle fine e reticolata
calcificazione sottocutanea
leiomioma cutaneo
telangectasia delle superfici dell'estensore
anomalie della pigmentazione della pelle esposta al sole
osteomielite mandibolare
aplasia del condilo mandibolare
ipoplasia del condilo mandibolare
microftalmo bilaterale
neuropatia ottica ischemica anteriore nonarteritica
discromatopsia
emeralopia stazionaria congenita
distacco di retina dalla trazione periferica
ciglia inferiori assenti
anomalia congenita del muscolo extraoculare
cataratta punteggiata
ipertrofia congenita dell'epitelio del pigmento retinico
oftalmoplegia progressiva
ectropion delle palpebre inferiori
eversione del terzo laterale delle palpebre inferiori
aplasia della ghiandola lacrimale
cataratta nucleare diffusa
macchie retiniche iperpigmentate grandi
ipopigmentazione e iperpigmentazione corioretinica
diminuita visione centrale
Acutezza visiva
ciglia ricce
degenerazione retinica cistica
inizio e mantenimento del movimento oculare del seguire alterato
riflesso vestibolo-oculare anomalo
progressiva cecità notturna
ipoplasia dell'iride
maculopatia vitelliforme
stenosi del dotto lacrimale
fundus depigmentate
avascolarizzazione retinica periferica
funzione pupillare anormale
ptosi unilaterale
risposta assente di coni e bastoncelli all'ERG
distrofia corneale 'mappa-dot-fingerprint'
cataratta congenita polimorfica
riflesso pupillare anomalo alla luce
ipoplasia delle palpebre inferiori
disgenesia del segmento anteriore
depositi pigmentari retinici
pigmentazione retinica anomala
movimenti oculari involontari parossistici
degenerazione corneale
afachia congenita
ciglia interne assenti
distrofia cornea a forma di banda
opacità periferica del vitreo
cataratta zonulare giovanile
deboli muscoli extraoculari
melanoma intraoculare
congiuntiviti irritative croniche
cornea piatta
aneurismi sacculari congiuntivali
perdita dell'epitelio retinico del pigmento
opacamento dell'epitelio corneale
miosi congenita
ipopigmentazione dell'iride
displasia corioretinica
ipoplasia della ghiandola lacrimale
sopracciglio incurvato lateralmente
ghiandole lacrimali allargate
retinite pigmentosa delle spicole ossee
movimenti incontrollati degli occhi
lunghe ciglia in filari irregolari
coloboma iridoretinale
nistagmo orizzontale monoculare
coloboma iridofundale
ipoplasia della fovea
distrofia maculare
distrofia corneale epiteliale giovanile
angolo della camera anteriore a fessura nei bambini
deficit visivo congenito
opacizzazione dello stroma corneale
distrofia corneale cristallina
scotoma pericentrale
teleangiectasia retinica
camera anteriore profonda
ipoplasia del disco ottico
tortuosità del vaso retinico centrale
degenerazione retinica periferica
ipoplasia della retina
alterato movimento nel seguire gli oggetti
anomalie vitreoretinali
ipoplasia del corpo ciliare
ciglia rade
cicatrici coroidoretiniche
neovascolarizzazione della retina periferica posteriore
segmento anteriore di aplasia dell'occhio
cataratta corticale pulverulenta
degenerazione dei coni retinici periferici
cataratta subcapsulare posteriore
chiazze atrofia dell'epitelio pigmentato retinico
movimento microsaccadico nel seguire con gli occhi
chiazzatura epiteliale del pigmento maculare retinico
cataratta corticale anteriore
malformazione vascolare retinica
depositi biancastri congiuntivali tipo sale
aumentata lunghezza assiale del globo oculare
distrofia corneale granulare
monocromatismo
compressione del nervo ottico
coloboma retinico bilaterale
distrofia corneale punteggiata
nistagmo pendolare orizzontale
ulcerazione corneali erpetiformi
uveite nongranulomatosa
retinopatia 'sale e pepe'
distribuzione anomala delle arteriole retiniche e venule
paralisi nello sguardo orizzontale sopranucleare
eterocromia centrale
cataratta Ppresenile
puncta atretica lacrimale
essudato retinico centrale
oftalmoplegia totale
distrofia corneale nodulare
diffusa degenerazione retinica dei coni
cecità notturna ad insorgenza adulta
oftalmoplegia esterna restrittiva non progressiva
pigmentazione della sclera
sinechie nella camera anteriore
cataratta progressiva
fessure palpebrali a S
distrofia corneale a mosaico
ptosi progressiva
ciglia superiori lunghe
deposizione di amiloide nell'umor vitreo
attenuazione dei vasi sanguigni della retina
proliferazione vascolare retinica
difetto glaucomatoso del campo visivo
opacamento punteggiato della cornea
lacune corioretiniche
nistagmo orizzontale congenito
calcificazione della retina
infarto retinico focale
oftalmoplegia esterna parziale restrittiva
degenerazione maculare legata all'età
emangiomata coroidale
linea di Schwalbe anormalmente prominente
fenditura palpebrale a mandorla
cecità congenita
Amaurosi congenita di leber
cataratta corticale giovanile
congiuntivite allergica
distrofia corneale marginale
distrofia corneale centrale
saccadi orizzontali rallentate
muscoli extraoculari assenti
cataratta subcapsulare posteriore iridescente
ipoplasia della puncta lacrimale
progressiva degenerazione retinica
ipopigmentazione del fundus
retinopatia essudativa
distaccamento della retina
ipoplasia del dotto lacrimale
emorragia vitrea
atrofia corioretinica paravenosa pigmentata
vasculazione anormale dell'iride
aumento della pressione intraoculare
ptosi bilaterale congenita
reticolare distrofia retinica
distrofia corneale posteriore polimorfa
distacco della retina trazionale
fibre retiniche ipermielinate
lenta riduzione dell'acuità visiva
aplasia del dotto lacrimale
potenziali evocati anormali da flash visuali
distacco della retina periferica
epicanto prominente
midriasi congenita bilaterale
ampio sopracciglio laterale
opacità lenticolare sottocapsulare posteriore giovanile
oftalmoplegia esterna restrittiva
degenerazione retinica del favo
monocromatismo del cono blu
limitati movimenti extraoculari
oftalmoplegia interna
anchilosi della staffa congenita
movimenti intermittenti microsaccadici nel seguire con gli occhi
fenditura palpebrale unilaterale stretta
retinite pigmentosa pericentrale
cataratta corticale posteriore densa
atrofia corioretinica peripapillare
opacità corneale
atrofia ottica da compressione del nervo cranico
rarefazione della pigmentazione retinica
distrofia corneale punteggiata
distrofia retinica macroreticolare
vitreoretinopatia degenerativa
assenza di potenziali evocati visivi
vitreo primario iperplastico persistente
ptosi congenita
cataratta lamellare
displasia retinica
saccadi orizzontali ipometriche
cataratta cerulea
nistagmo orizzontale
epitelio retinico del pigmento assente
ridotta ampiezza dell'onda b
occlusione arteriolare retinica
aumentata vascolarizzazione retinica
difetti progressivi del campo visivo
ipopigmentazione maculare
essudato intraretinico
stroma dell'iride ipoplastico
degenerazione retinica a reticolo
dotti lacrimali malformati
perdita del campo visivo periferico
diminuzione riflesso cornea
iperpigmentazione foveale
anomalia della pigmentazione macula
movimenti  a scatti del seguire con gli occhi
distrofia corneale congenita
glaucoma congenito primario
tre fila di ciglia
periferico opacamento della cornea
miopia congenita
microaneurismi centrale fundali arteriolari
sublussazione del cristallino superiore
degenerazione progressiva del cono
cataratta congenita nucleare
nistagmo orizzontale otticocinetico
degenerazione maculare cistoide
arterite retinica
cataratta posteriore Y-suturale
esotropia congenita
pigmentazione anomala dell'iride
retinite pigmentosa inversa
camera anteriore dell'occhio assente
aplasia
ipoplasia delle ghiandole lacrimali
opacità corneali subepiteliali
glaucoma congenito ad insorgenza tardiva
costrizione arteriolare retinica
potenziali evocati allargati ai flash visivi
anomalia del sistema vascolare retinico
anomalia del sistema vascolare dell'occhio
anomalia della linea di Schwalbe
anomalia dei muscoli extraoculari
anomalia delle fenditure palpebrali
anormali pieghe retiniche
aplasia
ipoplasia dell'iride
anomalia della vascolatura del congiuntiva
aplasia
ipoplasia che colpisce l'uvea
aplasia
ipoplasia che colpiscono l'occhio
aplasia
ipoplasia che interessano il fundus
aplasia
ipoplasia del nervo ottico
aplasia
ipoplasia della macula
aplasia
ipoplasia della fovea
aplasia
ipoplasia che colpisce la retina
aplasia
ipoplasia che interessano il segmento anteriore dell'occhio
aplasia
ipoplasia della lente
anomalia ittiosiforme della pelle
aplasia
ipoplasia della pelle
rigonfiamento anormale della pelle
Bolla
cute anormalmente lassa o iperestensibile
neoplasia della pelle
capelli radi
ipertensione materna
virilizzazione materna in gravidanza
basso livello di estriolo del siero materno
ispessimento periostale del metatarso
pes cavus progressivo
ossa osteoporotiche
cortecce metatarsali sottili
quinto metatarso assente
alluce varo
deformità del piede valgo
deviazione mediale del piede
ipoplasia delle falangi del secondo-quinto dito medio del piede
quinto metatarso non-ossificata
anomalia del quinto osso metatarsale
anchilosi delle piccole articolazioni dei piedi
quarto dito del piede breve
dita dei piedi ampiamente distanziate
osteolisi dell'astragalo
secondo dito del piede deviato a livello mediale
fusione parziale del carpo
metatarso espanso con cavità midollari allargate
ritardata ossificazione tarsale
piega plantare tra il primo ed il secondo dito
avanzata ossificazione tarsale
deformità dell'equinovaro
alluce distale ampio
contratture nella flessione plantare
pieghe multiple plantari
sclerosi endosteale diafisaria metatarsale
clinodattilia del terzo dito del piede
limitazione della flessione delle dita dei piedi
accorciamento del collo dell'astragalo
ossa tarsali deformate
fusione calcaneonavicolare
talipes calcaneovarus
secondo metatarsale collocato posteriormente
calcagno bipartito
punteggiatura tarsale
rotazione mediale del malleolo mediale
affusolamento distale dei metatarsi
ossificazione tarsale irregolare
equinus calcaneus
dislocazione delle dita dei piedi
ritardata ossificazione calcaneare
appiattimento della cupola talare
ridotta aggregazione piastrinica indotta da adrenalina
elevati livelli delle transaminasi nel siero durante infezioni
prolungata persistenza della protrombina
paresi periodica ipocaliemica
mucopolisaccariduria
iperapobetalipoproteinemia
aciduria da acido 3-idrossidicarbossilico
fosfatasi alcalina leucocitaria assente
iperammoniemia asintomatico
diminuito livello di cortisolo in circolazione
ridotte cellule T helper circolanti
diminuita attività della beta-galattosidasi
accumulo di acidi grassi a catena molto lunga
ridotta attività del fattore VII
iperbilirubinemia non coniugata neonatale
matrice cartilaginea anomala
elettroculogramma  diminuito
livello leggermente elevato di creatina fosfochinasi
abetalipoproteinemia
ipoplasia corticosurrenale
pubertà precoce nei maschi
citomegalia corticosurrenale
assenza di caratteristiche secondarie del sesso
disgenesia tiroidea
insensibilità dell'insulina
agenesia della tiroide
insufficienza gonadica primaria
adenomi multipli della beta-cellula pancreatica
assenza di sviluppo puberale
ipoparatiroidismo congenito
iperparatiroidismo primario
deficit di prolattina
pubertà precoce con tumore delle cellule di Sertoli
diabete insulino-dipendente resistente alla chetosi
insufficienza surrenalica primaria
Malattia di addison
iperplasia paratiroidale
insufficienza ovarica precoce
agenesia delle paratiroidi
deficit di gonadotropine
diminuito livello di estradiolo nel siero
disgenesia della ghiandola surrenale
ipocortisolemia
iperplasia surrenalica
infertilità femminile
ipotiroidismo compensato
iperplasia follicolare della tiroide
insufficienza di androgeni
resistenza ipofisaria all'ormone tiroideo
linfangiectasia della tiroide
diminuzione di testosterone nei maschi
iperplasia surrenale macronodulare
elevati livelli di ormone follicolo-stimolante
diminuito livello di progesterone nel siero
pubertà precoce isosessuale
ipotiroidismo ipotalamico
ipoplasia midollare surrenale
deficit di ormone della crescita secondario
pseudoipoaldosteronismo
ipoplasia surrenale congenita
ipotiroidismo ipofisario
Ipotiroidismo
ipertiroxinemia eutiroidea
iperplasia della tiroide
ipercalcemia Infantile
gozzo congenito
diabete neonatale transitorio
adenoma corticosurrenale
iperplasia surrenalica congenita
difetto del recettore
adenoma delle cellule dell'isolotto pancreatico
difetto della tiroide nell'ossidazione e nell'organicazione di ioduro
corpi di inclusione dei neutrofili
difetto di trasporto mitocondriale della lisina
aumentata emolisi delle cellule rosse da shear stress
collagene anormale di cartilagine su EM
difetto del trasporto tubulare renale di lisina
aminoaciduria transitoria
elettroretinogramma anormale cono-mediato
anomalia dell'omeostasi dello zinco
atrofia corticale cerebellare
iperlipidemia transitoria
iperammoniemia acuta
iperbilirubinemia non coniugata
iperinsulinemia a digiuno
transitoria ipofosfatemia
iperglicinemia Nonchetotica
mancanza parziale de fattore H del Complemento
adenoma delle cellule pituitarie corticotropiche
aciduria da acidi dicarbossilici a catena lunga
iperfenilalaninemia transitoria
escrezione di dermatansolfato nelle urine
degenerazione olivaria
mioglobinuria esercitazione-indotta
deposito anormale di ferro nei mitocondri
aciduria da acidi dicarbossilici a catena media
perdita di mielina dalle colonne posteriori del midollo spinale
diminuita attività mitocondriale del complesso II
livello diminuito di carnitina libera nel plasma
mitocondri anormali nel tessuto muscolare
fosfatasi alcalina leucocitaria elevata
ridotta aggregazione piastrinica indotta dal collagene
ridotta attività del fattore X
Fattore x
morfologia mitocondriale anormale
elettroretinogrammi anormali di coni e bastoncelli
carenza di vitamina B6
nefrocalcinosi microscopica
ridotta attività del fattore di von Willebrand
creatinchinasi elevata dopo esercizio
aminoaciduria renale
aciduria organica complessa
parziale deficienza del fattore D del sistema del complemento
diaminoaciduria
acidosi tubulare renale distale
livello elevato di amino acidi plasmatici a catena ramificata
ipoplasia del muscolo dilatatore dell'iride
aumentata tendenza delle cellule rosse ad assumere forma a falce
diminuita attività mitocondriale del complesso IV
deficit di immmunoglobuline IgG2
alterata adesione piastrinica
iperaminoaciduria neutra
mancanza di attivazione del fattore X
iperlipidemia combinatA
ridotta attività del fattore XIII
iperprolinemia
ipoproteinemia neonatale
pallore del tratto corticospinale
aplasia
ipoplasia dell'alluce
aplasia
ipoplasia delle ossa tarsali
anomalia del calcagno
anomalia dell'astragalo
contratture che coinvolgono le articolazioni dei piedi
sinostosi delle ossa tarsali
ossificazione tarsale anormale
ossificazione anomala del metatarso
anomalia del metabolismo della vitamina A
pubertà e disordini gonadici
voce nasale disartica
crescita lenta delle unghie
aplasia
ipoplasia delle unghie
anomalia delle unghie del piede
perdita ricorrente delle unghie dei piedi e delle mani
unghie distrofiche
ipercheratosi subungueale
unghia curva congenita del quarto dito
onicodistrofia congenita
infezione moniliale cronica alle unghie
aplasia
ipoplasia - quinto dito e unghia
ipercheratosi circumungueale
onicolisi delle unghie distali
onicogriposi delle unghie dei piedi
unghia increspata
distrofia ungueale
Unghia
unghie del pollice iperconvesse
frammenti ipercheratosici subunghiali
cifosi lombare nell'infanzia
sei vertebre lombari
ipoplasia vertebrale
platispondilia squadrata
degenerazione del disco intervertebrale
calcificazioni vertebrali punteggiate
corpi vertebrali lombari alti
incuneamento vertebrale
displasia spinale
ipoplasia della quinta vertebra lombare
corpi vertebrali toracolombari a forma cuboide
schisi vertebrale
osteofiti sulla faccia anteriore delle vertebre lombari
incuneamento anteriore di L1
curva usuale invertita della colonna vertebrale
ipoplasia delle vertebre cervicali
ossificazione assente dei corpi vertebrali nell'utero
agenesia
ipoplasia del coccige
vertebre toraciche bifide
anomalie dell'arco vertebrali
emivertebre lombari
anomalia vertebrale X1-C2
erniazione dei nuclei intervertebrali
iperostosi vertebrale
deformità spinale
incuneamento posteriore dei corpi vertebrali
stenosi del canale spinale cervicale
ipoplasia delle vertebre del coccige
fusione vertebrale cervicale progressiva della colonna vertebrale
stretta distanza interpedicolare vertebrale
ipoplasia vertebrale posteriore
platispondilia a strato sottile
cifoscoliosi congenita
cifosi lombare
osso sacro displastico
sublussazione di C2-C3
restringimento caudale delle distanze interpedicolare
scoliosi congenita progressiva
agenesia vertebrale cervicale
processi spinali ipoplastici
ipoplasia vertebrale cervicale di sfaccettatura
instabilità cervicale
ipoplasia vertebrale centrale
processi spinosi delle vertebre toraciche e lombari inferiori assenti
vertebre assenti
emivertebre toraciche
anormale segmentazione sacrale
displasia cervicale vertebrale
ristrettezza delle distanze interpedicolate nelle regioni toraciche inferiori
coccige prominente e sporgente
diametro antero-posteriore stretto del corpo vertebrale
ipoplasia delle vertebre sacrali
piastre laterali sclerotiche irregolare
vertebre cervicali scarsamente ossificate
cambiamenti vertebrali tipo Scheuermann
corpi vertebrali ipoplastici
spondilosi cervicale
asimmetria delle articolazioni spinali
corpi vertebrali cervicali con diametro anteroposteriore ridotto
distanza interpedicolata toracolombare ridotta
distanza interpedicolata ridotta delle vertebre lombari
arrotondamento anteriore dei corpi vertebrali
spondilolistesi a L5-S1
difetti di segmentazione sacrale
chiusura precoce della fontanella anteriore
sublussazione inferiore
file multiple di ciglia
disostosi cranio-facciale congenita
nessuna dentatura permanente
ipermetropia di alto grado
schisi mediana del labbro e palato
moderata sordità neurosensoriale
oftalmoparesi statica
aspetto invecchiato e leonino
opacità corneale posteriore centrale
ipoacusia conduttiva bilaterale
aplasia
ipoplasia delle vertebre
anomalia dei processi spinosi vertebrali
aplasia
ipoplasia del sacro
aplasia
ipoplasia che coinvolge la colonna vertebrale
anomalia del coccige
fossa posteriore ad elica
sordità neurosensoriale congenita
peli lunghi che crescono dall'elica di pinna
assenza di riflesso acustico
schisi nella parte superiore del pinna
orecchie dislocate superiormente
perdita dell'udito a bassa frequenza
elica pieagta anormalmente
microtia
malformazione cocleare
funzione vestibolare assente
elica superiore ipoplastica
areflessia vestibolare
microtia, secondo grado
malformazione dell'orecchio esterno
ipoacusia neurosensoriale alle basse frequenze
elica piegata verso il basso
eliche superiori piegate verso il basso
ipoplasia della coclea
lieve ipoacusia neurosensoriale
apertura a fenditura del meato uditivo esterno
ipoplasia delle eliche
indebolimento congenito dell'udito a livello conduttivo
antitrago prominente
sordità neurosensoriale postlinguale
lieve ipoacusia conduttiva
deformità unilaterale dell'orecchio esterno
fossa sopraauricolare
progressiva ipoacusia conduttiva
cartilagine auricolare ipertrofica
anomalia morfologica dell'orecchio medio
sordità neurosensoriale infantile
ipoacusia neurosensoriale di inizio adulto
sordità neurosensoriale bilaterale
sordità neurosensoriale grave
anomalia della staffa
tinnito pulsante
disgenesia ureterale
tessuto gonadico assente
ipertrofia della vescica urinaria
glomerulopatia lobulare
ipoplasia gonadica
macroorchidismo congenito
nefroblastomatosi
fallimento dello sviluppo puberale nelle femmine
meato uretrale dislocato anteriormente
urolitiasi da acido urico indipendente da gotta
disfunzione erettile autonoma
glomerulonefrite necrotizzante
aplasia
ipoplasia delle tuba di Falloppio
pseudoermafroditismo maschile incompleto
malattia del rene midollare spugnoso
disgenesia renotubulare
stenosi uretrale
sarcoma renale
sclerosi dello sfintere uretrale
ipertrofia clitoridea
assorbimento alterato dell'istidina renale tubulare
disgenesia gonadica maschile
spermatogenesi anormale
setto vaginale parziale
nefrolitiasi da ossalato
ovaio policistico allargato
megalouretere congenito
Megauretere
nefrosi congenita
ipoplasia
aplasia renale
necrosi tubolare acuta
piccole labbra allargate
aplasia
ipoplasia dell'utero
ipoplasia della prostata
criptorchidismo bilaterale
diverticolo vescicale solitario
piccole labbra ipertrofiche
sindrome nefrotica transitoria
amartoma renale
ipoplasia delle tube di Falloppio
genitali interni assenti
calcificazione gonadica
triplicazione ureterale
duplicazione dell'uretra distale
scroto assente
sviluppo parziale dell'asta del pene
iperplasia prostatica benigna
stenosi ureterovescicale
disgenesia testicolare
fistola uretrovaginale
atrofia renale unilaterale
displasia renale unilaterale
insufficienza testicolare primaria
diverticolo uretrale
disgenesia gonadica con aspetto femminile, maschio
ipoplasia dell'ovaio
ipoplasia della vagina
assenza di grandi labbra
genitali esterni femminili nei maschi
ipofosfatemia renale
testicoli displastici
diminuita dimensione testicolare
ipoplasia del pene
rene non correttamente localizzato e duplicato
pseudoipertrofia labiale
setto vaginale longitudinale
barra mediana della prostata prominente
ipospadia coronale
anomalia del ripiegamento ariepiglottico
ossificazione cartilaginea della laringe
ipoplasia laringea
atresia laringea
schisi laringea
malformazione della cartilagine laringea
aplasia dell'epiglottide
calcificazione della laringe
laringotracheomalacia
incurvamento delle corde vocali
paralisi unilaterale del cavo vocale
comportamento violento
comportamento compulsivo ripetitivo
nessuna interazione sociale
allucinazioni uditive
auto-mutilazione della lingua e le labbra a causa di movimenti involontari
comportamento sessuale inadeguato
tratto ossessivo-compulsivo
aplasia
ipoplasia dell'orecchio
aplasia
ipoplasia dell'orecchio esterno
aplasia
ipoplasia dell'orecchio medio
aplasia
ipoplasia dell'orecchio interno
anomalia della prostata
anomalia dell'arteria renale
anomalia delle corde vocali
lussazione congenita bilaterale dell'anca
metafisi femorale prossimale allargata
ampia epifisi femorale capitale
ritardata ossificazione di rami pubici
dentellatura della cresta iliaca
ritardata ossificazione dell'osso pubico
epifisi femorale capitale a forma di cono
creste iliache displastiche
fianchi ruotati esternamente
ossificazione precoce delle epifisi femorale capitale
tacche sacrosciatiche allargate e piccole
limitato movimento dell'anca
ipoplasia del piccolo trocantere
ipoplasia della testa femorale
tacca sacroiliaca stretta
vasta testa femorale
displasia acetabolare
creste iliache alte
testa femorale appiattita
ossa pubiche aplastiche
grandi ali iliache
collo femorale stretto
ossificazione assente dell'epifisi femorale capitale
ilio inferiore ipoplastico
rami ipoplastici dell'ischio
rami pubici inferiori ipoplastici
corpo iliaco ipoplastico
dislocazione della testa femorale
ossificazione ritardata epifisaria femorale prossimale
ossificazione ritardata della testa femorale
rami pubici ipoplastici
tetto acetabolare irregolare
ossificazione multicentrica della testa femorale
calcificazione punteggiata dell'epifisi prossimale dell'omero
bacino ipoplasico
osteoartrite all'anca
bassa statura mesomelica
ritardo severo dello sviluppo intrauterino
statura moderatamente bassa
ritardo grave della crescita postnatale
moderato ritardo della crescita postnatale
bassa statura neonatale da corto tronco
mancanza di crescita secondaria ad infezioni ricorrenti
problemi alimentari nell'infanzia
statura bassa da arti sproporzionatamente corti
ritardo lieve di crescita intrauterino
perdita di tessuto adiposo
grave nanismo da arti corti
ritardo della crescita postnatale
rizomelia
bassa statura letale da arti corti
obesità del tronco ad esordio infantile
bassa statura neonatale da arti corti
bassa statura da corto tronco ad esordio infantile
statura asimmetrica
generalizzata ipotonia neonatale
ipotonia muscolare del tronco
linfadenopatia generalizzata
rabdomiolisi acuta
amiotrofia distale degli arti inferiori
perdita della capacità di camminare nella prima infanzia
amiotrofia della cintura pelvica
ipotonia muscolare infantile
amiotrofia prossimale degli arti superiori
ipoplasia muscolare spalla
ipoplasia del pettorale maggiore
atrofia muscolare intrinseca della mano
atrofia muscolare distale
amiotrofia prossimale degli arti inferiori
debolezza muscolare distale degli arti superiori
ipoplasia muscolare del polpaccio
debolezza del muscolo tibiale
atrofia muscolare progressiva
rigidità muscolare indotta dall'esercizio
ipertrofia muscolare degli arti inferiori
rigidità muscolare delle gambe
distrofia muscolare scapolo-omerale
diminuita attività della catena respiratoria mitocondriale
miopatia necrotizzante
ipertrofia muscolare del polpaccio
ipoplasia muscolare del collo
grasso intramuscolare aumentato
agenesia del diaframma
atrofia muscolare della cintura pelvica
crampi alle gambe indotta da esercitazione
aumentato grasso intra-addominale
debolezza dei muscoli prossimali degli arti inferiori
debolezza dei muscoli prossimali degli arti superiori
ipoplasia del pettorale
perdita di tessuto adiposo sottocutaneo del tronco
aumento del tessuto adiposo sottocutaneo del tronco
ipoplasia della muscolatura
debolezza dei muscoli intrinseci della mano
bicipiti ipoplastici
ipoplasia del muscolo anteriore del serrato
assenza congenita dei muscoli glutei
ipoplasia muscolare di arto superiore
perdita del tessuto adiposo sottocutaneo gluteale
progressiva perdita di tessuto adiposo facciale
affaticamento muscolare indotta da esercizio
debolezza muscolare della parete addominale
aumento del tessuto connettivo
ipoplasia del muscolo 'dorsi latissimus'
debolezza del flessore del piede
Piede cadente
generalizzata debolezza dei muscoli degli arti
amiotrofia della muscolatura della caviglia
atrofia muscolare spinale segmentale
ipertrofia muscolare marcata
rabdomiolisi indotta da esercizio fisico
difficoltà nel correre
atrofia muscolare peroneale
atrofia del muscolo quadricipite
contenuto aumentato di glicogeno muscolare
debolezza muscolare distale degli arti inferiori
miopatia scapoloperoneale
atrofia muscolare degli arti generalizzata
perdita di tessuto adiposo sottocutaneo da arti superiori
aumentato contenuto lipidico muscolare
lipodistrofia congenita generalizzata
atrofia del muscolo scapolare
ipotonia assiale infantile
debolezza muscolare distale
lipodistrofia generalizzata
atrofia muscolare spinale progressiva
miopatia mitocondriale infantile letale
miopatia infiammatoria
riflesso di Achille diminuito
debolezza muscolare prossimale
debolezza dei muscoli estensori delle dita lunghe
tacca sulla linea mediana della cresta alveolare superiore
crescita eccessiva della cresta alveolare
lingua dislocata posteriormente
difficoltà nell'articolazione di un discorso
ipertropia progressiva della cresta alveolare
schisi inferiore della cresta alveolare
candidosi orale cronica
palatoschisi mediana
creste alveolari anteriori spesse
labbro leporino submucoso
malocclusione anteriore al morso
aplasia
ipoplasia che coinvolgono il bacino
aplasia
ipoplasia dell'osso pubico
ossificazione anomala dell'osso pubico
ossificazione ossea anormale pelvica
ossificazione anomala che coinvolge la testa femorale e il collo
aplasia
ipoplasia che coinvolgono la testa femorale e il collo
denervazione del diaframma
eviscerazione diaframmatica
emidiaframma sinistro assente
debolezza diaframmatica
aplasia
ipoplasia che coinvolge lo scheletro
aplasia
ipoplasia che coinvolge le ossa del cranio
aplasia
ipoplasia della mascella superiore
aplasia
ipoplasia della mandibola
aplasia
ipoplasia dei seni frontali
aplasia
ipoplasia che coinvolgono i seni
morfologia anormale dello scheletro assiale
aplasia
ipoplasia che colpisce le ossa dello scheletro assiale
ipo- ed iperpigmentazione mista della pelle
anomalia del tessuto adiposo
lipodistrofia
aumento del tessuto adiposo
anomalia della muscolatura degli arti
aplasia
ipoplasia della muscolatura delle estremità
amiotrofia degli arti superiori
atrofia muscolare della mano
anomalia della muscolatura del torace
densità minerale dell'osso tarsale anormale
osteolisi che coinvolge le ossa dei piedi
duplicazione che coinvolge le ossa dei piedi
sinostosi che coinvolge le ossa degli arti inferiori
osteolisi che coinvolge le ossa degli arti inferiori
sinostosi che coinvolge le ossa dei piedi
deplezione del DNA mitocondriale nel tessuto muscolare
duplicazione delle ossa che coinvolgono gli arti superiori
ossa soprannumerarie dello scheletro assiale
anomalie delle arterie cerebrali
epifisi allargata della falange distale del quinto dito
epifisi piccola della falange distale del quinto dito
epifisi triangolare della falange distale del quinto dito
anomalia della falange prossimale del quinto dito
anomalia delle epifisi del quinto dito
anomalia dell'epifisi della falange prossimale del quinto dito
epifisi triangolare della falange prossimale del quinto dito
epifisi a cono della falange prossimale del quinto dito
epifisi ad avorio della falange prossimale del quinto dito
epifisi allargata della falange prossimale del quinto dito
epifisi piccola della falange prossimale del quinto dito
epifisi assente della falange prossimale del quinto dito
aplasia
ipoplasia della falange media del quinto dito
assenza della falange media del quinto dito
anomala calcificazione delle ossa del carpo
punteggiatura dell'epifisi della falange distale del quinto dito
frammentazione dell'epifisi della falange distale del quinto dito
epifisi irregolare della falange distale del quinto dito
falange media del quinto dito a forma di proiettile
ampia falange media del quinto dito
difetti osteolitici della falange media del quinto dito
epifisi triangolare del metacarpo
anomalia delle falangi medie del quarto dito
falange media curva del quinto dito
anomalia delle epifisi del quarto dito
sclerosi irregolare della falange media del quinto dito
sinfalangismo prossimale
medio del quinto dito
sinfalangismo della falange intermedia del quinto dito
deviazione del quinto dito
deviazione ulnare del quinto dito
falange centrale a forma triangolare del quinto dito
contratture alle articolazioni del quinto dito
contrattura dell'articolazione interfalangea distale del quinto dito
contrattura dell'articolazione interfalangea prossimale del quinto dito
contrattura del giunto metacarpofalangeo del quinto dito
epifisi a staffa della falange distale del quinto dito
pseudoepifisi della falange distale del quinto dito
frammentazione delle ossa metacarpali delle epifisi
epifisi irregolare del metacarpo
epifisi ad avorio del metacarpo
aplasia
ipoplasia della falange prossimale del quinto dito
pseudoepifisi del metacarpo
piccole epifisi del metacarpo
punteggiatura epifisaria del metacarpo
epifisi metacarpale assente
epifisi a staffa della falange prossimale del quinto dito
anomalia dell'epifisi della falange distale del quinto dito
epifisi irregolare della falange prossimale del quinto dito
pseudoepifisi della falange prossimale del quinto dito
punteggiatura dell'epifisi della falange prossimale del quinto dito
frammentazione dell'epifisi della falange prossimale del quinto dito
epifisi assente della falange media del quinto dito
epifisi a staffa della falange media del quinto dito
epifisi a cono della falange media del quinto dito
epifisi allargata della falange media del quinto dito
frammentazione dell'epifisi della falange media del quinto dito
epifisi irregolare della falange media del quinto dito
epifisi ad avorio della falange media del quinto dito
pseudoepifisi della falange media del quinto dito
epifisi piccola della falange media del quinto dito
punteggiatura dell'epifisi della falange media del quinto dito
epifisi triangolare della falange media del quinto dito
epifisi assente della falange media del quarto dito
epifisi a staffa della falange media del quarto dito
epifisi a cono della falange media del quarto dito
epifisi allargata della falange media del quarto dito
frammentazione dell'epifisi della falange media del quarto dito
epifisi irregolare della falange media del quarto dito
epifisi ad avorio della falange media del quarto dito
pseudoepifisi della falange media del quarto dito
epifisi piccola della falange media del quarto dito
punteggiatura dell'epifisi della falange media del quarto dito
epifisi triangolare della falange media del quarto dito
aplasia della falange prossimale del quinto dito
falange breve prossimale del quinto dito
falange ampia prossimale del quinto dito
proiettile a forma di falange prossimale del quinto dito
falange curva prossimale del quinto dito
difetti osteolitici della falange prossimale del quinto dito
sclerosi irregolare della falange prossimale del quinto dito
sinfalangismo che interessano la falange prossimale del quinto dito
falange prossimale del quinto dito a forma triangolare
sinfalangismo della falange prossimale del quinto dito con la quinto metatcarpal
5a a forma romboidale o triangolare falange prossimale del dito
breve quinto dito
aplasia del quinto dito
aplasia
ipoplasia della falange distale del quinto dito
falange ampia distale del quinto dito
proiettile a forma di falange distale del quinto dito
difetti osteolitici della falange distale del quinto dito
sclerosi irregolare della falange distale del quinto dito
sinfalangismo distale medio del quinto dito
falange distale del quinto dito a forma triangolare
aplasia della falange distale del quinto dito
anomalia dell'epifisi della falange media del quarto dito
anomalia dell'epifisi della falange prossimale del quarto dito
anomalia dell'epifisi della falange distale del quarto dito
epifisi assente della falange distale del quarto dito
epifisi a staffa della falange distale del quarto dito
epifisi a cono della falange distale del quarto dito
epifisi allargata della falange distale del quarto dito
frammentazione dell'epifisi della falange distale del quarto dito
epifisi irregolare della falange distale del quarto dito
epifisi ad avorio della falange distale del quarto dito
pseudoepifisi della falange distale del quarto dito
epifisi piccola della falange distale del quarto dito
punteggiatura dell'epifisi della falange distale del quarto dito
epifisi triangolare della falange distale del quarto dito
epifisi assente della falange prossimale del quarto dito
epifisi a staffa della falange prossimale del quarto dito
epifisi a cono della falange prossimale del quarto dito
epifisi allargata della falange prossimale del quarto dito
frammentazione dell'epifisi della falange prossimale del quarto dito
epifisi irregolare della falange prossimale del quarto dito
epifisi ad avorio della falange prossimale del quarto dito
pseudoepifisi della falange prossimale del quarto dito
epifisi piccola della falange prossimale del quarto dito
punteggiatura dell'epifisi della falange prossimale del quarto dito
epifisi triangolare della falange prossimale del quarto dito
aplasia
ipoplasia del quarto dito
deviazione del quarto dito
contratture alle articolazioni del quarto dito
contrattura dell'articolazione interfalangea distale del quarto dito
contrattura dell'articolazione interfalangea prossimale del quarto dito
contrattura del giunto metacarpofalangeo del quarto dito
deviazione ulnare del quarto dito
deviazione radiale del quarto dito
breve quarto dito
aplasia del quarto dito
anomalia della falange distale del quarto dito
anomalia della falange media del quarto dito
anomalia della falange prossimale del quarto dito
falangi curve del quarto dito
falange curva distale del quarto dito
falange curva media del quarto dito
falange curva prossimale del quarto dito
aplasia
ipoplasia delle falangi distali del quarto dito
falange breve distale del quarto dito
aplasia della falange distale del quarto dito
falange ampia distale del quarto dito
ampia falange media del quarto dito
falange media del quarto dito assente
falange breve media del quarto dito
falange media del quarto dito a forma di proiettile
difetti osteolitici della falange media del quarto dito
aplasia della falange prossimale del quarto dito
aplasia
ipoplasia della falange media del quarto dito
aplasia
ipoplasia della falange prossimale del quarto dito
falange prossimale del quarto dito breve
falange distale del quarto dito a forma di proiettile
difetti osteolitici della falange distale del quarto dito
sclerosi irregolare della falange distale del quarto dito
sinfalangismo distale medio del quarto dito
falange distale del quarto dito a forma triangolare
sclerosi irregolare della falange media del quarto dito
sinfalangismo della falange media del quarto dito
falange centrale a forma triangolare del quarto dito
falange ampia prossimale del quarto dito
falange prossimale del quarto dito a forma di proiettile
difetti osteolitici della falange prossimale del quarto dito
sclerosi irregolare della falange prossimale del quarto dito
sinfalangismo che interessa la falange prossimale del quarto dito
falange prossimale del quarto dito a forma triangolare
anomalia delle falangi medie del terzo dito
deviazione del terzo dito
aplasia
ipoplasia del terzo dito
contratture alle articolazioni del terzo dito
anomalia delle epifisi del terzo dito
epifisi assente della falange media del terzo dito
epifisi a staffa della falange media del terzo dito
epifisi a cono della falange media del terzo dito
epifisi allargata della falange media del terzo dito
frammentazione dell'epifisi della falange media del terzo dito
epifisi irregolare della falange media del terzo dito
epifisi ad avorio della falange media del terzo dito
pseudoepifisi della falange media del terzo dito
epifisi piccola della falange media del terzo dito
punteggiatura dell'epifisi della falange media del terzo dito
epifisi triangolare della falange media del terzo dito
anomalia dell'epifisi delle falangi distali del terzo dito
anomalia dell'epifisi della falange prossimale del terzo dito
anomalia dell'epifisi della falange media del terzo dito
epifisi assente delle falangi distali del terzo dito
epifisi a staffa della falange distale del terzo dito
epifisi a cono della falange distale del terzo dito
epifisi allargata delle falangi distali del terzo dito
frammentazione dell'epifisi delle falangi distali del terzo dito
epifisi irregolare delle falangi distali del terzo dito
epifisi ad avorio delle falangi distali del terzo dito
pseudoepifisi della falange distale del terzo dito
epifisi piccola delle falangi distali del terzo dito
punteggiatura dell'epifisi delle falangi distali del terzo dito
epifisi a triangolo delle falangi distali del terzo dito
epifisi assente della falange prossimale del terzo dito
epifisi a staffa della falange prossimale del terzo dito
epifisi a cono della falange prossimale del terzo dito
epifisi allargata della falange prossimale del terzo dito
frammentazione dell'epifisi della falange prossimale del terzo dito
epifisi irregolare della falange prossimale del terzo dito
epifisi ad avorio della falange prossimale del terzo dito
pseudoepifisi della falange prossimale del terzo dito
epifisi piccola della falange prossimale del terzo dito
punteggiatura dell'epifisi della falange prossimale del terzo dito
epifisi triangolare della falange prossimale del terzo dito
anomalia della falange distale del terzo dito
anomalia della falange prossimale del terzo dito
brachidattilia tipo A
brachidattilia tipo A1
brachidattilia tipo A2
brachidattilia tipo C
ampie falangi del quinto dito
falangi a forma di proiettile del quinto dito
aplasia
ipoplasia delle falangi medie del quinto dito
sclerosi irregolare delle falangi medie del quinto dito
falangi del quinto dito a forma triangolare
falange distale romboidale o triangolare del quinto dito
aplasia delle dita
dita corte
epifisi assente del quinto dito
epifisi a staffa del quinto dito
epifisi a cono del quinto dito
epifisi allargata del quinto dito
frammentazione delle epifisi del quinto dito
epifisi irregolare del quinto dito
epifisi ad avorio del quinto dito
pseudoepifisi del quinto dito
piccole epifisi del quinto dito
punteggiatura delle epifisi del quinto dito
epifisi triangolare del quinto dito
epifisi assente del quarto dito
epifisi a staffa del quarto dito
epifisi a cono del quarto dito
epifisi allargata del quarto dito
frammentazione delle epifisi del quarto dito
epifisi irregolare del quarto dito
epifisi ad avorio del quarto dito
pseudoepifisi del quarto dito
piccole epifisi del quarto dito
punteggiatura delle epifisi del quarto dito
epifisi triangolare del quarto dito
ampie falangi del quarto dito
falangi del quarto dito a forma di proiettile
sclerosi irregolare delle falangi medie del quarto dito
falangi del quarto dito a forma triangolare
aplasia
ipoplasia delle falangi medie del quarto dito
epifisi assente del terzo dito
epifisi a staffa del terzo dito
epifisi a cono del terzo dito
epifisi allargata del terzo dito
frammentazione delle epifisi del terzo dito
epifisi irregolari del terzo dito
epifisi ad avorio del terzo dito
pseudoepifisi del terzo dito
piccole epifisi del terzo dito
punteggiatura delle epifisi del terzo dito
epifisi triangolare del terzo dito
aplasia
ipoplasia delle falangi distali del terzo dito
falange ampia distale del terzo dito
falange distale del terzo dito a forma di proiettile
difetti osteolitici della falange distale del terzo dito
sclerosi irregolare della falange distale del terzo dito
sinfalangismo distale medio del terzo dito
falange distale del terzo dito a forma triangolare
falange curva distale del terzo dito
aplasia della falange distale del terzo dito
ampia falange media del terzo dito
falange media del terzo dito a forma di proiettile
falange media curva del terzo dito
difetti osteolitici della falange media del terzo dito
sclerosi irregolare della falange media del terzo dito
sinfalangismo della falange media del terzo dito
falange centrale a forma triangolare del terzo dito
aplasia
ipoplasia della falange media del terzo dito
assenza della falange media del terzo dito
falange breve media del terzo dito
ampie falangi del terzo dito
falangi del terzo dito a forma di proiettile
falangi curve del terzo dito
difetti osteolitici delle falangi medie del terzo dito
sclerosi irregolare delle falangi medie del terzo dito
sinfalangismo del terzo dito
falangi del terzo dito a forma triangolare
aplasia
ipoplasia delle falangi medie del terzo dito
falange ampia prossimale del terzo dito
falange prossimale del terzo dito a forma di proiettile
falange curva prossimale del terzo dito
difetti osteolitici della falange prossimale del terzo dito
sclerosi irregolare della falange prossimale del terzo dito
sinfalangismo che interessano la falange prossimale del terzo dito
falange prossimale del terzo dito a forma di triangolo
aplasia
ipoplasia della falange prossimale del terzo dito
aplasia della falange prossimale del terzo dito
falange breve prossimale del terzo dito
aplasia del terzo dito
terzo dito breve
deviazione radiale del terzo dito
deviazione ulnare del terzo dito
deviazione ulnare del secondo dito
deviazione ulnare del dito
deviazione radiale del dito
deviazione radiale del secondo dito
deviazione del secondo dito
contrattura dell'articolazione interfalangea distale del terzo dito
contrattura del giunto metacarpofalangeo del terzo dito
contrattura dell'articolazione interfalangea prossimale del terzo dito
contrattura dell'articolazione della mano
sinfalangismo prossimale
medio del quarto dito
sinfalangismo della falange prossimale del quarto dito con il quarto metatcarpale
sinfalangismo prossimale
medio del terzo dito
sinfalangismo della falange prossimale del terzo dito con il terzo metatcarpale
deviazione della mano o delle dita della mano
deviazione radiale della mano o delle dita della mano
deviazione radiale della mano
deviazione ulnare della mano
epifisi assente del secondo dito
epifisi a staffa del secondo dito
epifisi a cono del secondo dito
epifisi allargata del secondo dito
frammentazione delle epifisi del secondo dito
epifisi irregolare del secondo dito
epifisi ad avorio del secondo dito
pseudoepifisi del secondo dito
epifisi piccole del secondo dito
punteggiatura delle epifisi del secondo dito
epifisi triangolare del secondo dito
anomalia dell'epifisi delle falangi distali del secondo dito
anomalia dell'epifisi della falange media del secondo dito
anomalia dell'epifisi della falange prossimale del secondo dito
epifisi assente delle falangi distali del secondo dito
epifisi a staffa della falange distale del secondo dito
epifisi a cono della falange distale del secondo dito
epifisi allargata delle falangi distali del secondo dito
frammentazione delle epifisi delle falangi distali del secondo dito
epifisi irregolare della falange distale del secondo dito
epifisi ad avorio delle falangi distali del secondo dito
pseudoepifisi della falange distale del secondo dito
epifisi piccola delle falangi distali del secondo dito
punteggiatura dell'epifisi delle falangi distali del secondo dito
epifisi a triangolo delle falangi distali del secondo dito
epifisi assente della falange media del secondo dito
epifisi a staffa della falange media del secondo dito
epifisi a cono della falange media del secondo dito
epifisi allargata della falange media del secondo dito
frammentazione dell'epifisi della falange media del secondo dito
epifisi irregolare della falange media del secondo dito
epifisi ad avorio della falange media del secondo dito
pseudoepifisi della falange media del secondo dito
epifisi piccola della falange media del secondo dito
punteggiatura dell'epifisi della falange media del secondo dito
epifisi triangolare della falange media del secondo dito
epifisi assente della falange prossimale del secondo dito
epifisi a staffa della falange prossimale del secondo dito
epifisi a cono della falange prossimale del secondo dito
epifisi allargata della falange prossimale del secondo dito
frammentazione dell'epifisi della falange prossimale del secondo dito
epifisi irregolare della falange prossimale del secondo dito
epifisi ad avorio della falange prossimale del secondo dito
pseudoepifisi della falange prossimale del secondo dito
epifisi piccola della falange prossimale del secondo dito
punteggiatura dell'epifisi della falange prossimale del secondo dito
epifisi triangolare della falange prossimale del secondo dito
aplasia del secondo dito
secondo dito breve
contrattura nella flessione del secondo dito
contrattura dell'articolazione interfalangea distale del secondo dito
contrattura del giunto metacarpofalangeo del secondo dito
contrattura dell'articolazione interfalangea prossimale del secondo dito
anomalia delle falangi medie del secondo dito
anomalia della falange distale del secondo dito
anomalia della falange media del secondo dito
anomalia della falange prossimale del secondo dito
sinfalangismo del secondo dito
falangi del secondo dito a forma di triangolo
ampie falangi del secondo dito
falangi del secondo dito a forma di proiettile
falangi curve del secondo dito
difetti osteolitici delle falangi medie del secondo dito
sclerosi irregolare delle falangi medie del secondo dito
aplasia
ipoplasia delle falangi medie del secondo dito
anomalia dell'attaccatura dei capelli
proiezione del cuoio capelluto sulla guancia laterale
ipoplasia della faringe
aplasia della tibia
aplasia
ipoplasia delle falangi distali del secondo dito
falange ampia distale del secondo dito
falange distale del secondo dito a forma di proiettile
falange distale ricurva del secondo dito
difetti osteolitici della falange distale del secondo dito
sclerosi irregolare della falange distale del secondo dito
sinfalangismo distale medio del secondo dito
falange distale a forma triangolare del secondo dito
aplasia della falange distale del secondo dito
falange breve distale del secondo dito
aplasia
ipoplasia della falange media del secondo dito
ampia falange media del secondo dito
falange media del secondo dito a forma di proiettile
falange media curva del secondo dito
difetti osteolitici della falange media del secondo dito
sclerosi irregolare della falange media del secondo dito
sinfalangismo della falange media del secondo dito
falange media del secondo dito a forma triangolare
assenza della falange media del secondo dito
falange media breve del secondo dito
sinfalangismo prossimale
medio del secondo dito
aplasia
ipoplasia della falange prossimale del secondo dito
falange ampia prossimale del secondo dito
falange prossimale del secondo dito a forma di proiettile
falange curva prossimale del secondo dito
difetti osteolitici della falange prossimale del secondo dito
sclerosi irregolare della falange prossimale del secondo dito
sinfalangismo che interessano la falange prossimale del secondo dito
falange prossimale del secondo dito a forma triangolare
neurinoma vestibolare
schwannoma vestibolare bilaterale
neurinoma vestibolare unilaterale
anomalia del nervo vestibolococleare
astrocitoma
neurinoma periferico
amartoma retinico
neurofibromi occasionali
aplasia della falange prossimale del secondo dito
falange prossimale breve del secondo dito
sinfalangismo della falange prossimale del secondo dito con il secondo metatcarpale
anomalia delle epifisi del pollice
contrattura in flessione del pollice
aplasia
ipoplasia del pollice
anomalia delle falangi medie del pollice
deviazione
spostamento del pollice
completa duplicazione della falange distale del pollice
completa duplicazione della falange prossimale del pollice
duplicazione del primo metacarpo
falange distale bifida del pollice
duplicazione della falange distale del pollice
duplicazione della falange prossimale del pollice
falange prossimale bifida del pollice
completa duplicazione del primo metacarpo
primo metacarpo bifido
anomalia della falange distale del pollice
anomalia della falange prossimale del pollice
pollice posizionato distalmente
posizionamento prossimale del pollice
contratture dell'articolazione carpo-metacarpale del pollice
contratture dell'articolazione metacarpo del pollice
contratture dell'articolazione interfalangea del pollice
aplasia
ipoplasia della falange prossimale del pollice
falange ampia prossimale del pollice
falange prossimale del pollice a forma di proiettile
falange curva prossimale del pollice
difetti osteolitici della falange prossimale del pollice
sclerosi irregolare della falange prossimale del pollice
sinfalangismo della falange prossimale del pollice
falange prossimale del pollice a forma triangolare
assenza della falange prossimale del pollice
falange breve prossimale del pollice
sinfalangismo della falange prossimale del pollice con il 1 ° metatcarpal
aplasia
ipoplasia della falange distale del pollice
falange ampia distale del pollice
falange distale del pollice a forma di proiettile
falange curva distale del pollice
difetti osteolitici della falange distale del pollice
sclerosi irregolare della falange distale del pollice
falange distale del pollice a forma triangolare
aplasia della falange distale del pollice
falange breve distale del pollice
falangi del pollice a forma di proiettile
falangi curve del pollice
difetti osteolitici delle falangi medie del pollice
sclerosi irregolare delle falangi medie del pollice
sinfalangismo del pollice
falangi del pollice a forma triangolare
aplasia
ipoplasia delle falangi medie del pollice
assenza parziale del pollice
falange breve del pollice
anomalia dell'epifisi della falange distale del pollice
anomalia dell'epifisi della falange prossimale del pollice
epifisi assente della falange prossimale del pollice
epifisi a staffa della falange prossimale del pollice
epifisi a cono della falange prossimale del pollice
epifisi allargata della falange prossimale del pollice
frammentazione dell'epifisi della falange prossimale del pollice
epifisi irregolare della falange prossimale del pollice
epifisi ad avorio della falange prossimale del pollice
pseudoepifisi della falange prossimale del pollice
epifisi piccola della falange prossimale del pollice
punteggiatura dell'epifisi della falange prossimale del pollice
epifisi triangolare della falange prossimale del pollice
epifisi assente della falange distale del pollice
epifisi a staffa della falange distale del pollice
epifisi a cono della falange distale del pollice
epifisi allargata della falange distale del pollice
frammentazione dell'epifisi della falange distale del pollice
epifisi irregolare della falange distale del pollice
epifisi ad avorio della falange distale del pollice
pseudoepifisi della falange distale del pollice
epifisi piccola della falange distale del pollice
punteggiatura dell'epifisi della falange distale del pollice
epifisi triangolare della falange distale del pollice
epifisi assente del pollice
epifisi a staffa del pollice
epifisi a cono del pollice
epifisi allargata del pollice
frammentazione delle epifisi del pollice
epifisi irregolare del pollice
epifisi ad avorio del pollice
pseudoepifisi del pollice
piccole epifisi del pollice
punteggiatura delle epifisi del pollice
epifisi triangolare del pollice
contratture delle articolazioni interfalangee distali delle dita
difetti osteolitici delle ossa mano
sinostosi che coinvolge le ossa delle dita
sinostosi metacarpale
sinostosi carpale
sinostosi che coinvolge il primo metacarpo
linfocitosi cronica del fluido cerebrospinale
sinostosi che coinvolge il secondo metacarpo
sinostosi che coinvolge il terzo metacarpo
sinostosi che coinvolgono il quarto metacarpo
sinostosi che coinvolgono il quinto metacarpo
alfa interferone aumentata nel fluido cerebrospinale
lesioni da geloni
emangioblastoma retinico
emangioblastoma spinale
anomalia dell'epididimo
cistoadenoma papillare dell'epididimo
noduli subependimali
tuberi corticali
astrocitoma gigante-cellule subependimali
macules ipomelanotiche
adenoma sebaceo
macchia shagreen
pozzi di smalto dentale
anomalia della regione subungueale
fibromi subungueali
neoplasia vescicale
neoplasia renale
acromatici macchie retiniche
neoplasma del muscolo striato
rabdomioma cardiaco
rabdomioma
amartomata cerebrale
neurofibroma plessiforme
glioma
glioma ottico
neurofibromi spinali
pseudoartrosi tibiale
noduli di Lisch
anomalia dell'antielica
ipoplasia dell'antielica
aplasia della ghiandola parotidea
nefrosclerosi
spalle rigide
distichiasi
anomalia della dura madre spinale
cisti aracnoidi epidurali del canale spinale
setto nasale spesso
irsutismo lombosacrale
lobo dell'orecchio grande
aplasia del muscolo del pettorale
schisi nella base del cranio
singnatia fibrosa
anchiloblefaron
pterigio popliteo
pterigio intercrurale
ripiegamento piramidale della pelle che si estende dalla base alla punta delle unghie
pterigia al collo
pterigio antecubitale
schisi anteriore dei corpi vertebrali
rughe facciali
dolore all'arto
bassa attaccatura della columella
aplasia
ipoplasia delle falangi della mano
ampie falangi della mano
falangi della mano a forma di proiettile
falangi curve della mano
difetti osteolitici delle falangi della mano
sclerosi irregolare delle falangi della mano
sinfalangismo che interessano le falangi della mano
falangi della mano a forma triangolare
anello amniotico di costrizione
adattilia
pollice assente
breve pollice
sindattilia di punta di 3-4
corni iliaci
segno di Lester
aplasia
ipoplasia del bicipite
aplasia del bicipite
aplasia
ipoplasia dei tricipiti
aplasia tricipiti
aplasia
ipoplasia della muscolatura della coscia
aplasia
ipoplasia dei quadricipiti
aplasia del quadricipite
ascesso perianale
emisacro
sacro bifido
teratoma
teratoma presacrale
anomalia branchiale
fistola branchiali
ciste branchiali
colesteatoma
gozzo eutiroideo
milze soprannumerarie
diabete materno
Diabete mellito gestazionale
aplasia delle falangi della mano
falange breve del dito
ridotto numero di denti
scompenso cardiaco congestivo a basso output
diabete insipido nefrogenico
anomalia che coinvolge la diafisi degli arti superiori
anomalia della metafisi arto superiore
anomalia delle articolazioni degli arti superiori
anomalia del gomito
amelia che coinvolgono gli arti superiori
focomelia degli arti superiori
peromelia arto superiore
aplasia
ipoplasia delle estremità
ipoplasia che coinvolge le ossa degli arti inferiori
aplasia che coinvolge le ossa degli arti inferiori
amelia che coinvolge gli arti inferiori
focomelia degli arti inferiori
peromelia di arto inferiore
ipoplasia che coinvolge le ossa dell'avambraccio
aplasia che coinvolge le ossa dell'avambraccio
aplasia che coinvolge le ossa degli arti superiori
ipoplasia che coinvolge le ossa degli arti superiori
aplasia che coinvolge le ossa delle estremità
ipoplasia che coinvolge le ossa delle estremità
amelia
peromelia
focomelia
neuropatia assonale progressiva con demielinizzazione su elettroneurografia
mononeuropatia
anomalia della falange distale del dito
anomalia delle falangi della mano
anomalia delle falangi prossimali della mano
aplasia
ipoplasia delle falangi distali della mano
falange ampia distale del dito
falangi distali della mano  a forma di proiettile
falangi curve distali della mano
difetti osteolitici delle falangi distali della mano
sclerosi irregolare delle falangi distali della mano
aplasia
ipoplasia delle falangi della mano
ampia falange media del dito
falangi della mano a forma di proiettile
falangi curve della mano
difetti osteolitici delle falangi della mano
sclerosi irregolare delle falangi della mano
sinfalangismo della falange media del dito
falangi della mano a forma triangolare
aplasia
ipoplasia delle falangi prossimali della mano
ampie e prossimale delle falangi della mano
falangi prossimali della mano a forma di proiettile
curva prossimale delle falangi della mano
difetti osteolitici delle falangi prossimali della mano
sclerosi irregolare delle falangi prossimali della mano
sinfalangismo che interessa le falangi prossimali della mano
falangi della mano a forma triangolare
falangi distali della mano a forma triangolare
atassia cerebellare associato con andatura quadrupede
semplificazione girale corticale
ampio delle falangi distali di tutte le dita
aplasia delle falangi distali della mano
falange breve distale del dito
duplicazione della falange distale della mano
falangi distali coniche delle dita
tricoressi nodosa
anomalia della pigmentazione dei capelli
anomalia dei capelli sessuali secondario
irsutismo localizzato
attaccatura dei capelli anteriore alta
sottosviluppati creste sopraorbitali
anotia
telangiectasia dell'orecchio
orecchie ispessite
anomalia della cru dell'elica
anomalia dell'antitrago
cru orizzontale dell'elica
cru sottosviluppata dell'elica
cru prominente dell'elica
sordità unilaterale
orecchio accartocciato
schisi elica
nodulo congiuntivale
elica dell'orecchio prominente
elica dell'orecchio sottile
aplasia
ipoplasia dei lobi delle orecchie
lobo dell'orecchio attaccato
pieghe anteriori del lobo dell'orecchio
lobo dell'orecchio all'insu
aplasia degli ossicini dell'orecchio medio
anomalia dell'osso temporale
anomalia del trago
aplasia
ipoplasia del trago
ciclopia
asimmetria corneale
anisocoria
membrana pupillare persistente
ectopia della pupilla
retinoblastoma
nevo di Ota
anomalia di Duane
persistenza dell'arteria ialoide
aplasia
ipoplasia che coinvolge il naso
aumentata lacrimazione
aplasia del naso
ali nasali spesse
anomalia della columella
asimmetria delle narici
allargata naris
singolo naris
stretta naris
narici soprannumerari
aplasia
ipoplasia del setto nasale
setto nasale stretto
irsutismo facciale
guance incavate
aplasia mandibolari
asimmetria della mandibola
asimmetria della bocca
duplicazione della falange del pollice
duplicazione completa delle falangi medie del pollice
duplicazione parziale delle falangi medie del pollice
duplicazione della falange del secondo dito
polidattilia che interessano il secondo dito
duplicazione della falange prossimale del secondo dito
duplicazione della falange distale del secondo dito
duplicazione della falange media del secondo dito
duplicazione completa della falange distale del secondo dito
duplicazione parziale della falange distale del secondo dito
duplicazione completa della falange media del secondo dito
duplicazione parziale della falange media del secondo dito
duplicazione completa della falange prossimale del secondo dito
duplicazione parziale della falange prossimale del secondo dito
duplicazione parziale delle falangi medie del secondo dito
duplicazione completa delle falangi medie del secondo dito
polidattilia che interessano il terzo dito
duplicazione della falange del terzo dito
duplicazione completa delle falangi medie del terzo dito
duplicazione parziale delle falangi medie del terzo dito
duplicazione della falange distale del terzo dito
duplicazione della falange media del terzo dito
duplicazione della falange prossimale del terzo dito
duplicazione completa della falange distale del terzo dito
duplicazione completa della falange media del terzo dito
duplicazione completa della falange prossimale del terzo dito
duplicazione parziale della falange distale del terzo dito
duplicazione parziale della falange media del terzo dito
duplicazione parziale della falange prossimale del terzo dito
polidattilia che interessa il quarto dito
duplicazione della falange del quarto dito
duplicazione completa delle falangi medie del quarto dito
duplicazione parziale delle falangi medie del quarto dito
duplicazione della falange distale del quarto dito
duplicazione della falange media del quarto dito
duplicazione della falange prossimale del quarto dito
duplicazione completa della falange distale del quarto dito
duplicazione completa della falange media del quarto dito
duplicazione completa della falange prossimale del quarto dito
duplicazione parziale della falange distale del quarto dito
duplicazione parziale della falange media del quarto dito
duplicazione parziale della falange prossimale del quarto dito
duplicazione della falange del quinto dito
duplicazione completa delle falangi medie del quinto dito
duplicazione parziale delle falangi medie del quinto dito
duplicazione della falange distale del quinto dito
duplicazione della falange media del quinto dito
duplicazione della falange prossimale del quinto dito
duplicazione completa della falange distale del quinto dito
duplicazione completa della falange media del quinto dito
duplicazione completa della falange prossimale del quinto dito
duplicazione parziale della falange distale del quinto dito
duplicazione parziale della falange media del quinto dito
duplicazione parziale della falange prossimale del quinto dito
duplicazione della falange della mano
duplicazione completa della falange della mano
duplicazione parziale della falange della mano
duplicazione completa delle falangi prossimali della mano
duplicazione completa delle falangi distali della mano
duplicazione completa delle falangi della mano
duplicazione parziale delle falangi prossimali della mano
duplicazione parziale delle falangi distali della mano
duplicazione parziale delle falangi della mano
duplicazione della prima falange della mano
duplicazione della falange media della mano
anomalia del primo metacarpo
anomalia del secondo metacarpo
anomalia del terzo metacarpale
anomalia del quarto metacarpo
anomalia del quinto metacarpo
anomalia dell'epifisi del primo metacarpo
epifisi assente del primo metacarpo
epifisi a staffa del primo metacarpo
epifisi a cono del primo metacarpo
epifisi allargata del primo metacarpo
frammentazione dell'epifisi del primo metacarpo
epifisi irregolare del primo metacarpo
epifisi ad avorio del primo metacarpo
pseudoepifisi del primo metacarpo
epifisi piccola del primo metacarpo
punteggiatura epifisaria del primo metacarpo
epifisi triangolare del primo metacarpo
aplasia
ipoplasia del primo metacarpo
primo metacarpo ampio
primo metacarpo a forma di proiettile
primo metacarpo curvo
difetti osteolitico del primo metacarpo
sclerosi irregolare del primo metacarpo
primo metacarpo a forma triangolare
primo metacarpo breve
aplasia del primo metacarpo
aplasia
ipoplasia del secondo metacarpo
aplasia del secondo metacarpo
breve secondo metacarpo
aplasia
ipoplasia del terzo metacarpale
aplasia del terzo metacarpale
breve terzo metacarpo
aplasia
ipoplasia del quarto metacarpo
aplasia del quarto metacarpo
breve quarto metacarpo
aplasia
ipoplasia del quinto metacarpo
aplasia del quinto metacarpo
breve quinto metacarpo
aplasia delle ossa metacarpali
metacarpo breve
deviazione
spostamento di alluce
anomalia della falange prossimale dell'alluce
anomalia della falange distale dell'alluce
anomalia del primo metatarso
ampio alluce
anomalia delle epifisi di alluce
anomalia delle falangi medie dell'alluce
aplasia
ipoplasia delle falangi medie dell'alluce
ampie falangi dell'alluce
falangi dell'alluce  a forma di proiettile
falangi curve dell'alluce
difetti osteolitici delle falangi medie dell'alluce
sclerosi irregolare delle falangi medie dell'alluce
sinfalangismo che interessano le falangi dell'alluce
falangi dell'alluce a forma triangolare
duplicazione della falange dell'alluce
aplasia
ipoplasia del primo metatarso
ampio primo metatarso
primo metatarso a forma di proiettile
primo metatarsale curvo
difetti osteolitico del primo metatarso
sclerosi irregolare del primo metatarso
sinostosi che coinvolge il primo metatarso
primo metatarso a forma triangolare
duplicazione del primo metatarso
aplasia
ipoplasia delle falangi distali dell'alluce
falange ampia distale dell'alluce
falange distale dell'alluce a forma di proiettile
falange curva distale dell'alluce
difetti osteolitici della falange distale dell'alluce
sclerosi irregolare della falange distale dell'alluce
sinfalangismo che interessa la falange distale dell'alluce
falange distale a forma triangolare dell'alluce
duplicazione della falange distale dell'alluce
aplasia
ipoplasia della falange prossimale dell'alluce
falange ampia prossimale dell'alluce
falange prossimale dell'alluce a forma di proiettile
falange curva prossimale dell'alluce
difetti osteolitici della falange prossimale dell'alluce
sclerosi irregolare della falange prossimale dell'alluce
sinfalangismo che interessano la falange prossimale dell'alluce
falange prossimale a forma triangolare dell'alluce
duplicazione della falange prossimale dell'alluce
duplicazione completa della falange prossimale dell'alluce
duplicazione parziale della falange prossimale dell'alluce
duplicazione completa della falange distale dell'alluce
duplicazione parziale della falange distale dell'alluce
duplicazione completa del primo metatarso
duplicazione parziale del primo metatarso
duplicazione completa delle falangi medie dell'alluce
duplicazione parziale delle falangi medie dell'alluce
aplasia della falange distale dell'alluce
falange breve distale dell'alluce
primo metatarso assente
breve primo metatarso
aplasia della falange prossimale dell'alluce
piccola falange prossimale dell'alluce
alluce piccolo
aplasia delle falangi medie dell'alluce
piccola falange dell'alluce
polidattilia centrale
epifisi assente dell'alluce
epifisi a staffa dell'alluce
epifisi a cono dell'alluce
epifisi allargata dell'alluce
frammentazione delle epifisi di alluce
epifisi irregolare dell'alluce
epifisi ad avorio dell'alluce
pseudoepifisi di alluce
piccole epifisi dell'alluce
punteggiatura delle epifisi di alluce
epifisi triangolare dell'alluce
anomalia dell'epifisi della falange distale dell'alluce
anomalia dell'epifisi del primo metatarso
anomalia dell'epifisi della falange prossimale dell'alluce
epifisi assente della falange prossimale dell'alluce
epifisi a staffa della falange prossimale dell'alluce
epifisi a cono della falange prossimale dell'alluce
epifisi allargata della falange prossimale dell'alluce
frammentazione dell'epifisi della falange prossimale dell'alluce
epifisi irregolare della falange prossimale dell'alluce
epifisi ad avorio della falange prossimale dell'alluce
pseudoepifisi della falange prossimale dell'alluce
epifisi piccola della falange prossimale dell'alluce
punteggiatura dell'epifisi della falange prossimale dell'alluce
epifisi triangolare della falange prossimale dell'alluce
epifisi assente delle falangi distali dell'alluce
epifisi a staffa della falange distale dell'alluce
epifisi a cono della falange distale dell'alluce
epifisi allargata delle falangi distali dell'alluce
frammentazione dell'epifisi della falange distale dell'alluce
epifisi irregolare della falange distale dell'alluce
epifisi ad avorio delle falangi distali dell'alluce
pseudoepifisi della falange distale dell'alluce
epifisi piccola delle falangi distali dell'alluce
punteggiatura dell'epifisi della falange distale dell'alluce
epifisi triangolare della falange distale dell'alluce
epifisi assente del primo metatarso
epifisi a staffa del primo metatarso
epifisi a cono del primo metatarso
epifisi allargata del primo metatarso
frammentazione dell'epifisi del primo metatarso
epifisi irregolare del primo metatarso
epifisi ad avorio del primo metatarso
pseudoepifisi del primo metatarso
epifisi piccola del primo metatarso
punteggiatura dell'epifisi del primo metatarso
epifisi triangolare del primo metatarso
anomalia delle epifisi delle dita del piede
anomalia delle falangi delle dita del piede
epifisi delle dita del piede assenti
epifisi a staffa delle dita del piede
epifisi a cono delle dita del piede
epifisi allargata delle dita del piede
frammentazione delle epifisi delle dita del piede
irregolarità delle epifisi delle dita del piede
epifisi ad avorio delle dita del piede
pseudoepifisi delle dita del piede
epifisi piccola delle dita del piede
punteggiatura epifisi delle falangi del dito del piede
epifisi triangolare delle dita del piede
aplasia
ipoplasia delle falangi delle dita del piede
falange ampia delle dita del piede
falangi delle dita del piede a forma di proiettile
curvo delle falangi delle dita del piede
difetti osteolitici delle falangi delle dita del piede
sclerosi irregolare delle falangi delle dita del piede
sinfalangismo che interessano le falangi delle dita del piede
falangi delle dita del piede a forma triangolare
duplicazione della falange dell'alluce
anomalia delle falangi distali delle dita del piede
anomalia delle falangi delle dita del piede
anomalia delle falangi prossimali delle dita del piede
aplasia
ipoplasia delle falangi distali delle dita del piede
falange ampia distale delle dita del piede
falangi distali delle dita del piede a forma di proiettile
curvo delle falangi distali delle dita del piede
difetti osteolitici delle falangi distali delle dita del piede
sclerosi irregolare delle falangi distali delle dita del piede
sinfalangismo che interessano le falangi distali delle dita del piede
falangi distali delle dita del piede a forma triangolare
duplicazione della falange distale dell'alluce
aplasia
ipoplasia delle falangi delle dita del piede
ampie falangi delle dita del piede
falangi delle dita del piede a forma di proiettile
falangi curve delle dita del piede
difetti osteolitici delle falangi delle dita del piede
sclerosi irregolare delle falangi delle dita del piede
sinfalangismo che interessano le falangi delle dita del piede
falangi delle dita del piede a forma triangolare
duplicazione della falange media del dito del piede
aplasia
ipoplasia delle falangi prossimali delle dita del piede
ampie falangi prossimali delle dita del piede
falangi prossimale delle dita del piede a forma di proiettile
curva prossimale delle falangi delle dita del piede
difetti osteolitici delle falangi prossimali delle dita del piede
sclerosi irregolare delle falangi prossimali delle dita del piede
sinfalangismo che interessano le falangi prossimali delle dita del piede
triangolare a forma prossimale delle falangi delle dita del piede
duplicazione della falange prossimale dell'alluce
contrattura in flessione dell'alluce
contratture dell'articolazione tarso-alluce
contratture dell'articolazione interfalangea dell'alluce
contratture dei metatarso-falangea dell'alluce
deformità strutturale del piede
anomalia dell'epifisi del secondo metacarpo
pseudoepifisi del secondo metacarpo
anomalia dell'epifisi del terzo metacarpale
pseudoepifisi del terzo metacarpale
anomalia dell'epifisi del quarto metacarpo
pseudoepifisi del quarto metacarpo
anomalia dell'epifisi del quinto metacarpo
pseudoepifisi del quinto metacarpo
assenza delle epifisi delle falangi della mano
epifisi a staffa delle falangi della mano
epifisi a cono delle falangi della mano
epifisi allargata delle falangi della mano
frammentazione delle epifisi delle falangi della mano
irregolarità delle epifisi delle falangi della mano
avorio delle epifisi delle falangi della mano
pseudoepifisi delle falangi della mano
piccola delle epifisi delle falangi della mano
punteggiatura epifisi delle falangi del dito
triangolare delle epifisi delle falangi della mano
aplasia della falange media della mano
falange prossimale del dito breve
aplasia delle falangi prossimali della mano
anomalia delle epifisi delle falangi distali delle dita
anomalia delle epifisi delle falangi della mano
anomalia delle epifisi delle falangi prossimali della mano
assenza delle epifisi delle falangi distali della mano
epifisi a staffa delle falangi distali della mano
a cono epifisi delle falangi distali della mano
epifisi allargata delle falangi distali della mano
frammentazione delle epifisi delle falangi distali della mano
irregolarità delle epifisi delle falangi distali della mano
avorio delle epifisi delle falangi distali della mano
pseudoepifisi delle falangi distali della mano
epifisi piccole delle falangi distali della mano
punteggiatura delle epifisi delle falangi distali della mano
triangolare delle epifisi delle falangi distali della mano
assenza delle epifisi delle falangi della mano
epifisi a staffa delle falangi della mano
a cono epifisi delle falangi della mano
epifisi allargata delle falangi della mano
frammentazione delle epifisi delle falangi della mano
irregolarità delle epifisi delle falangi della mano
avorio delle epifisi delle falangi della mano
pseudoepifisi delle falangi della mano
piccola delle epifisi delle falangi della mano
punteggiatura delle epifisi delle falangi della mano
triangolare delle epifisi delle falangi della mano
assenza delle epifisi delle falangi prossimali della mano
epifisi a staffa delle falangi prossimali della mano
epifisi a cono delle falangi prossimali della mano
epifisi allargata delle falangi prossimali della mano
frammentazione delle epifisi delle falangi prossimali della mano
irregolarità delle epifisi delle falangi prossimali della mano
avorio delle epifisi delle falangi prossimali della mano
pseudoepifisi delle falangi prossimali della mano
piccola delle epifisi delle falangi prossimali della mano
punteggiatura delle epifisi delle falangi prossimali della mano
triangolare delle epifisi delle falangi prossimali della mano
stomatite
schisi al labbro inferiore
sottile inferiore vermiglio del labbro
iperpigmentazione intra-orale
sinechia orale
anomalia delle ghiandole salivari
anomalia delle ghiandole sottomandibolari
anomalia delle ghiandole sublinguali
schisi alla cresta alveolare
palato duro corto
creste palatine prominenti
ugola assente
aplasia
ipoplasia del uvula
fistola del palato
aplasia
ipoplasia della lingua
anchiloglossia
lingua bifida
lingua liscia
anomalia della dentina
anormalmente basso tono voce
disrafia spinale
tumore del midollo spinale
anomalia delle meningi spinali
diverticolo meningeo spinale
assenza del sacro
torace corto
stridore
asternia
sterno bifido
chilotorace
aplasia
ipoplasia dei seni
asimmetria delle mammelle
ipertrofia del seno
telarca prematuro
aplasia
ipoplasia del diaframma
anomalia di Ebstein della valvola tricuspide
aplasia scapolare
aplasia
ipoplasia della muscolatura della parete addominale
anomalia del secondo dito del piede
anomalia del terzo dito del piede
anomalia del quarto dito del piede
anomalia del quinto dito del piede
anomalia delle epifisi del secondo dito del piede
anomalia della falange del secondo dito del piede
aplasia
ipoplasia del secondo dito del piede
deviazione
spostamento del secondo dito del piede
contrattura della flessione del secondo dito del piede
polidattilia che interessano il secondo dito del piede
anomalia delle epifisi del terzo dite del piede
anomalia delle falangi medie del terzo dite del piede
aplasia
ipoplasia del terzo dite del piede
deviazione
spostamento del terzo dite del piede
contrattura in flessione del terzo dite del piede del piede
polidattilia che interessano la terzo dite del piede
anomalia delle epifisi del quarto dite del piede
anomalia delle falangi medie del quarto dite del piede
aplasia
ipoplasia del quarto dite del piede
deviazione
spostamento del quarto dite del piede
contrattura della flessione del quarto dite del piede
polidattilia che interessano la quarta punta
anomalia delle epifisi del quinto dite del piede
anomalia delle falangi medie del quinto dite del piede
aplasia
ipoplasia del quinto dite del piede
deviazione
spostamento del quinto dite del piede
contrattura della flessione del quinto dite del piede
aplasia
ipoplasia delle falangi medie del secondo dite del piede
ampie falangi del secondo dite del piede
falangi a forma di proiettile del secondo dite del piede
falangi curve del secondo dite del piede
difetti osteolitici delle falangi medie del secondo dite del piede
sclerosi irregolare delle falangi medie del secondo dite del piede
sinfalangismo che interessano le falangi del secondo dite del piede
falangi del secondo dite del piede a forma triangolare
duplicazione delle falangi medie del secondo dite del piede
anomalia della falange distale del secondo dite del piede
anomalia della falange media del secondo dite del piede
anomalia della falange prossimale del secondo dite del piede
aplasia
ipoplasia delle falangi medie del terzo dite del piede
ampie falangi del terzo dite del piede
falangi a forma di proiettile del terzo dite del piede
falangi curve del terzo dite del piede
difetti osteolitici delle falangi medie del terzo dite del piede
sclerosi irregolare delle falangi del terzo dite del piede
sinfalangismo che interessano le falangi del terzo dite del piede
falangi del terzo dite del piede a forma triangolare
duplicazione della falange del terzo dite del piede
anomalia della falange distale del terzo dite del piede
anomalia della falange media del terzo dite del piede
anomalia della falange prossimale del terzo dite del piede
aplasia
ipoplasia delle falangi medie del quarto dite del piede
ampie falangi del quarto dite del piede
falangi a forma di proiettile del quarto dite del piede
falangi curve del quarto dite del piede
difetti osteolitici delle falangi medie del quarto dite del piede
sclerosi irregolare delle falangi medie del quarto dite del piede
sinfalangismo che interessano le falangi del quarto dite del piede
falangi del quarto dite del piede a forma triangolare
duplicazione della falange del quarto dite del piede
anomalia della falange distale del quarto dite del piede
anomalia della falange media del quarto dite del piede
anomalia della falange prossimale del quarto dite del piede
aplasia
ipoplasia delle falangi medie del quinto dite del piede
ampie falangi del quinto dite del piede
falangi a forma di proiettile del quinto dite del piede
falangi curve del quinto dite del piede
difetti osteolitici delle falangi medie del quinto dite del piede
sclerosi irregolare delle falangi medie del quinto dite del piede
sinfalangismo che interessano le falangi del quinto dite del piede
falangi del quinto dite del piede a forma di triangolare
duplicazione delle falangi medie del quinto dite del piede
anomalia della falange distale del quinto dite del piede
anomalia della falange media del quinto dite del piede
anomalia della prima falange del quinto dite del piede
aplasia
ipoplasia della falange prossimale del secondo dite del piede
falange ampia prossimale del secondo dite del piede
proiettile a forma di falange prossimale del secondo dite del piede
falange curva prossimale del secondo dite del piede
difetti osteolitici della falange prossimale del secondo dite del piede
sclerosi irregolare della falange prossimale del secondo dite del piede
sinfalangismo che interessano la falange prossimale del secondo dite del piede
falange prossimale a forma triangolare del secondo dite del piede
duplicazione della falange prossimale del secondo dite del piede
aplasia
ipoplasia della falange media del secondo dite del piede
ampia falange centrale del secondo dite del piede
falange centrale a forma di proiettile del secondo dite del piede
curva falange centrale del secondo dite del piede
difetti osteolitici della falange media del secondo dite del piede
sclerosi irregolare della falange media del secondo dite del piede
sinfalangismo che interessano la falange media del secondo dite del piede
falange centrale a forma triangolare del secondo dite del piede
duplicazione della falange media del secondo dite del piede
aplasia
ipoplasia delle falangi distali del secondo dite del piede
falange ampia distale del secondo dite del piede
proiettile a forma di falange distale del secondo dite del piede
falange distale ricurva del secondo dite del piede
difetti osteolitici della falange distale del secondo dite del piede
sclerosi irregolare della falange distale del secondo dite del piede
sinfalangismo che interessano la falange distale del secondo dite del piede
falange distale a forma triangolare del secondo dite del piede
duplicazione della falange distale del secondo dite del piede
duplicazione completa della falange prossimale del secondo dite del piede
duplicazione parziale della falange prossimale del secondo dite del piede
duplicazione completa della falange distale del secondo dite del piede
duplicazione parziale della falange distale del secondo dite del piede
duplicazione completa della falange media del secondo dite del piede
duplicazione parziale della falange media del secondo dite del piede
duplicazione parziale della falange del secondo dite del piede
duplicazione completa delle falangi medie del secondo dite del piede
aplasia delle falangi medie del secondo dite del piede
falange breve del secondo dite del piede
assenza della falange distale del secondo dite del piede
falange breve distale del secondo dite del piede
aplasia della falange media del secondo dite del piede
falange breve centrale del secondo dite del piede
aplasia della falange prossimale del secondo dite del piede
falange breve prossimale del secondo dite del piede
anomalia del setto ventricolare
appendice accessoria ectopica a punta
appendice accessoria ectopica a dito
polidattilia
femore bifido
insufficienza polmonare
difetto del setto atriale primo
stenosi tricuspidale
fistola anale
atresia colica
stenosi esofagea
aplasia
ipoplasia della milza
ectopia della milza
asimmetria pelvica
speroni acetabolari
tetto acetabolare ripido
anomalia della tacca sacrosciatica maggiore
ampliamento della tacca sacrosciatica
pseudoermafroditismo femminile
ermafroditismo vero
anomalia degli organi genitali femminili
anomalia dei genitali maschili
aplasia
ipoplasia dell'ovaio
aplasia delle ovaie
ovaio a striscia
pubertà precoce nelle femmine
aplasia
ipoplasia dei testicoli
aplasia dei testicoli
testicoli soprannumerari
Poliorchidismo
oligosaccariduria
anomalia della via biosintetica dell'eme
porfirinuria
calcoli vescicali
estrofia cloacale
aplasia
ipoplasia della vescica
aplasia della vescica
anomalia dell'uraco
uraco dolorante
fistola uretra
valvola uretra
acromelia degli arti superiori
anelli amniotico costrizione delle armi
ipertrofia dell'arto superiore
iperlassità a gomito
anomalia dell'eminenza ipotenar
eminenza ipotenare piccola
aplasia
ipoplasia delle pieghe palmari
assenza delle pieghe palmaree
anomalia delle pieghe palmaree
anello di costrizione digitale
osseoso sindattilia delle dita
metacarpi lunghi
acromelia degli arti inferiori
anelli amniotico costrizione delle gambe
ipertrofia dell'arto inferiore
sirenomelia
rotula bipartita
sublussazione rotulea
iperlassità del ginocchio
limitazione della mobilità del ginocchio
inclinazione fibulare
duplicazione fibulare
aumentata la lunghezza della tibia
limitazione del movimento a caviglie
anomalie dei dermatoglifi plantari
asimmetria dei piedi
valgismo metatarso
aplasia delle ossa tarsali
ipermobilità delle articolazioni
dito del piede lungo
Toe
calcificazione surrenale
calcificazione della ghiandola pituitaria
iperpituitarismo
aplasia
ipoplasia del timo
iperplasia del timo
tessuto ectopico timo
ciste tiroglossale
aumentato movimento fetale
aprassia nell'andatura
dislessia
Dislessia
alessia
agnosia
agnosia della barretta
disgrafia
astereognosia
prosopagnosia
ecolalia
mioclono palatale
mioclono spinale
vertigine parossistica
spasmus nutans
amnesia globale transitoria
apnea nel sonno
apnea centrale di sonno
ampia suture craniche
piccola sella turcica
calvarium sottile
avanzata pneumatization dei seni cranici
cutis gyrata del cuoio capelluto
nistagmo vestibolare
opsoclonus
nistagmo verticale
nistagmo deprimente
fibrillazione muscolare
flaccidità muscolare
miotonia percussioni
paralisi dovuta a lesioni dei tratti principio motore
paraplegia
paraplegia
paraparesi
crisi oculogirica
sindattilia cutanea del dito
dita sovrapposte
anomalia del clivo
clivo verticale
clavicole ondulate
costole ondulate
cheloidi
epiglottide bifida
aplasia
ipoplasia dell'epiglottide
amartoma
metatarsi a forma di Y
amartoma dell'occhio
elevato 7-deidrocolesterolo
basso livello di alfa-fetoproteina nel siero materno
livelli elevati di acido fitanico
anomalia dell'epifisi della testa femorale
displasia della testa del femore
lesione cistica intracranica
epifisi assente
epifisi a parentesi
epifisi a cono
epifisi allargata
irregolarità delle epifisi
epifisi ad avorio
pseudoepifisi
piccole epifisi
epifisi triangolare
fusione prematura epimetafisaria dominante
anomalia dell'epifisi femorale distale
anomalia dell'epifisi tibiale prossimale
anomalia dell'epifisi tibiale distale
anomalia delle epifisi fibulare
anomalia dell'epifisi prossimale perone
anomalia dell'epifisi distale perone
anomalia dell'epifisi radiale prossimale
anomalia dell'epifisi distale radiale
anomalia dell'epifisi prossimale dell'omero
anomalia dell'epifisi distale dell'omero
anomalia dell'epifisi ulnare distale
anomalia dell'epifisi ulnare prossimale
predominanza di fibre muscolari di tipo 2
tumore odontogenico cheratocistico
Tumore cheratocistico odontogeno
cisti della palpebra
calazio
orzaiolo
orzaiolo esterno
orzaiolo interno
macchie alla pelle a forma di targhetta
fosse palmari
fosse plantari
fibroma
angiofibromi
fibroma del polmone
fibroma cardiaco
fibroma ovarico
fibroma del seno
prominenza malare
sindattilia cutanea delle dita dei piedi
neoplasia del sistema scheletrico
aplasia
ipoplasia delle unghie dei piedi
disgenesia pituitaria anteriore
agenesia ipofisaria anteriore
ipoplasia ipofisaria anteriore
paralisi facciale
anomalia della corteccia dell'omero
anomalia dell'epifisi metatarsale
anomalia delle epifisi dei piedi
anosmia totale
anosmia parziale
iposmia totale
iposmia parziale
schizencefalia
amiloidosi congiuntivale
elevata fosfatasi alcalina di origine epatica
elevata fosfatasi alcalina di origine ossea
anomalia della cavità nasale
anomalia della cavità midnasal
atresia medio-nasale
stenosi medio-nasale
aplasia delle falangi distali delle dita
instabilità del rachide cervicale
anormale elasticità della pelle
traslucenza dermico
ali nasali piatte
sottosviluppo premascellare
anomalia delle meningi
anomalia del mater di dura
anomalia della falce cerebrale
aplasia della falce cerebrale
punteggiatura epifisaria
ossificazione epifisaria anormale
irregolare riduzione della densità minerale ossea
densità minerale ossea a chiazzze
variazione della densità minerale ossea irregolare
ossificazione ossea anormale mano
assenza del terzo ventricolo cerebrale
anomalia del diencefalo
anomalia del talamo
fusione dei talami destro e sinistro
coxa valga bilaterale
ipoplasia della spina nasale anteriore
aplasia della mascella superiore
anomalia dell'osso zigomatico
sottosviluppo dello zigomo
anomalia del terzo osso metatarsale
anomalia della curvatura della colonna vertebrale
ossificazione ossea anormale del piede
ileo meccanico
enuresi nocturna
Enuresi
enuresi diurna
elevato tessuto non-fosfatasi alcalina
elevata fosfatasi alcalina di origine renale
elevati di fosfatasi alcalina intestinale
elevata fosfatasi alcalina nella placenta
fosfatasi alcalina non-specifica bassa nei tessuti
bassa fosfatasi alcalina di origine ossea
bassa fosfatasi alcalina di origine renale
bassa fosfatasi alcalina di origine epatica
bassa fosfatasi alcalina intestinale
bassa fosfatasi alcalina placenta
polidattilia tipo immagine speculare
duplicazione delle dita tipo immagine speculare
duplicazione delle dita dei piedi tipo immagine speculare
sindattilia dito 2-5
cataratta pulverulenta
cataratta pulverulenta lamellare
cataratta suturale
cataratta polare
cataratta piramidale anteriore
cataratta nucleare pulverulenta
cataratta nucleare triangolare
cataratta totale
livello di immunoglobulina anormale
ipergammaglobulinemia
sindattilia dito 1-2
sindattilia 4-5 dito
sindattilia dito 1-3
sindattilia dito 1-4
sindattilia dito 1-5
sindattilia dito 2-4
sindattilia dito 3-5
sindattilia dito 1-2 del piede
sindattilia dito 1-4 del piede
sindattilia dito 1-5 del piede
sindattilia dito 2-4 del piede
sindattilia del dito 2-5 del piede
sindattilia di punta di 3-5
sindattilia ossea delle dita
anomalia della struttura dei capelli
pattern anormale dei capelli
verticillo anomalie dei capelli
asimmetria delle orecchie
lesioni cistiche delle pinne
pneumatizzazione avanzata del processo mastoideo
fibre nervose corneali prominenti
rottura spontanea del globo
aplasia della retina
macchia rosso ciliegia della macula
doppio sopracciglio
estensione delle sopracciglia verso la palpebra superiore
cambiamenti nodulari che interessano le palpebre
naevus flammeus della palpebra
displasia fibrosa delle ossa
displasia fibrosa poliostotica
displasia Fibrosa monostotica
osteopoichilosi
osteopatia striata
edema degli arti inferiori
edema degli arti superiori
breve osso metatarsale
osso metatarsale assente
aplasia delle falangi delle dita
ipoplasia delle falangi delle dita
svasatura mediale del sopracciglio
punctum lacrimale ectopica
blefarocalasia
dermatocalasi
fossetta del mento
mandibola fessurata
difetti della linea mediana della mandibola
anomalia dell'articolazione temperomandibolare
asimmetria della mascella superiore
aplasia
ipoplasia della premascella
aplasia della premascella
anomalia della premascella
protuberanza premascellare
aplasia delle dita
columella larga
cordoma
inserimento di columella a bassa
brevi ciglia
ipercheratosi palmare
calcificazione ectopica
anomalia pilonidale sacrococcigeale
seno pilonidale
fistola pilonidale
ascesso pilonidale
ritorno venoso polmonare anomalo
ritorno venoso polmonare anomalo parziale
cor triatriatrum
anello vascolare
tracheobronchmegalia
bronchomegalia
tracheomegalia
bacino grande
iperacusia
fossette della pelle
fossette sulla spalla
eritema
neoplasma uterino
neoplasma gonadico
neoplasia delle vie urinarie
neoplasia genitale
neoplasia testicolare
anomalia delle cellule del Leydig
ipplasia delle cellule di Leydig
iperplasia delle cellule di Leydig
unghia bifida
alterata cognizione costruttivia e visiospaziale
glioma cerebellare
glioma del tronco cerebrale
emangioblastoma
lentiggine al labbro
pinealoma
arco di cupido assente
ripiegamento nasolabiale sottosviluppato
iperpigmentazione periorale
vermiglio estroflesso del labbro superiore
vermiglio del labbro superiore a tenda
angoli della bocca all'insu
vermiglio del labbro superiore a forma di U
bocca aperta
lingua protrudente
ugola ampia
ugola lunga
ugola stretta
breve ugola
numero abnorme di verticilli dei capelli
posizione anomala delle spirale dei capelli
nevo sebaceo
nevo epidermico
nevo lineare sebaceo
convulsioni toniche generalizzate
convulsioni atoniche
convulsioni dacristiche
convulsioni gelastiche
scotoma scintillante
suture craniche increspate
anomalia del quinto nervo cranico
anomalia dell'undicesimo nervo cranico
anomalia del dodicesimo nervo cranico
anomalia del settimo nervo cranico
spasmo emifacciale
alterata sensazione di temperatura
alterata sensazione tattile
alterata propriocezione
anomalia della sensazione di dolore
sensazione di dolore spontaneo
modifiche trofiche legate al dolore
perdita sensoriale dissociata
anomalia dell'omeostasi del rame
diminuzione della ceruloplasmina nel siero
alto livello di rame nel siero non associato a ceruloplasmina
aumento della concentrazione urinaria di rame
scariche epilessiformi multifocali
elettroencefalogramma con attività focale lenta
elettroencefalogramma con attività multifocale lenta
elettroencefalogramma con attività lenta generalizzata
elettroencefalogramma con persistente anomala attività ritmica
elettroencefalogramma con complessi spike-wave
elettroencefalogramma con complessi spike-wave
elettroencefalogramma con complessi spike-wave
elettroencefalogramma con complessi spike-wave
elettroencefalogramma con soppressione di scoppio
elettroencefalogramma con risposta fotoparossismale
elettroencefalogramma con scariche epilessiformi lateralized periodici
elettroencefalogramma con attività generalizzata di bassa ampiezza
elettroencefalogramma con attività localizzate di bassa ampiezza
elettroencefalogramma con complessi periodici
elettroencefalogramma con anomalie periodiche
elettroencefalogramma con gli scariche epilessiformi iperventilazione indotta
presentazione podalica franca
presentazione podalica completa
presentazione podalica incompleta
ritardo dello sviluppo motorio fine
ritardo del linguaggio ricettivo
disabilità intellettuale, grave
disturbo oppositivo-provocatorio
difetto della parete addominale
dissinergia
dissinergia ocularie
asinergia
atassia sensitiva
EKG: inversione della T-wave
atrofia del midollo spinale cervicale
xantomatosi del tendine
riflesso di Chaddock
anomalia del livello di proteina in circolazione
strabismo unilaterale
igroma cistico fetale
igroma cistico postnatale
traslucidità nucalel aumentata
anomalia del cordone ombelicale
atresia della valvola polmonare
atresia della valvola aortica
acromelia
necrosi asettica
osteocondrosi dissecante
Osteocondrite dissecante
Morbo di Koehler
Morbo di Kienboeck
Morbo di Osgood-Schlatter
Sindrome di osgood-schlatter
Morbo di Scheuermann
anomalia del metabolismo degli amminoacidi a catena ramificata
anomalia del metabolismo della fenilalanina
anomalia del metabolismo della famiglia amminoacidica della serina
anomalia del metabolismo di glicina
ipersarcosinemia
ipersarcosinuria
anomalia del metabolismo della sarcosina
anomalia del metabolismo della famiglia amminoacidica dell'aspartato
anomalia del metabolismo della treonina
anomalia del metabolismo della metionina
anomalia del metabolismo della famiglia amminoacidica della glutammina
anomalia del metabolismo della glutammina
anomalia del metabolismo della famiglia aminoacidica dell'istidina
iperistidinemia
anomalia del metabolismo della prolina
anomalia del metabolismo della lisina
anomalia del metabolismo della arginina
ipervalinemia
iperleucinemia
anomalia del metabolismo dell'isoleucina
iperisoleucinemia
anomalia del metabolismo della valina
anomalia del metabolismo del piruvato
anomalia del metabolismo dell'alanina
anomalia del metabolismo della tirosina
anomalia del metabolismo della cisteina
anomalia del metabolismo dell'omocisteina
cataratta zonulare
cataratta coralliforme
cataratta membranosa
cataratta sottocapsulare anteriore
cataratta corticale posteriore
cataratta punctata nucleare
cataratta aculeiforme
anomalia dell'omeostasi dei cationi inorganico bivalenti
anomalia del metabolismo acido orotico
anomalia dell'omeostasi dei cationi
anomalia dell'omeostasi dei cationi inorganici monovalenti
anomalia dell'omeostasi del sodio
anomalia del metabolismo di base azotata
anomalia del metabolismo della xantina
xantinuria
anomalia del tratto urinario superiore
anomalia delle vie urinarie inferiori
anomalia dello scheletro nasale
anomalia del naso esterno
anomalia dell'osso nasale
aplasia
ipoplasia dell'osso nasale
aplasia dell'osso nasale
focus intracardiaco ecogenico
viscere ecogeniche fetali
anomalia della pelvi renale
pielectasi fetale lieve
dilatazione della pelvi renale
anomalia del flusso di sangue nel dotto venoso
anomalia del sistema cardiovascolare fetale
anomalia del flusso sanguigno della vena ombelicale
anomalia del quarto ventricolo
anomalia del terzo ventricolo
lieve ventricolomegalia fetale
idrocefalia non-comunicante
cuore destro ipoplasico
dilatazione della vescica
megacisti fetale
valvola uretrale posteriore congenita
agenesia renale bilaterale
malformazione congenita cistica adenomatoide del polmone
sequestro broncopolmonare
sequestro intralobare
sequestro extralobare
assenza della bolla di stomaco sull'ecografia fetale
anomalia del metabolismo di acidi grassi a catena lunga
anomalia del metabolismo acido fitanico
anomalia del metabolismo degli acidi grassi anione
anomalia del metabolismo della carnitina
anomalia del metabolismo liposaccaride
anomalia del metabolismo del glicolipide
anomalia dell'antigene del gruppo sanguigno
assenza dell'antigene luterano sugli eritrociti
anemia da produzione insufficiente
anomalia dei leucociti mieloide
anomalia del numero delle cellule B
linfocitopenia B
anomalia dei fagociti
anomalia della fisiologia del sistema immunitario
anomalia del livello di colesterolo lipoproteico
iperlipidemia
ipolipoproteinemia
eredità poligenica
ereditarietà oligogenica
ereditarietà digenica
ereditarietà gonosomale
anomalia del sistema immunitario cellulare
anomalia della via metabolica estrinseca
anomalia della via metabolica intrinseca
anomalia della via comune della coagulazione
anomalia della muscolatura addominale
incontinenza urinaria da stress
anomalia della subcorteccia cerebrale
anomalia dello striato
anomalia del metabolismo dell'acido dicarbossilico
anomalia del metabolismo dell'acido monocarbossilico
rottura cromosomica indotta da radiazioni ionizzanti
aumentata suscettibilità alla sorella spontanea scambio di cromatidi fratelli
aplasia del tratto ottico
aplasia
ipoplasia del tratto ottico
densità minerale ossea aumentata
osteopetrosi
miopia grave
anomalia dell'albero arterioso sistemico
cirrosi mista
anomalia della muscolatura del collo
velocità di insorgenza
acuta
cronica
subacuta
anomalia del metabolismo dei polisaccaridi
anomalia del metabolismo
omeostasi dei carboidrati
omeostasi anormale del glucosio
anomalia della concentrazione di glucosio del sangue
anomalia della concentrazione di glucosio nell'urina
anomalia della fisiologia cellulare
anomalia del ciclo cellulare
anomalia della condensazione dei cromosomi
anomalia del metabolismo dei mucopolisaccaridei
anomalia del livello di enzimi circolanti
anomalia del metabolismo degli acidi grassi insaturi
anomalia del metabolismo della prostaglandina
anomalia del tratto gastrointestinale
Disturbo gastrointestinale
anomalia della fisiologia del sistema cardiovascolare
aplasia
ipoplasia della vagina
anomalia delle tube di Falloppio
anomalia della circolazione sanguigna
emorragia interna
anomalia dell'omeostasi cazione elemento di transizione
anomalia dell'omeostasi del ferro
anomalia della regolzione dei fluidi
compromissione del metabolismo del fruttosio
amiloidosi
anomalia della corteccia renale
anomalia di escrezione renale
diminuita produzione di urina
anomalia di riassorbimento renale
anomalia dell'elica
anomalia del dotto biliare intraepatico
aplasia
ipoplasia del rachide cervicale
anomalia dell'omeostasi del potassio
anomalia di livello adrenocorticotropina in circolazione
numero abnorme di denti permanenti
agenesia dell'incisivo centrale mascellare permanente
agenesia dell'incisivo centrale mascellare primario
agenesia dell'incisivo centrale mandibolare primario
agenesia dell'incisivo centrale mandibolare permanente
agenesia dell'incisivo laterale mascellare primario
agenesia dell'incisivo laterale mascellare permanente
agenesia del premolare
agenesia del premolare mascellare
agenesia del premolare mandibolare
agenesia del molare
agenesia del molare permanente
agenesia del primo molare permanente
agenesia del secondo molare permanente
periodontite generalizzata
parodontite localizzata
dentinogenesi imperfetta e limitata ai denti primari
anomalia della struttura dentale
disallineamento degli incisivi
anomalia della morfologia dell'incisivo
numero abnorme di incisivi
incisivo conico
mesiodens
odontoma
aumentato numero dei denti
anomalia della morfologia molare
anomalia della morfologia molare permanente
denti senza radici
anomalia del colore dentale
ipoplasia localizzata dello smalto dentale
verde denti
anomalia del premolare
anomalia del molare
anomalia di canino
dente incastrato
anomalia della morfologia premolare
macrodonzia dell'incisivo
incisivo primario conico
incisivo conico mascellare
ipocalcificazione dello smalto dentale
smalto dentale ipomature
dentinogenesi imperfetta dei denti primari permanente
orlo ad artiglio
dens in dente
doppio dente
denti fusi insieme
geminazione
gelso molare
molarizzazione del premolare
overbite
overjet
demielinizzazione periferica
spasmi epilettici
aprassia di discorso
emiplegia spastica
atresia intestinale
atresia ileale
anomalia del tratto di efflusso del ventricolo sinistro
anomalia dell'omeostasi del volume di sangue
ipervolemia
ipovolemia
stomatite aftosa ricorrente
sinusite ricorrente
sinusite cronica
tonsillite
anomalia della fisiologia di proteina del siero immune
anomalia del livello di citochine del siero
anomalia della secrezione di citochine
difettosa produzione di citochine NFKB1-dipendente
anomalia della secrezione di chemochine
anomalia della secrezione di interferone
anomalia della secrezione di interleuchina
anomalia della secrezione del fattore di necrosi tumorale
anomalia del dorso nasale
naso a sella
anomalia della morfologia della pelle
anomalia della fisiologia della pelle
anomalia infiammatoria della pelle
anomalia della morfologia epidermica
anomalia di melanosomi dermico
nefroptosi
eczema periorale
necrosi esofagea acuta
pielectasi fetale bilaterale
anomalia della morfologia del calice renale
eruzione cutanea perianale
foruncolosi cronica
aumentata sensibilità alle radiazioni ionizzanti
febbricola
aplasia
ipoplasia delle ghiandole sudoripare
aplasia delle ghiandole sudoripare
orticaria non-pruriginosa
anomalia degli annessi della pelle
duplicazione gastrica
duplicazione gastrointestinale
cataratta senile
cataratta nucleare senile
cataratta corticale senile
cataratta subcapsulare posteriore età-correlate
epilessia sintomatica
convulsioni dialeptiche
convulsioni tipiche da assenza
convulsioni di assenza con caratteristiche particolari
convulsioni di assenza con mioclonia palpebrale
assenze miocloniche
stato di ottundimento
convulsioni da assenza ad esordio precoce
convulsioni focali motore
convulsioni focali autonomiche
convulsioni focali autonomiche con reattività alterata
convulsioni focali autonomici senza reattività alterata
aure
aure uditive
aure epigastriche
aure gustative
aure olfattive
aure psichiche
aure somatosensoriali
aure vegetative
aure visive
convulsioni miocloniche focali
convulsioni toniche focali
mioclonie palpebrali
convulsioni cloniche generalizzate
crisi miocloniche atoniche
convulsioni febbrili semplici
convulsioni febbrili complesse
convulsioni ipocinetiche
convulsioni ipercinetiche
convulsioni versive
elettroencefalogramma con varianti costituzionali
elettroencefalogramma con attività di fondo di 4-5 al secondo
alfa-elettroencefalogramma
beta-elettroencefalogramma
parziale beta-elettroencefalogramma
elettroencefalogramma a bassa tensione
scariche epilessiformi all'elettroencefalogramma
elettroencefalogramma con scariche epilessiformi focale indotte da iperventilazione
elettroencefalogramma con iperventilazione indotta generalizzatascariche epilessiformi
elettroencefalogramma con scariche epilessiformi focale
scariche epilessiformi focale con propagazione limitata all'emisfero controlaterale
scariche EEG focale con propagazione all'emisfero ipsilaterale
scariche EEG focali con generalizzazione secondaria
scariche epilessiformi multifocale bilaterale
scariche epilessiformi multifocale mono e bilaterali
scariche epilessiformi multifocale unilaterale
scariche epilessiformi focale polimorfico
elettroencefalogramma con picchi focali
elettroencefalogramma con serie di picchi focali
elettroencefalogramma con onde lente acute
elettroencefalogramma con onde acute focale
elettroencefalogramma con onde focali a picco
elettroencefalogramma con scariche epilessiformi generalizzati
elettroencefalogramma con onde lente acute generalizzate
elettroencefalogramma con scariche epilessiformi polimorfiche generalizzate
elettroencefalogramma con cambiamenti nel voltaggio
elettroencefalogramma con accelerazione diffusa
elettroencefalogramma con frequenze anormalmente lente
elettroencefalogramma con attività continua lenta
elettroencefalogramma con attività lenta intermittente
elettroencefalogramma con attività generalizzata lenta di grado 1
elettroencefalogramma con attività generalizzata lenta di grado 2
elettroencefalogramma con attività generalizzata lenta di grado 3
elettroencefalogramma con attività generalizzata lenta di grado 4
elettroencefalogramma con rallentamento occipitale
elettroencefalogramma con risposta fotoparossismale di grado I
elettroencefalogramma con risposta fotoparossismale di grado II
elettroencefalogramma con risposta fotoparossismale di grado III
elettroencefalogramma con risposta fotoparossismale di grado IV
emipsaritmia
forma anormale dell'osso occipitale
forma anomala della regione frontale
faccia corta
fronte prominente
pieghe verticali sulla fronte
glabella depressa
depressione metopica
ablefaria
epiblefaria
aplasia
ipoplasia che coinvolgono la palpebra
livello elevato della proteina C-reattiva
sopracciglio orizzontale
ampio sopracciglio
sopracciglio lateralmente esteso
ciglia prominente
ripiegamento infraorbitale
mensola antielica
antielica assente
cru aggiuntiva dell'antielica
antielica angolata
ampio cru inferiore dell'antielica
crus inferiore prominente dell'antielica
crus inferiore sottosviluppata dell'antielica
asse prominente dell'antielica
asse serpiginoso dell'antielica
asse sottosviluppato dell'antielica
anomalia della cru inferiore dell'antielica
anomalia dell'asse dell'antielica
anomalia del cru superiore dell'antielica
cru superiore sottosviluppata dell'antielica
crus superiore prominente dell'antielica
antitrago anteverso
antitrago assente
antitrago bifido
antitrago sottosviluppato
criptotia
criptotia di tipo I
criptotia di tipo II
cru dell'elica assente
cru dell'elica collegata ad antielica
cru serpiginosa dell'elica
ponte tragale della cru dell'elica
parte terminale espansa dei cru di elica
tacca di Darwin dell'elica
tubercolo di Darwin dell'elica
elica ondulata
lobo dell'orecchio che si affaccia in avanti
radice ascendente dell'elica discontinua
schisi del lobo dell'orecchio
microtia, primo grado
microtia, terzo grado
trago assente
trago bifido
trago duplicato
trago prominente
trago sottosviluppato
anisocitosi
ricorrenti infezioni micobatteriche
infezioni complesse e ricorrenti da mycobacterium di avium
anomalia vascolare della pelle
anomalia della fisiologia del sistema urinario
sequestro intrapolmonare
anomalia della concentrazione di bicarbonato nell'urina
anomalia della concentrazione di calcio nell'urina
anomalia della concentrazione di catecolamine urinarie
anomalia del rombencefalo
anomalia del metencefalo
megacolon aganglionico a segmento corto
lungo-segmento aganglionico megacolon
aganglionosi colica totale
elettroencefalogramma con onde lente strette occipitali
elettroencefalogramma con onde lente strette parietali
elettroencefalogramma con onde lente strette temporali
elettroencefalogramma con onde lente strette frontali
elettroencefalogramma con onde lente strette centrali
elettroencefalogramma con ondulazioni occipitali
elettroencefalogramma con onde tagliente centrali
elettroencefalogramma con onde strette frontali
elettroencefalogramma con onde strette parietali
elettroencefalogramma con onde strette temporali
anomalia delle dita
cuscinetto prominente del dito
assenza parziale di dito
ampio polpastrello
piede assente
palmo della mano lungo
contorno convesso della pianta del piede
pollice largo
assenza parziale della punta del piede
dita  allargate dei piedi
dita del piede sottili
dita del piede affusolate
creste palmari con ponti
piega di Sydney
unghie fuse
unghia stretta
anomalia della morfologia delle ossa lunghe
sinostosi unicoronali
sinostosi unicoronale a sinistra
sinostosi unicoronale a destra
sinostosi bicoronale
sinostosi bilambdoide
sinostosi unilambdoide
sinostosi unilambdoide a sinistra
sinostosi unilambdoide a destra
schisi del mento
craniosinostosi con suture multiple
pansinostosi
plagiocefalia anteriore
plagiocefalia posteriore
anomalia delle fontanelle
anomalia delle suture craniche
sinostosi metopica
atrofia emifacciale
Sindrome di parry-romberg
ipoplasia emifacciale
faccia piangente asimmetrica
deformazione della forma facciale
irsutismo frontale
segni forciformi bitemporali
anomalia della dimensione della bocca
anomalia della forma della bocca
anomalia del vermiglio del labbro superiore
incompleta schisi del labbro superiore
labbro superiore lungo
lieve ritardo dello sviluppo globale
moderato ritardo dello sviluppo globale
grave ritardo dello sviluppo globale
moderare ritardo nel linguaggio espressivo
ritardo lieve nel linguaggio espressivo
anomalia dell'adduzione oculare
anomalia del sesto nervo cranico
paralisi del nervo abducente
ritardo lieve nel linguaggio ricettivo
moderato ritardo nel linguaggio ricettivo
ritardo severo nel linguaggio ricettivo
fibrosi intima arteriosa
anomalia della pelle generalizzata
localizzata la lesione cutanea
anomalia regionale della pelle
anomalia della densità dei capelli
ipopigmentazione dei capelli generalizzata
capelli secchi
pattern acquisito anomalo dei capelli
pattern congenito anomalo dei capelli
quantità anormale dei capelli
anomalia del tasso di crescita dei capelli
capelli bianchi
ipopigmentazione a chiazze di capelli
unghie gialle
ispessimento epidermico
chiazza blu mongola
infezioni fungine cutanee ricorrenti
infezioni cutanee virali ricorrenti
aplasia dell'orecchio interno
partizione incompleta della coclea
partizione incompleta della coclea tipo I
aplasia della coclea
anomalia morfologica del vestibolo dell'orecchio interno
aplasia del vestibolo
ipoplasia del vestibolo dell'orecchio interno
vestibolo dilatato dell'orecchio interno
anomalia morfologica del canale semicircolare
aplasia del canale semicircolare
ipoplasia del canale semicircolare
canale semicircolare ampliato
anomalia del canale uditivo interno
canale uditivo interno assente
canale uditivo interno stretto
aquedotto vestibolare allargato
acquedotto cocleare allargato
anomalia funzionale dell'orecchio interno
anomalia morfologica dell'orecchio interno
anomalia morfologica dei nervi dell'orecchio interno
anomalia del nervo vestibolare
aplasia del nervo vestibolare
ipoplasia del nervo vestibolare
aplasia
ipoplasia della coclea
anomalia del nervo cocleare
anomalia della colonna dorsale del midollo spinale
ipotonia centrale
atrofia tibiale
mielinizzazione anormale del Sistema Nervoso Centrale
mielinizzazione periferica ritardata
demielinizzanti neuropatia sensitiva
vasi sanguigni del cordone ombelicale anormali
bassa statura da tronco breve, letale
bassa statura con arti corti ad esordio giovanile
bassa statura con arti corti ad esordio infantile
alta statura proporzionata
moderato ritardo di crescita intrauterino
anomalia delle membrane placentari
taglio cesareo
parto con forcipe
parto con ventose
distocia della spalla
placenta idropica
placenta calcificata
infarto placentale
cordone ombelicale lungo
anomala inserzione del cordone ombelicale
Vasa praevia
distacco intempestivo placentare
morte
morte in adolescenza
anomalia dell'omeostasi del cloruro
ipercloremia
aumentato livello di zinco nel siero
marcatore leggero all'ecografia fetale
cisti del plesso coroideo fetale
cisterna magna fetale allargata
breve lunghezza del femore fetale
breve lunghezza dell'omero fetale
ipoplasia dell'osso nasale fetale
clinodattilia del quinto dito nel feto
alfa-fetoproteina del siero materno alta
alti livelli di gonadotropina corionica nel siero materno
bassi livelli di gonadotropina corionica nel siero materno
bassi livelli di PAPP-A nel siero materno
screening anormale del siero materno
malattia autoimmune materna
esposizione materna ad agenti teratogeni
rabdomilosi indotta da anestetico
rabdomiolisi indotta da alcol
anormalità del midollo allungato
anomalia della funzione motoria centrale
anomalia nella coordinazione
rigidità decorticate
paralisi cerebrale atetoide
anomalia della funzione mentale superiore
iposegmentazione dei nuclei dei neutrofili
contrazioni cloniche della caviglia
contrazioni cloniche ginocchio
infezione del Sistema Nervoso Centrale
microcefalia congenita
anomalia funzionale dell'orecchio medio
anomalia dell'incudine
anomalia del martello
martello assente
staffa assente
perdita di ciglia
sintomo addominale
carcinoma esofageo
esordio embrionale
insorgenza fetale
esordio nel giovane adulto
esordio nell'infanzia
aganglionosi del intestino tenue
aganglionosi duodenale
aplasia
ipoplasia della cistifellea
assente della cistifellea
tic facciali
rigurgito nasale
sondino nasogastrico per l'alimentazione nell'infanzia
gastrostomia per l'alimentazione nell'infanzia
anomalia della morfologia dei villi dell'intestino tenue
atrofia dei villi
sordità neurosensoriale ad insorgenza infantile
arteria stapediale persistente
sordità neurosensoriale profonda
nistagmo con battito all'insu
anoftalmia vera
anomalia del punctum lacrimale
microftalmo unilaterale
anomalie del dotto lacrimale
anomalia della ghiandola lacrimale
sinechie anteriori della camera anteriore
sinechie posteriori della camera anteriore
adesione corneolenticolare
anomalia dello spessore corneale
aumentato spessore corneale
anomalia dell'endotelio corneale
anomalie della migrazione dell'endotelio corneale
anomalia della membrana di Descemet
ridotto numero di cellule endoteliali corneali
anomalia dello stroma corneale
opacizzazione centrale della cornea
opacamento della cornea generalizzata
anomalia dell'epitelio corneale
neovascolarizzazione corneale
neovascolarizzazione dell'iride
aniridia parziale
midriasi
policoria
lenticonus anteriore
lenticonus posteriore
aplasia della fovea
maculopatia ad occhio di bue
edema cistoide maculare
neovascolarizzazione coroidale della macula
macchie maculari
foro maculare
iperpigmentazione maculare
drusen
schisi maculare
iperpigmentazione del fundus
angioma cavernoso retinico
anomalia della visione binoculare
stereossi anormale
monocromatismo dei bastoncelli
monocromatismo dei coni
dicromatismo
tricromatismo anomalo
deuteranomolia
deuteranopia
protanopia
ciste all'iride
melanoma dell'iride
nevo dell'iride
anomalia della forma della lente
lentiglobus
ipertrofia congenita singola isolata dell'epitelio pigmentato della retina
ipertrofia congenita multipla bilaterale dell'epitelio pigmentato della retina
foro retinico
vitreite
essudato subretinale
degenerazione retinica a fiocco di neve
orientamento spaziale anormale dei segmenti cardiaci
arrangiamento atriale anomalo
isomerismo atriale di destra
isomerismo atriale di sinistra
situs inversus atriale
situs atriale ambiguo
trasposizione delle grandi arterie congenitamente corretta
valvole atrioventricolari quot;criss-crossquot;
quot;criss-crossquot; atrioventricolare e ventricoli superiore-inferiore
ventricoli superiori-inferiori senza valvole atrioventricolari criss-cross
ansa ad L del ventricolo destro
connessione anormale dei segmenti cardiaci
connessione atrioventricolare anomala
connessione atrioventricolare sinistra assente
connessione atrioventricolare destra assente
cuore univentricolare con connessione atrioventricolare sinistra assente
cuore biventricolare con valvola atrioventricolare destra inforcata e connessione atrioventricolare sinistra assente
atrio a destra, ventricolo a sinistra e connessione atrioventricolare sinistra assente
connessione atrioventricolare ambigua
connessione atrioventricolare discordante
connessione atrioventricolare a doppia entrata
ventricolo sinistro a doppia entrata
ventricolo destro a doppia entrata
doppia entrata al singolo ventricolo a morfologia indeterminata
doppia entrata al singolo ventricolo con orifizio atrioventricolare comune
doppia entrata al singolo ventricolo con due valvole atrioventricolari
atresia mitralica
affaticamento della valvola atrioventricolare
accavallamento delle valvole atrioventricolari
anomala connessione ventricolo-arteriosa
arcata valvolare mitrale
atrio comune
cor triatriatum dexter
difetto del seno venoso del setto atriale
doppio orifizio della valvola mitrale
schisi anteriore della valvola mitrale
stenosi mitralica congenita
valvola mitrale a paracadute
anello sopramitrale
ipoplasia tricuspidale
valvola atrioventricolare  non perforata
valvola tricuspide non perforata
difetto intermedio del canale atrioventricolare
difetto parziale del canale atrioventricolare
difetto transitorio del canale atrioventricolare
difetto sbilanciato del canale atrioventricolare
brevi corde tendinee della valvola mitrale
ventricolo sinistro a doppia uscita
ectopia cordis addominale
ectopia cordis cervicale
ectopia cordis toracocervicale
ectopia cordis toracica
ectopia cordis toracoaddominale
pattern di ramificazione anormale dell'arco aortico
arco aortico cervicale
origine comune dell'arteria brachiocefalica di destra e dell'arteria carotidea comune sinistra
doppio arco aortico
arco aortico a sinistra con origine cervicale dell'arteria succlavia destra
arco aortico a sinistra con arteria succlavia isolata
arco aortico a sinistra con diverticolo retroesofageo di Kommerell
arco aortico a destra con diverticolo retroesofageo di Kommerell
arco aortico a sinistra con arteria succlavia destra retroesofagea
arco aortico a sinistra con aorta discendente a destra e ductus arteriosus a destra
arco aortico di destra con aorta discendente a sinistra e dotto anteriore a sinistra
arco aortico di destra con arteria succlavia retroesofagea sinistra
mesocardia
direzione anormale dell'apice ventricolare
verso destra direzione dell'apice ventricolare
direzione della linea mediana dell'apice ventricolare
malformazione congenita delle grandi arterie
finestra aortopolmonare
trasposizione congenitamente corretta delle grandi arterie con difetto del setto ventricolare
trasposizione delle grandi arterie con setto ventricolare intatto
trasposizione delle grandi arterie con difetto del setto ventricolare
tronco arterioso di tipo II
tronco arterioso di tipo III
tronco arterioso di tipo IV
arco aortico interrotto
arco aortico interrotto di tipo A
arco aortico interrotto di tipo B
arco aortico interrotto di tipo C
anomalia di situs polmonare
situs inversus polmonare
situs ambiguus polmonare
Situs polmonare ambiguo con polmone destro a morfologia bilaterale
Situs polmonare ambiguo con polmone sinistro a morfologia bilaterale
anomalia del situs addominale
difetto settale ventricolare Gerbode
difetto settale ventricolare ad insenatura
difetto del setto interventricolare muscolare
difetto del setto interventricolare muscolare apicale
difetti muscolari multipli del setto ventricolare
sidrome della scimitarra
Sindrome della scimitarra
tunnel aorto-ventricolare
difetto congenito del pericardio
totale assenza del pericardio
completa assenza diaframmatica del pericardio
destra parteggiato assenza completa di pericardio
parziale assenza del pericardio a destra
completa assenza del pericardio a sinistra
completa assenza del pericardio a sinistra
parziale assenza diaframmatica del pericardio
origine anomala delle arterie coronarie
origine anomala dell'arteria coronaria dall'arteria polmonare
origine anomala dell'arteria coronaria sinistra dall'arteria polmonare
origine anomala dell'arteria coronaria destra dall'arteria polmonare
singola origine dell'arteria coronaria
fistola coronarica
anomalia del seno coronarico
difetto del setto atriale del seno coronarico
diverticolo del seno coronarico
aneurisma seno di Valsalva
coartazione giustaduttale dell'aorta
postductal coartazione dell'aorta
ductus arteriosus evidente dopo la nascita a termine
ductus arteriosus evidente dopo la nascita prematura
ductus arteriosus bilaterale
ventricolo destro a doppia uscita con difetto del setto ventricolare doppiamente impegnato e stenosi polmonare
ventricolo destro a doppia uscita con difetto del setto ventricolare doppiamente impegnato senza stenosi polmonare
ventricolo destro a doppia uscita con difetto del setto ventricolare non impegnato e stenosi polmonare
ventricolo destro a doppia uscita con difetto del setto ventricolare non impegnato senza stenosi polmonare
ventricolo destro a doppia uscita con difetto del setto ventricolare subaortico e stenosi polmonare
ventricolo destro a doppia uscita con difetto subaortico settale ventricolare senza stenosi polmonare
ventricolo destro a doppia uscita con difetto del setto ventricolare subpolmonare e stenosi polmonare
ventricolo destro a doppia uscita con difetto del setto ventricolare subpolmonare senza stenosi polmonare
tetralogia di Fallot con assenza di valvola polmonare
origine anomala di un'arteria polmonare da ascendente aorta
origine anomala dell'arteria polmonare di sinistra da ascendente aorta
atresia della tricuspide
cardiomiopatia ventricolare di destra
cardiomiopatia da non-compattazione
cardiomiopatia di Takotsubo
agenesia della vena cava superiore destra
vena cava superiore bilaterale con vena di collegamento
vena cava superiore bilaterale senza vena di collegamento
vena cava superiore drenante direttamente all'atrio sinistro
a sinistra della vena cava superiore drenante al seno coronario
vena cava inferiore interrotta con continuazione azygosa
mixoma cardiaco
emangioma cardiaco
teratoma cardiaco
aritmia
tetralogia di Fallot con assente conus subarterial
tetralogia di Fallot con difetto del canale atrioventricolare
tetralogia di Fallot con atresia polmonare e arterie collaterali principali Aortopolmonare
tetralogia di Fallot con stenosi polmonare
ventricolo unico dalla morfologia indeterminata
difetto settale ventricolare subarteriale
difetto settale ventricolare perimembranoso
difetto settale ventricolare restrittivo
difetto settale ventricolare non-restrittivo
vena cava superiore infra-aortica
corso anomalo dell'arteria coronarica
tachicardia nodale AV
tachicardia sopraventricolare mediata da via accessoria
tachicardia sopraventricolare con una connessione nascosta accessoria
tachicardia giunzionale reciprocante permanente
tachicardia sopraventricolare con una via accessoria nascosta sulla parete sinistra libera
tachicardia sopraventricolare con una via accessoria nascosta sulla parete destra libera
tachicardia sopraventricolare con una via accessoria nascosta sul setto
tachicardia sopraventricolare con una via accessoria manifesta
emorragia cerebellare
tachicardia sopraventricolare con una via accessoria manifesta sulla parete sinistra libera
tachicardia sopraventricolare con una via accessoria manifesta a destra parete libera
tachicardia sopraventricolare con una via accessoria manifesta sul setto
tachicardia da rientro atriale
tachicardia atriale automatica
tachicardia atriale multifocale
Tachicardia atriale focale
elettrofisiologia anormale dell'origine del nodo senoatriale
tachicardia sinusale
sindrome del seno malato
blocco atrioventricolare di primo grado
blocco atrioventricolare di secondo grado
blocco atrioventricolare Mobitz I
blocco atrioventricolare Mobitz II
dissociazione atrioventricolare
blocco di branca
blocco fascicolare anteriore sinistro
blocco di branca destra
blocco di branca sinistro
lesioni Libman-Sacchi
blocco trifascicolare
tachicardia giunzionale ectopica
tachicardia da rientro AV
anomalia delle vene polmonari
ritorno venoso anomalo polmonare totale, varietà sopracardiaca
ritorno venoso anomalo polmonare totale, varietà cardiaca
ritorno venoso anomalo polmonare totale, varietà infracardiaca
misto di collegamento venoso polmonare anomalo totale
malformazione congenita del cuore destro
anomalia di Uhl
tachicardia caotica atriale multifocale
circolazione fetale persistente
debolezza muscolare peroneale
clonus del gomito
anomalia della mobilità articolare
anomalia della funzione sensoriale centrale
anomalia del livello di cortisolo in circolazione
anomalia della morfologia surrenale
anomalia della fisiologia surrenale
insufficienza surrenale centrale
insufficienza surrenale da carenza di adrenocorticotropina
iperaldosteronismo primario
insufficienza surrenale da carenza di ormone rilasciante la corticotropinaormone
difetto del recettore  dell'ormone rilasciante la corticotropina
iperaldosteronismo primario sopprimibile con Dexamethasone
iperaldosteronismo primario glucocortocoidi-insensibile
iperaldosteronismo secondario
ghiandola surrenale ectopica
agenesia della ghiandola surrenale
ipercorticolismo secondario
adenoma corticosurrenale non-secretivo
adenoma corticosurrenale secretivo
anomalia dell'ipofisi anteriore
deficit di ormone adrenocorticotropo
eccesso di ormone adrenocorticotropo
neoplasia dell'ipofisi anteriore
anomalia dell'ipofisi posteriore
neoplasia dell'ipofisi posteriore
disgenesia pituitaria posteriore
pituicitoma
ectopico ipofisi posteriore
agenesia ipofisaria posteriore
ipoplasia ipofisaria posteriore
adenoma pituitario acidofilico  da cellule staminali
adenoma pituitario da cellule gonadotropiche
adenoma pituitario da cellule dell'ormone della crescita
adenoma pituitario da cellule null
adenoma pituitario da cellule tirotropiche
carcinoma della ghiandola pituitaria
ipofisi Fusocellulare oncocitoma
anomalia della morfologia delle paratiroidi
anomalia della fisiologia delle paratiroidi
disgenesia delle paratiroidi
paratiroide ectopica
iperparatiroidismo terziario
ipoparatiroidismo autoimmune
anomalia della morfologia della tiroide
gozzo uninodulare
adenoma follicolare della tiroide
adenoma macrofollicolare della tiroide
adenoma microfollicolare della tiroide
adenoma papillare della tiroide
atipico adenoma della tiroide
carcinoma anaplastico della tiroide
emiagenesi della tiroide
iperplasia delle cellule della tiroide c
crisi tiroidea
tireotossicosi da tessuto tiroideo ectopico
tireotossicosi con gozzo diffuso
tireotossicosi con gozzo multinodulare tossico
tireotossicosi con nodulo tiroideo singolo tossici
ipotiroidismo centrale
aumentato livello di ormone T3 nel siero
difetto del recettore dell'ormone tiroido-stimolante
difetto di attivazione del recettore dell'ormone tiroido-stimolante
difetto di inattivazione del recettore dell'ormone tiroido-stimolante
neoplasma da istologia
neoplasia da sito anatomico
neoplasia renale Embryonal
intralobar nefroblastomatosi
perilobar nefroblastomatosi
tipo di carcinoma renale papillare delle cellule 1
oncocitoma renale
anomalia dei tessuti molli facciali
retrusion mediofacciale
ingrossamento della ghiandola parotidea
amartoma della lingua
naso bifido
anomalia della fisiologia muscolare
anomalia della morfologia muscolare
digitare 1 fibra muscolare atrofia
diminuzione riflesso rotuleo
miotonia paradossale
alterata discriminazione di due punti
tocco alterata localizzazione
agraphesthesia
aumentato lipofuscina cerebrale
aumento ipoxantina urinaria
cephalocele
encefalocele parietale
encefalocele basale
encefalocele nasofrontale
submucoso schisi palato molle
atresia coanale membranosa
anomalia dello scheletro facciale
ampia mento
mento con piega orizzontale
mento con piega a forma di H
tented philtrum
philtrum con Rafe mediano
rima buccale deviata
seno di Midline di philtrum
philtrum stretto
anomalia della mucosa orale
punta nasale deviata
punta nasale stretta
punta del naso sporgente
fenomeno di Moyamoya
assente scafoide
ritardata ossificazione dell'astragalo
deficit parziale di IgA
sclerodattilia
anomalia del numero delle cellule T
anomalia della fisiologia delle cellule T
flutter ventricolare
anomalia della morfologia scheletrica
anomalia della fisiologia scheletrico
anomala morfologia dello scheletro appendicolare
breve secondo metatarso
osteoblastoma
tumore gigante delle cellule dell'osso
colica addominale
ossificazione anomala dell'osso
parotite
emopericardio
chilopericardio
versamento pericardico sieroso
emoperitoneo
edema della faringe
pica
plasmocitoma
ridotta attività del fattore IX
cheratite punteggiata
pezzatura metafisaria
polmoni bilaterali trilobate
morfologia della fibrilla collagene di osso anormale
anormale ossificazione sternale
pirofosfato di elevata del plasma
anomalia dell'ala di ilium
sciatica
anomalie della funzione piastrinica
ridotta aggregazione piastrinica indotta da acido arachidonico
ridotta aggregazione piastrinica indotta dalla ristocetina
ridotta aggregazione piastrinica indotta da trombina
conta piastrinica anormale
trompocitopenia eparina-indotta
morfologia piastrinica anormale
volume piastrinica anormale
volume piastrinico medio aumentato
espressione di proteine di membrana piastrinica anormale
diminuito glicoproteina piastrinica Ib-IX-V
coagulazione intravascolare disseminata acuta
diminuita VI glicoproteina piastrinica
diminuito del recettore piastrinico P2Y12
granuli piastrinica anormale
moncone ombelicale anormale sanguinamento
emorragia dell'occhio
iFEMA
emorragia coroideo
sanguinamento che richiede trasfusione di eritrociti
sanguinamento con minore o nessun trauma
prolungato sanguinamento seguendo la procedura
emorragia Post-partum
deficit di vitamina K
conta leucocitaria anormale
ridotta aggregazione piastrinica indotta da agonisti di trombossano A2
anemia dovuta alla ridotta durata di vita delle cellule rosse
emorragia Subconjunctival
neutrophillia
anomalia di circolanti di fibrinogeno
iperfibrinogenemia
ipofibrinogenemia
disfibrinogenemia
emoglobina anomala
emoglobina H
persistenza di emoglobina F
ridotta emoglobina A
rapporto di sintesi ridotta beta o alfa
rapporto di sintesi ridotta alfa
beta
aplasia radiale unilaterale
appiattito teste metacarpali
accorciamento di tutte le falangi delle dita
anomalia del giunto metacarpophalangeo
anomalia della fossa glenoidea
ipertricosi lombare
ipertricosi toracica
calcificazioni cardiovascolari
amiotrofia dell'estensore alluce
quinto dito breve
clinodattilia del quarto dito
empiema pleurico
effusione pleurica Transudative
effusione pleurica essudativa
anormale attività della catena respiratoria mitocondriale
ridotta attività del complesso mitocondriale
diminuita attività mitocondriale complesso III
diminuita attività mitocondriale ATP sintasi complesso
posizionamento prossimale dell'alluce
cifra breve
falange breve prossimale dell'alluce
ipersegmentazione della falange prossimale del terzo dito
pelle della iperestensibilità del torace
anomalia del Peduncolo cerebellare
anomalia del Peduncolo cerebellare superiore
allungato Peduncolo cerebellare superiore
aneurisma dell'arteria mesenterica
diminuito urato urinario
diminuita carnitina totale plasma
ipoplasia delle unghie dei piedi quinto
sindattilia cutanea di 3-4 dito
incuneamento anteriore di T12
incuneamento anteriore di L2
aumentato urinario solfito
aumentato urinario tiosolfato
vasculite dei piccoli vasi
obliterans di Bronchiolitis che organizzano polmonite
Bronchiolite Obliterante
infezione delle vie respiratorie
infezione acuta delle vie respiratorie
polmonite infettiva acuta
bronchiolite
polmonite ab ingestis
polmonite da aspirazione acuta
linfoma polmonare
iperplasia rigenerativa nodulare del fegato
granulomatosi epatica
iperplasia nodulare linfoide intestinale
anomalia del muscolo pettorale
perforazione della retina
ipoplasia unilaterale del muscolo pettorale
gliosi Substantia nigra
azoospermia Non-ostruttiva
azoospermia ostruttiva
azoospermia Pretesticular
spasmi muscolari dolorosi intermittente
anomalia del metabolismo di citrullina
citrullina plasmatiche elevate
ipocupremia
problemi alimentari
elevati dell'ormone luteinizzante
angiopatia amiloide cerebrale
mastocitosi
ipoglicorrhachia
letargia parossistica
mielofibrosi
perdita dell'udito indotta da aminoglicosidi
elevati catecolammine urinarie
elevato acido homovanillic urinaria
elevato acido vanillylmandelic urinaria
elevati di dopamina urinaria
calcoli biliari colesterolo
calcoli biliari di pigmento
calcoli biliari pigmento nero
calcoli biliari pigmento marrone
colecisti Atretic
feci acoliche
ossificazione ectopica
ossificazione ectopica nel tessuto muscolare
ossificazione ectopica nel tessuto tendineo
ossificazione ectopica nel tessuto del legamento
anomalia della fisiologia dei neutrofili
numero di cellulare del neutrofilo anormale
anomalia della morfologia dei neutrofili
alterata attività battericida dei neutrofili
anomalia del setto atriale
aneurisma del setto atriale
elevata attività di fattore V
iperlactemia postprandiale
iperglicemia postprandiale
paranoia
elettroencefalogramma con punte generalizzate
elettroencefalogramma con polispikes generalizzata
aure esperienziali
aure affettive
aure mnemoniche
Deja vu
Jamais vu
aure allucinatorie
aure illusorie
elettroencefalogramma con spike wave focali centrali
elettroencefalogramma con spike wave focali frontali
elettroencefalogramma con spike wave focali occipitali
elettroencefalogramma con spike wave focali parietali
elettroencefalogramma con spike wave focali temporali
elettroencefalogramma con spike focale centrale
elettroencefalogramma con spike focale frontale
elettroencefalogramma con spike focali occipital
elettroencefalogramma con spike focali parietale
elettroencefalogramma con spike focale temporale
lussazione
arco aortico destro
persistente dotto venoso
shunt venoso portosistemico congenito
galattosuria
ipergalattosemia
Galattosemia
anomalia del metabolismo di ornitina
iperornitinemia
edema laringeo
adenoma epatocellulare
anomalia del livello di ormone di urina
aumentato livello di cortisolo urinario
tumore Lipomatoso
lipoma
lipoma sacrale
liposarcoma
steatocistoma multiplex
amiotrofia sternocleidomastoideo
amiotrofia Pectoralis
cornea guttata
pieghe di membrana di Descemet
edema corneale stroma
diminuita fertilità nei maschi
asma indotta da aspirina
nistagmo pendolare
nistagmo altalena
macchie retiniche
areflessia degli arti superiori
emeralopia
distonia oromandibolare
distonia laringea
anasarca
ipoglicemia reattiva
basso livello di calcitriolo  nel siero
basso livello di calcifediolo nel siero
melanoma coroidico
melanoma del corpo ciliare
melanoma cutaneo
melanoma di diffusione superficiale
melanoma nodulare
melanoma di maligna di Lentigo
melanoma acrale lentiginoso
escrezione urinaria di oligosaccaridi sialilato
cisti ossee
ciste aneurismatica dell'osso
cisti ossea unicamerale
lesioni cistiche ossee multiple
aumentata escrezione urinaria disaccaride
glicopeptiduria
aspartilglucosaminuria
escrezione di cheratan solfato nelle urine
escrezione di condroitin solfato nelle urine
anomalia del metabolismo acetilcarnitine
aciduria
profilo acilglicine urinario anormale
pupilla tonica
disturbo della personalità
disturbo della personalità borderline
disturbo istrionico di personalità
blocco di conduzione del motore
anomalia di conduzione del motore centrale
atrofia cerebellare strato granulare
cervelletto allargato
atrofia cerebellare dello strato del Purkinje
corpi di inclusione cerebrali ubiquitina-positivi
anomalia di dimensione della fibra del muscolo scheletrico
piuria
colore urinario anormale
forma mitocondriale anormale
odore urinario anormale
arterite
anomalia della morfologia del pancreas
anomalia della fisiologia del pancreas
anomalia della fisiologia del pancreas esocrino
anomalia della fisiologia del pancreas endocrino
dimensioni pancreas anormale
dislocazione unita Multiple
cisti epidermoidi intracranici
cisti dermoide intracranico
edema del dorso dei piedi
anomalia di livello di catecolamine in circolazione
anormali circolanti a livello della creatinina
diminuzione della creatinina del siero
numero mitocondriale anormale
anomalia del mitocondrio
atrofia corticale parietale
atrofia corticale occipitale
accorciamento rizomelico gamba
diametro maggiorato fibulare
primarie aperte angolo glaucoma
glaucoma ad angolo primario
ipoplasia del ponte
anomalia del livello dei glucocorticoidi in circolazione
anomalia di circolanti a livello di corticosterone
anomalia del metabolismo della creatina
carcinoma dell'endometrio
epatite
livello di albumina anormale
iperalbuminemia
carcinoma laringeo
metaemoglobinemia
aciduria metilmalonica
panuveite
uveite anteriore
uveite posteriore
uveite intermedio
cancro alla prostata
cancro allo stomaco
uraciluria
necrosi dei gangli basali
anomalia delle cellule stromali di midollo osseo
anomalia delle cellule del lignaggio degli eritrociti
numero anomalo di precursori eritroidi
iperplasia eritroide
ipoplasia eritroide
eritropoiesi displastica
anomalia delle cellule del lignaggio granulocitica
granulopoiesi displastica
numero anomalo di precursori dei granulociti
iperplasia granulocitica
ipoplasia granulocitica
anomalia delle cellule della linea linfoide
carcinoma di cellule squamoso pancreatico
anomalia delle cellule del lignaggio dei megacariociti
anomalia delle cellule della monocito
macrofagica
anomalia di più linee di cellule nel midollo osseo
anomalia del fattore di von Willebrand
ridotta quantità di fattore di Von Willebrand
mielodisplasia da linea multipla
mielodisplasia da linea doppia
singola stirpe mielodisplasia
emotorace
foveoschisi
ipotrigliceridemia
anedonia
diminuita sensazione corneale
emofagocitosi
atrofia cerebrale cortico sottocorticale
dissezione dell'arteria carotide
dissezione dell'arteria carotide interna
dissezione dell'arteria carotide interna intracranica
dissezione dell'arteria carotide esterna
dissezione dell'arteria carotide comune
aneurisma dell'arteria carotide
asterissi
oligodattilia
pizzicarsi la pelle
tirarsi i capelli
Tricotillomania
Head-banging
auto-mordersi
mangiarsi le unghie
stretta di mano stereotipata
corpo stereotipata a dondolo
tachicardia ortostatica
glioblastoma multiforme
resistenza alla proteina c attivata
Resistenza alla proteina c attivata
anomalia delle cellule natural killer
fisiologia anormale delle cellule natural killer
ridotta attività delle cellule natural killer
distonia cranio-faciale
necrosi cistica mediale
neuropatia di allettamento
carcinoma a cellule squamose orofaringeo
colica iperplastica
iperalfalipoproteinemia
neuropatia mediana costrittiva
neuropatia da intrappolamento del nervo ulnare al gomito
aumento della concentrazione di protoporfirina eritrocitaria
iperemesi gravidica
linfoma di Hodgkin
linfoma a cellule T
linfoma a cellule B
linfoma a cellula T cutaneo
linfoma anaplastico della gran-cellula
emiplegia episodica
respirazione irregolare
respirazione cheyne-Stokes
insulinoma
poliposi giovanile colica
cefalea a grappolo
anomalia della protrombina
ridotta attività della protrombina
aumento della concentrazione di acidi biliari nel siero
onicomicosi
candidosi Vulvovaginale ricorrente
globozoospermia
motilità anormale
ridotta motilità degli spermatozoi
spermatozoi motili
leucemia mielomonocitica giovanile
morfologia renale anormale
fisiologia renale anormale
anormale di filtrazione glomerulare
diminuita filtrazione glomerulare
aumentata filtrazione glomerulare
microlitiasi testicolare
neuropatia di allettamento del nervo suprascapular
porfobilinogeno urinario è aumentato
sarcoma alveolare delle parti molli
eritema nodoso
granulomatosi di cellule epitelioidi Non caseosi
vesciche Pretibial
aracnoide emangiomatosis
rottura splenica
complessi immuni di circolazione
oligodonzia dei denti primari
teratoma ovarico
stenosi uretrale
cefalea tensiva
pleiocitosi
distacco di retina regmatogeno
distacco essudativo della retina
intervallo QT accorciato
ematoma intramuscolare
agranulocitosi
agranulocitosi indotta da farmaci
cloruro di sudore elevati
urocanico aciduria
iperchylomicronemia
malattia
aumentato intramiocellular gocce lipidiche
atrofia superioris palpebrae di Levator
atrofia rectus superiore
morfologia anomala del sistema genitale
determinazione del sesso anormale
inversione di sesso
paralisi del nervo oculomotore
anosmia specifico
intervallo PR prolungato
segmento ST anormale
depressione di segmento della ST
sopraslivellamento del tratto ST
morfologia anomala del sistema respiratorio
morfologia anomala dell'epitelio respiratorio
sarcoma di Ewing
Sarcoma di ewing
difetto di braccio di dineina di ciglia mobili
assente braccia di dineina esterno
assente dineina interno braccia
organizzazione axonemal anormale di ciglia mobili
assente braccia di dineina interno ed esterno
morfologia anomala coppia centrale microtubulare di ciglia mobili
fisiologia cilio motile respiratori anormali
Fascite eosinofila
anormale motilità ciliare
immotile cilia
assente la morfologia della coppia centrale microtubulare di ciglia mobili
discinesia ciliare
t-wave alternans
assente raggi radialei assonema ciliare
liposarcoma Myxoid
contenuto di glicogeno muscolare anormale
diminuito contenuto di glicogeno muscolare
ostruzione delle vie respiratorie superiore episodica
onda J
aumentato spessore di mediale intimale carotide
autosomica dominante con imprinting paterno
autosomica dominante con imprinting materno
tenosinovite del flessore digitale
ipoglicinemia
anomalia del metabolismo di serina
iposerinemia
amiloidosi epatica
ascite chyloso
eruzione del Morbilliform
epifisi piccola femorale distale
piccole epifisi tibiale prossimale
fisiologia ipotalamo anormale
morfologia anormale ipotalamo
deficit ipotalamico ormone diliberazione luteinizing ormone
neoplasia della testa e del collo
neoplasia facciale
bocca neoplasma
fusione delle gengive
pigmentazione anomala genitale
anomalia dell'osso occipitale
snella falange media del dito
snello falange distale del dito
snello falange prossimale del dito
tempo media falange del dito
lungo distale falange del dito
agenesia ureterale
profilo dell'isoforma della transferrina di tipo II
encefalite di simplex di erpete
anomalia dell'arco aortico
arco aortico ipoplasico
coartazione dell'arco aortico discendente
ossificazione anomala costola
costole Spatulate
livello diminuito del complemento C9 nel siero
amiloidosi cutanea
conta monociti anormale
monocitosi
monocitopenia
nodo del Heberden
nodo di Bouchard
istiocitoma
neoplasia del tessuto fibroso
artrite sacroiliaca
nevralgia occipitale
assente pigmentazione dell'addome
assente pigmentazione degli arti
aciduria D-2-idrossiglutarica
perifollicolite
dormire mioclono
leucemia mieloide
leucemia mielomonocitica cronica
anomalia dell'arteria celiaca
compressione dell'arteria celiaca
gigantiform
tufted angioma
pielonefrite
morfologia anormale del sistema nervoso autonomo
fisiologia anormale del sistema nervoso autonomo
regolamento eccitosecretori anormale
colestasi Extraepatica
anomalia del metabolismo dei folati
ridotta concentrazione di liquido cerebrospinale 5-metiltetraidrofolato
anormale omeostasi
dispendio energetico anormale
aumentato dispendio energetico a riposo
ridotto dispendio energetico a riposo
microprolactinoma
macroprolactinoma
diminuzione ferritina sierica
morphea
glicosilazione anormale
glicosilazione anormale delle proteine
glicosilazione N-linked anormale delle proteine
diminuzione anormale della galattosilazione nella glicosilazione N-linked delle proteine
sialilazione anormale nella glicosilazione N-linked delle proteine
diminuita sialilazione nella glicosilazione N-linked delle proteine
aumentata sialilazione nella glicosilazione N-linked delle proteine
fucosilazione anormale nella glicosilazione N-linked delle proteine
diminuita fucosilazione nella glicosilazione N-linked delle proteine
aumentata fucosilazione nella glicosilazione N-linked delle proteine
mannosilazione anormale nella glicosilazione N-linked delle proteine
diminuita mannosilazione nella glicosilazione N-linked delle proteine
aumentata mannosilazione nella glicosilazione N-linked delle proteine
glicosilazione O-linked anormale delle proteine
fucosilazione anormale nella glicosilazione O-linked delle proteine
diminuita fucosilazione nella glicosilazione O-linked delle proteine
aumentata fucosilazione nella glicosilazione O-linked delle proteine
sialilazione anormale nella glicosilazione O-linked delle proteine
diminuita fucosilazione nella glicosilazione O-linked delle proteine
ipokaluria
ipofosfaturia
invaginazione basilare
fontanelle Extra
piatto faccia
anomalia Malar
prominenza degli zigomi
protuberanza del Midface
morfologia anormale occhio
fisiologia ocularii anomali
anomalia del globo
chemosi
microphakia
emianopsia
affaticamento
ridotta attività della carnitina o-palmitoiltransferasi
autoalimentazione ritardata nei primi anni di vita
shunt sinistro-destro
shunt bidirezionale
rinite
camptodattilia
alluce assente
bronchite
bronchite acuta
ipotonia appendicolare
ragade anale
iporeflessia degli arti superiori
iporeflessia della mascella
allergia
allergia allo iodio di contrasto
allergia stagionale
discinesia biliare
aterosclerosi aortica
edema periferico
ulcera da pressione
livello anormale di aldolasi
concentrazione anormale di alfa-chetoglutarato nell'urina
concentrazione aumentata di alfa-chetoglutarato nell'urina
concentrazione ridotta di alfa-chetoglutarato nell'urina
concentrazione anormale di citrato nell'urina
ipocitraturia
ipercitraturia
andatura a forbice
nefrocalcinosi midollare
nefrocalcinosi corticale
aplasia puro delle cellule rosse
pubarca prematura
adrenarca prematuro
incisivo centrale primario dentellato
atrofia duodenale
livello di gas del sangue anormale
ipercapnia
ipocapnia
ipossiemia
iperossemia
liquido amniotico macchiato da meconio
assenza congenita del prepuzio
ipertrofia dei villi del plesso corioideo
inerzia colica
corioretinite
ulcera stercorale
drusen nel disco ottico
eccessiva antiversione femorale
calcagno prominente
aplasia
ipoplasia della sostanza bianca cerebrale
ipoplasia della sostanza bianca cerebrale
affaticamento episodico
stanchezza cronica
comportamento sociale anormale
ritardo dello sviluppo sociale
accorciamento ventrale del prepuzio
malattia coronarica nonocclusive
morfologia anormale della cistifellea
fisiologia anormale della cistifellea
fisiologia anormale del tratto biliare
morfologia anormale del tratto biliare
discinesia dello sfintere di oddi
discinesia della cistifellea
anomalia del cervello
atrofia cerebrale
bassi livelli di 5-metiltetraidrofolato nel fluido cerebrospinale
mielinizzazione anormale
mielinizzazione ritardata
sinovite congiunta sacroiliaca
costipazione cronica
stipsi acuta
gambe senza riposo
contrattura di flessione del polso bilaterale
contrattura unilaterale della flessione del polso
calcificazione dell'arteria grande
calcificazione arteriosa mediale
calcificazione mediale delle arterie di medie dimensioni
calcificazione mediale delle piccole arterie
cefalea ipnica
Cefalea a grappolo
verme cerebellare inferiore dismorfico
batteriuria
mioclono del mento
saturazione elevata della transferrina
saturazione della transferrina diminuita
concentrazione elevata di ferro epatico
acidosi respiratoria cronica
acidosi respiratoria acuta
acidosi cronica
spasmi infantili
fenomeno quot;occhio al tramonto del solequot;
bordo spesso del vermiglio
eclabion
atrofia della lingua
occlusione dell'arteria carotidea
deficit anticorpale specifico
mancanza dell'anticorpo specifico per lo pneumococco
tremore vocale
anchilosi dell'articolazione temporomandibolare
crepitio dell'articolazione temporomandibolare
anomalia delle vene cerebrali
angioma venoso cerebrale
angioma venoso frontale
granuli alfa anormali
granuli densi anormali
sistema canalicolare aperto connesso a superficie anormale
mielite
ciste aracnoide nell'angolo cerebellopontino
ciste aracnoide intraventricolare
ciste aracnoide soprasellare
panniculite
sistema tubolare denso anormale
stenosi dell'arteria cerebrale
stenosi dell'arteria cerebrale media
stenosi dell'arteria cerebrale anteriore
stenosi dell'arteria cerebrale posteriore
ridotta pressione inspiratoria massima
ridotta pressione espiratoria massima
cavo nucale
dissezione aortica discendente
papula verrucosa
anomalia della sostanza bianca del tronco cerebrale
anomalia della capsula interna
anomalia della ghiandola pituitaria
dimensione anormale della ghiandola pituitaria
ingrossamento della ghiandola pituitaria
ghiandola pituitaria piccola
debolezza del muscolo oculo-orbiculare
metamorfopsia
ridotta globulina legante tiroxina
accumulo di liquido cerebrospinale supplementare-assiale
pallore del disco ottico temporale
diffuso pallore del disco ottico
dolore all'arto superiore
dolore all'arto inferiore
debolezza dei flessori dell'anca
tetralogia di fallot con atresia polmonare
ridotta attività della catalasi
anomalia del cerchio di Willis
arteria posteriore comunicante ipoplastica
spazi perivascolari
aplasia del nervo ottico
emangioma a ragno
avversione orale
forma anomala delle piastrine
distribuzione anomala dei granuli alfa
assenza di granuli alfa
contenuto dei granuli alfa anormale
numero abnorme di granuli alfa
contenuto anormale di granuli densi
numero abnorme di granuli densi
dolore
dolore cronico
allodinia
disestesie
trasmissione sinaptica anormale
positivo agli anticorpi anticardiolipina materni
Intolleranza alimentare
intolleranza al glutine
linfoma non-hodgkin
ciste epidermoide ascellare
cefaloematoma
onicauxi
emosiderinuria
livello elevato di aldolasi
livello ridotto di aldolasi
inattivazione dell'X materna asimmetrica
movimenti oculari anomali involontari
infiltrazione grassa del muscolo scheletrico
lipoma congiuntivale
varici del colon
assenti granuli specifici dei neutrofili
aumento delle proiezioni nucleari dei neutrofili
unghia ipoplastica
unghia assente
unghia dell'alluce assente
iperbetaalaninemia
elettroencefalogramma con onde centrotemporali focali
rapporto t3
t4 anormale
aumentato rapporto degli ormoni t3
t4
diminuzione rapporto  degli ormoni t3
t4
valvola aortica unicuspidata
fusione prematura epimetafisaria dominante in mano
fusione prematura epimetafisaria dominante nel piede
fusione prematura epimetafisaria dominante nella tibia
fusione prematura epimetafisaria dominante nel perone
fusione prematura epimetafisaria dominante nel raggio
fusione prematura epimetafisaria dominante nell'ulna
edema della palpebra inferiore
menarca ritardato
sarcoma sinoviale
uretere fuso
uretere duplex
tubulopatia globale prossimale
proliferazione mesangiale
anomalia del nefrone
nefropatia c3
membrana basale glomerulare sottile
nefropatia membranosa
cambiamento minimo glomerulonefrite
calcolosi di fosfato di calcio
ciste renale solitaria
displasia renale bilaterale
ipoplasia renale monolaterale
ipoplasia renale bilaterale
atrofia renale
atrofia renale bilaterale
ematuria macroscopica
sindrome nefrosica steroido-resistente
sindrome nefrotica multi-resistente
produzione anormale di urina
concentrazione di elettroliti urinari anomali
albuminuria
proteinuria nefrotica gamma
microalbuminuria
lieve proteinuria
proteinuria moderata
proteinuria pesante
concentrazione anormale di potassio nelle urine
concentrazione anormale di fosfato nell'urina
concentrazione anormale di cloruro nell'urina
ipocloriduria
perdita renale di cloruro
concentrazione anormale di sodio nell'urina
iponatriuria
ipernatriuria
perdita renale di sodio
concentrazione anormale di magnesio nell'urina
ipermagnesiuria
ipomagnesiuria
anomalia della concentrazione urinaria di acido urico
urato urinario aumentato
concentrazione anormale di solfato urinario
solfato urinario aumentato
citologia anormale dell'urina
cilindruria
cilindruria da leucociti
cilindruria eritrocitaria
ciste uracale
diverticoli multipli nella vescica
anomalia cloacale
cloaca persistente
malattia renale cronica
malattia renale cronica di stadio 1
malattia renale cronica di stadio 2
malattia renale cronica di stadio 3
malattia renale cronica di stadio 4
pseudoesfoliazione
anomalia del legamento sospensore della lente
facodonesi
anomalia del trabecolato
deposizione di pigmento nel trabecolato
pressione intraoculare anormale
asimmetria della pressione intraoculare
dispersione del pigmento dell'iride
ipoperfusione dell'iride
occlusione venosa retinica
perdita renale di calcio
anomalia della pressione intracranica
diminuzione della pressione intracranica
agenesia cerebellare
ipopigmentazione foveale
aumentato livello di lattato caudato
ingrossamento del nervo periferico
testicolo retrattile
risposta infiammatoria anomala
risposta infiammatoria diminuita
risposta infiammatoria aumentata
polimicrogiria perisilviana
abasia
asma indotto dall'esercizio
stato asmatico
livello anormale di dopamina nel fluido cerebro-spinale
elevato livello di dopamina nel fluido cerebrospinale
ridotto livello di dopamina nel fluido cerebrospinale
tomografia a emissione di positroni anormale del cervello
tomografia a emissione di positroni FDG cerebrale anormale
ipometabolismo prefrontale nell'FDG-PET
ipometabolismo talamico nell'FDG-PET
ipometabolismo ipotalamico all'FDG-PET
ipometabolismo parietale nell'FDG-PET
frazione di eiezione leggermente ridotta
frazione di eiezione ridotta
frazione di eiezione moderatamente ridotta
frazione di eiezione severamente ridotta
anormalità regionale nel movimento della parete ventricolare sinistra
sincope vasovagale
sincope del seno carotideo
sincope ortostatica
abulia
mutismo acinetico
aplasia della vagina superiore
aplasia della vagina inferiore
Tenesmo
Onicocriptosi
Malformazione artero-venosa
Blocco senoatriale
Aneurisma dell'aorta toracica
Lesioni elementari della cute
Tosse
Papilloma
seni paranasali e mastoidi assenti
Asma cardiaco
Ortopnea
Linfangioleiomiomatosi
Anisometropia
Ulcera corneale
Proboscide
Miocardite
insorgenza e decorso clinico
Intensity
Borderline
Lateralizzazione
Generalizzazione
Posizione anatomica
Posizione anatomica
Anorchidia
Varicocele
Eiaculazione precoce
Eiaculazione retrograda
Aneiaculazione
Cisti ovarica
Lagoftalmo
Lagoftalmo
Dispareunia
Vaginismo
Ascesso cerebrale
Narcolessia
camminatura sulle punte dei piedi
Craniofaringioma
Paraganglioma
Carcinoma lobulare in situ
Adenocarcinoma polmonare
Neoplasie della cervice uterina
Linfoma di burkitt
Clinodattilia
Vertebra lombare
Endometriosi
Borborigmo
Soffio cardiaco
Shock cardiogeno
Shock
Colangite acuta
Colangiocarcinoma
Dolore addominale
Ectropion cervicale
Polipo cervicale
Cervicite
Tremore
Disposofobia
Apatia
Ipersessualità
Inerzia
Trombosi della vena porta
Sindrome di budd-chiari
Enantema
Cheilite angolare
Carcinoma polmonare a piccole cellule
Glucagonoma
Tumori neuroendocrini
Carcinosi peritoneale
Pinealoblastoma
Neuroma
Osteocondroma
Osteoma osteoide
Carcinoma a cellule di merkel
Sarcoma
sarcoma epitelioide
Emianopsia
Central
Periferica
Categoria
Herança
Codominância
Dominância
Gene recessivo
Dominância
Gene recessivo
Codominância
Infecção do trato urinário
Cistite
Bexiga neurogênica
Útero bicorno
Divertículo
Retenção urinária
Noctúria
Retenção urinária
Incontinência urinária
Hérnia inguinal
Prostatite
Azoospermia
Criptorquia
Atrofia testicular
Epididimite
Hidrocele testicular
Pseudo-hermafroditismo
Epispádia
Hipogonadismo
Hipospádia
Hipospádia
Micropênis
Clitoromegalia
Intersexualidade
Estenose
Rim
Nefropatia
Insuficiência renal
Proteinúria
Glomeruloesclerose segmentar e focal
Estatura
Glomerulonefrite
Síndrome nefrótica
Poliúria
Nefropatia
Nefrite
Hidronefrose
Leiomioma do útero
Menorragia
Disgenesia gonadal
Disgenesia gonadal mista
Hipogonadismo
Cisto ovariano
Amenorreia
Síndrome do ovário policístico
Macrostomia
Macroglossia
Fissura labiopalatal
Músculo da úvula
Úvula
Síndrome de pierre robin
Fissura labiopalatal
Fissura labiopalatal
Glossite atrófica
Trismo
Xerostomia
Língua fissurada
Doença periodontal
Hidrocefalia
Trigonocefalia
Sinusite
Braquicefalia
Microcefalia
Sinusite
Macrocefalia
Oxicefalia
Oxicefalia
Mastoidite
Escafocefalia
Retrognatismo
Epicanto
Prognatismo
Mioquimia
Simetria facial
Micrognatismo
Zumbido
Otosclerose
Surdez
Otite média
Otite média
Otite média
Perda auditiva condutiva
Perda de audição neurossensorial
Epistaxe
Anosmia
Long neck
Torcicolo
Retina
Megalocórnea
Estrabismo
Retinopatia
Enoftalmia
Ceratite
Blefarite
Glaucoma
Baixa visão
Cegueira
Ptose
Conjuntivite
Retinite pigmentosa
Cristalino
Catarata
Exoftalmia
Aniridia
Córnea
Hipermetropia
Descolamento de retina
Miopia
Daltonismo
Daltonismo
Uveíte
Ceratocone
Baixa visão
Cegueira
Hemorragia retinal
Escotoma
Retinite pigmentosa
Blefarofimose
Coloboma
Oftalmoplegia
Oftalmoplegia
Escotoma
Degeneração macular
Coloboma
Fotofobia
Miose
Cegueira
Dacriocistite
Paralisia supranuclear progressiva
Cor dos olhos
Blue eye
Nistagmo
Blefaroespasmo
Ambliopia
Diplopia
Retina
Nictalopia
Monocelho
Hipodontia
Cárie dentária
Anodontia
Hipodontia
Taurodontismo
Microdontia
Diastema
Dentinogênese imperfeita
Periodontite
Amelogênese imperfeita
Transtorno mental
Psicose
Tédio
Transtorno de personalidade limítrofe
Depressão
Depressão nervosa
Autismo
Agressão
Transtorno obsessivo-compulsivo
Psicose
Demência
Espectro autista
Transtorno global do desenvolvimento
Estereotipia
Limiar de atenção
Irritabilidade
Alucinação
Ansiedade
Apatia
Automutilação
Delírio
Modificações duradouras da personalidade
Transtorno do déficit de atenção com hiperatividade
Agorafobia
Insight
Neuropatia periférica
Pectus excavatum
Ginecomastia
Hérnia diafragmática
Amenorreia
Cálculo renal
Infertilidade
Hematúria
Cálculo renal
Glomerulonefrite membranoproliferativa
Nefropatia por iga
Oligospermia
Disfunção erétil
Diabetes mellitus
Hipotiroidismo
Hipertensão arterial
Puberdade atrasada
Deficiência do hormônio do crescimento
Puberdade precoce
Hipoparatireoidismo
Diabetes mellitus tipo 2
Anomalia da tolerância à glicose
Hipertiroidismo
Deficiência do hormônio do crescimento
Hiperplasia adrenal congênita
Hiperparatiroidismo
Acromegalia
Insuficiência adrenal
Bócio
Resistência à insulina
Hiperaldosteronismo
Amenorreia
Hiperprolactinemia
Hipopituitarismo
Tiroidite de hashimoto
Diabetes insipidus
Condrocalcinose
Osteopenia
Osteoporose
Icterícia
Hiperpigmentação
Prega palmar transversal única
Acantose nigricans
Mancha café com leite
Xerose
Cianose
Hiperqueratose
Eczema
Anidrose
Petéquia
Edema
Anidrose
Hiperidrose
Suor
Diaforese
La peau douce
Equimose
Púrpura
Palidez
Exantema
Prurido
Xantoma
Fotossensibilidade
Hipertricose
Linfedema
Hirsutismo
Telangiectasia
Lipoma
Albinismo
Urticária
Hemangioma
Eritema
Vitiligo
Dermatite atópica
Dermatite seborreica
Erisipela
Aplasia da cútis congênita
Pterígio
Acrocianose
Estria
Neurofibromatose
Doença de fabry
Colelitíase
Colecistite
Arco senil
Papiledema
Manchas de brushfield
Uveíte
Retinopatia hipertensiva
Síndrome do olho seco
Xeroftalmia
Heterocromia
Uveíte
Albinismo
Albinismo ocular
Xantelasma
Triquíase
Coroideremia
Útero bicorno
Mão
Hand
Braquidactilia
Sindactilia
Ectrodactilia
Síndrome de marfan
Hipocratismo digital
Estupidez
Epilepsia
Ataxia
Espasticidade
Paraparesia espástica familiar
Disartria
Demência
Hemiparesia
Dispraxia
Polineuropatia
Agenesia de corpo caloso
Hipertonia
Tonicidade
Hipotensão postural
Síncope
Tetania
Paralisia bulbar
Meningite
Perturbações da marcha
Confusão
Acidente vascular cerebral
Encefalopatia
Parkinsonismo
Distonia
Síndrome de dandy-walker
Dismetria
Fraqueza muscular
Astenia
Dificuldades de aprendizagem
Distonia
Hidrocefalia
Mioclonia
Tremor
Agenesia de corpo caloso
Lisencefalia
Hiper-reflexia
Megaloencefalia
Plagiocefalia
Holoprosencefalia
Craniossinostose
Artropatia
Artrite
Artrite reumatoide
Contratura
Luxação
Deslocamento
Osteoartrite
Hipermobilidade
Cirrose hepática
Cirrose hepática
Colestase
Fígado gorduroso
Esteatose
Insuficiência hepática
Hepatocarcinoma
Esteatose
Hipertensão portal
Insuficiência hepática
Esteatose
Herança ligada ao sexo
Dna mitocondrial
Mitocôndria
Mutação
Hepatoesplenomegalia
Mosaicismo
Sardas
Desenvolvimento infantil
Obesidade
Macrossomia fetal
Onfalocele
Ascite
Gastrosquise
Poli-hidrâmnio
Oligo-hidrâmnio
Síndrome de cushing
Nistagmo
Alopécia
Calvície
Laringomalácia
Disfonia
Disfonia
Parto pré-termo
Comunicação interventricular
Prolapso da válvula mitral
Insuficiência cardíaca
Tetralogia de fallot
Miocardiopatia
Cardiomiopatia hipertrófica
Cardiomegalia
Estenose pulmonar
Persistência do canal arterial
Canal arterial
Cardiomiopatia dilatada
Morte súbita
Corpulmonale
Taquicardia
Estenose aórtica
Dextrocardia
Regurgitação mitral
Valvopatia
Síndrome do qt longo
Infarto agudo do miocárdio
Insuficiência aórtica
Truncus arteriosus
Bradicardia
Fibrilhação ventricular
Torsades de pointes
Canal atrioventricular
Doença arterial coronariana
Coarctação da aorta
Angina
Parada cardiorrespiratória
Situs inversus
Mesotelioma
Derrame pericárdico
Pericardite
Meningioma
Insuficiência cardíaca
Bloqueio átrio-ventricular do terceiro grau
Hipertrofia ventricular
Catarata
Síndrome de wolff-parkinson-white
Paralisia cerebral
Estenose mitral
Cardiomiopatia restritiva
Malformação arteriovenosa
Trombose
Pancreatite
Osteomalacia
Pancreatite aguda
Fimose
Congestão nasal
Esplenomegalia
Asplenia
Baço acessório
Baço acessório
Pé
Pé cavo
Pé torto
Pé chato
Dedo do pé em martelo
Ruptura prematura de membranas
Hidropsia fetal
Onicólise
Paroníquia
Hallux valgus
Perda de peso
Gota
Trombastenia de glanzmann
Trombocitopenia
Neutropenia
Pancitopenia
Anemia hemolítica
Eosinofilia
Leucopenia
Pé torto
Anemia megaloblástica
Anemia hemolítica autoimune
Anemia ferropriva
Diátese hemorrágica
Trombocitose
Poliglobulia
Anemia
Trombose
Leucemia
Granulócito
Anemia aplástica
Insuficiência renal aguda
Estenose da artéria renal
Reticulocitose
Anemia sideroblástica
Hemofilia c
Anemia microangiopática
Sarcoma
Acidose
Acidose metabólica
Soluço
Hipoglicemia
Osteoma
Desidratação
Hipertermia
Febre
Hemibalismo
Cetose
Acidose tubular renal
Alcalose
Alcalose respiratória
Ectrodactilia
Cetoacidose diabética
Obesidade
Polidipsia
Palpitação
Nefrite tubulointersticial
Esplenomegalia
Púrpura trombocitopênica idiopática
Leucocitose
Colite ulcerosa
Trombastenia de glanzmann
Deficiência de antitrombina iii
Antitrombina
Doença de crohn
Hiperamonemia
Artrogripose
Cetoacidose
Gota
Hematoma subdural
Fenda facial
Corpo de lewy
Vômito
Diarreia
Disfagia
Náusea
Obstipação
Doença de refluxo gastroesofágico
Estenose pilórica
Esclerodermia
Alergia ao leite
Má-absorção intestinal
Dor abdominal
Diarreia
Atresia esofágica
Prolapso retal
Hérnia de hiato
Doença inflamatória intestinal
Anorexia
Varizes esofágicas
Síndrome de zollinger-ellison
Hipotermia
Hipertermia maligna
Hipertonia
Perturbações da marcha
Ataxia
Sistema extrapiramidal
Disdiadococinesia
Enxaqueca
Aura
Agenesia de corpo caloso
Encefalocele
Hipoplasia
Pneumonia
Hipertensão pulmonar
Dispneia
Doença pulmonar obstrutiva crônica
Enfisema
Asma
Pleurisia
Apneia
Hemoptise
Pneumotórax
Pneumotórax
Brônquio
Bronquiectasia
Crise de ausência
Mioclonia
Porencefalia
Hemorragia subaracnóidea
Acidente vascular cerebral
Perturbações da marcha
Mielopatia
Hipofosfatemia
Hiperuricemia
Hipercalciúria
Hipercaliemia
Hipertrigliceridemia
Homocistinúria
Azotemia
Distúrbio da fala
Clônus
Opistótono
Neurodegeneração
Edema cerebral
Fonofobia
Emaranhados neurofibrilares
Apraxia
Mastocitose
Pelagra
Mielopatia
Beribéri
Deficiência de vitamina b12
Arriboflavinose
Riboflavina
Derrame pleural
Deficiência de folato
Embolia pulmonar
Fibrose pulmonar
Escorbuto
Deficiência de vitamina e
Polaquiúria
Hair
Disúria
Cor dos cabelos
Oligúria
Abscesso amebiano
Timoma
Esclerite
Episclerite
Fasciíte
Hérnia femoral
Demência
Sangramento gastrointestinal
Hepatomegalia
Divertículo de meckel
Extrofia da bexiga
Atresia intestinal
Hematemese
Melena
Doença de hirschsprung
Megacólon
Distonia
Tetraplegia
Síndrome de horner
Esôfago de barrett
Pólipo nasal
Endocardite
Heterotopia
Parafimose
Cabelo loiro
Alopecia universalis
Alopécia
Calvície
Edema pulmonar
Eclampsia
Rutilismo
Cor dos cabelos
Pré-eclampsia
Pré-eclampsia
Mudez
Hemiparesia
Dismenorreia
Atetose
Metrorragia
Drible
Sialorreia
Síndrome de arnold-chiari
Câncer ovariano
Miosite
Cefaleia
Disgerminoma
Mielopatia
Vertigem
Tontura
Tremor
Anencefalia
Hidranencefalia
Esofagite
Doença de graves
Tireoidite
Diabetes mellitus tipo 1
Neurite óptica
Neurite óptica
Amnésia
Perturbações da marcha
Celulite
Neuralgia do trigêmeo
Afasia
Discinesia
Angioedema
Angioedema hereditário
Perturbações da marcha
Alucinação
Fasciculação
Afasia
Neoplasia de glândula salivar
Encefalite
Paraplegia
Cicatriz
Cisto aracnoide
Deficiência visual cortical
Mioquimia
Automutilação
Espinha bífida
Leucodistrofia
Trombofilia
Histiocitose
Anarthria
Afasia de broca
Bulimia nervosa
Espinha bífida
Discalculia
Dor torácica
Tetraplegia
Câncer esofágico
Atelectasia
Esquizofrenia
Pancreatoblastoma
Hipocratismo digital
Gangrena
Neuropatia autonômica
Fraqueza muscular
Linfangioma
Sinovite
Coriocarcinoma
Exostose
Espinha bífida
Crioglobulinemia
Reflexos primitivos
Reflexo
Encefalopatia hepática
Insônia
Hipersonia
Tórus palatino
Hérnia
Orquite
Paraparesia espástica familiar
Ataxia espinocerebelar
Sepse
Torção testicular
Halitose
Doença de alzheimer
Hipertensão renovascular
Pressão intracraniana
Queilite exfoliativa
Linfocitose
Cataplexia
Galactorreia
Neurónio
Moscas volantes
Postura anormal
Glioblastoma multiforme
Anafilaxia
Terceiro mamilo
Cardiopatia congênita
Esteatorreia
Acalasia
Cálice menor
Hematoquezia
Disenteria
Gastroparesia
Vôlvulo
Colite
Peritonite
Vômito
Cistos coledocianos
Úlcera péptica
Íleo paralítico
Polifagia
Úlcera péptica
Incontinência fecal
Doença celíaca
Cirrose biliar primária
Cirrose biliar primária
Hipotensão
Aneurisma
Variz
Aterosclerose
Dissecção da aorta
Trombose venosa profunda
Vasculite
Arteriosclerose
Tromboflebite
Síndrome de budd-chiari
Ossos vormianos
Dissecção da aorta
Escoliose
Dor óssea
Hiperestesia
Timidez
Neoplasma
Oncologia
Cancro
Linfoma
Feocromocitoma
Nefroblastoma
Osteossarcoma
Carcinoma basocelular
Craniossinostose
Linfadenopatia
Deficiência seletiva de imunoglobulina a
Imunodeficiência
Lúpus eritematoso sistêmico
Leucoplasia
Raquitismo
Osteomalacia
Osteomielite
Osteoartrite
Traqueia
Traqueomalácia
Infecção do trato respiratório superior
Taquipneia
Hipoventilação
Artrogripose
Artrogripose
Cifose
Cauda
Artralgia
Extrofia da bexiga
Linfadenopatia
Meningioma
Rabdomiossarcoma
Carcinoma de células escamosas
Melanoma
Câncer de bexiga
Síndrome mielodisplásica
Carcinoma medular da tiroide
Dispneia
Hiperventilação
Hepatoblastoma
Ependimoma
Adenoma de hipófise
Cancro do pâncreas
Câncer de fígado
Hepatocarcinoma
Hipocaliemia
Hipocalcemia
Hiponatremia
Bilirrubina
Hiperfosfatemia
Hipomagnesemia
Hipermagnesemia
Cetonúria
Lordose
Cifose
Síndrome de klippel-feil
Granuloma
Autoimunidade
Câncer de mama
Câncer colorretal
Neuroblastoma
Doença de menkes
Artropatia
Subluxação da cabeça do rádio
Tetra-amelia
Hipercalcemia
Hipoalbuminemia
Hiperglicemia
Hipoproteinemia
Glicosúria
Subluxação da cabeça do rádio
Artrite séptica
Hipofosfatemia
Uranálise
Distúrbio eletrolítico
Hipocloremia
Dislipidemia
Hipercolesterolemia
Hemofilia a
Acidose láctica
Hipocolesterolemia
Isostenúria
Hiperoxalúria
Febre dos fenos
Miopatia
Síndrome merrf
Rabdomiólise
Factor v
Hipernatremia
Tirosinemia
Hipogonadismo
Coagulopatia
Espinha bífida
Espondilolistese
Lordose
Mialgia
Acidemia propiônica
Situs inversus
Coccidínia
Sinal de gowers
Cãibra
Siringomielia
Parestesia
Polipose adenomatosa familiar
Daltonismo
Priapismo
Estenose espinhal
Dorsalgia
Lumbago
Vasculite de hipersensibilidade
Pápula
Anel de kayser-fleischer
Verruga
Cisto epidermoide
Paralisia
Deficiência
Reflexo plantar
Anticorpo antinuclear
Alcalose metabólica
Hepatite
Nanismo
Hepatite
Hepatite
Púrpura de henoch-schönlein
Mastocitose
Distrofia muscular
Síndrome do anticorpo antifosfolipídeo
Trimetilaminuria
Hemoglobinúria
Sulfito oxidase
Progressivo
Fraqueza muscular
Hipertrofia muscular
Miopatia mitocondrial
Calcinose
Bruxismo
Nevo
Psoríase
Doença renal crônica
Sialorreia
Mortalidade perinatal
Natimorto
Mortalidade perinatal
Penetrância
Luxação do ombro
Ausência congênita do rádio
Ausência congênita do rádio
Arritmia cardíaca
Fístula obstétrica
Caquexia
Enterocolite
Má-nutrição
Anorexia
Úlcera péptica
Mecônio
Desvio de septo nasal
Claudicação intermitente
Tromboflebite
Trombose
Síndrome de crouzon
Poiquilocitose
Doença pulmonar obstrutiva crônica
Hipertricose
Síndrome de klippel-feil
Estenose espinhal
Glomerulonefrite membranoproliferativa
Flutter atrial
Taquicardia supraventricular
Taquicardia ventricular
Fibrilação auricular
Taquicardia supraventricular
Hepatite
Intolerância à lactose
Leucemia mieloide aguda
Hemoglobinúria paroxística noturna
Leucemia mielomonocítica aguda
Leucemia promielocítica aguda
Fator xii
Leucemia monoblástica aguda
Diabetes mody
Deficiência de vitamina a
Aterosclerose
Atresia pulmonar
Trombose venosa
Aneurisma da aorta
Aneurisma cerebral
Fístula arteriovenosa
Doença arterial periférica
Aneurisma de aorta abdominal
Osteoartrite
Fibrilação auricular
Joelho
Fibrose retroperitoneal
Helicobacter pylori
Síndrome de boerhaave
Diarreia
Árvore biliar
Atresia biliar
Hemartrose
Gastrite
Aborto espontâneo
Trombo
Hemangioma infantil
Estridor
Anemia
Leucemia mieloide crônica
Macroglobulinemia de waldenström
Anemia
Coagulação intravascular disseminada
Leucemia aguda bifenotípica
Leucemia linfoide crônica
Hematologia
Síndrome hemolítico-urêmica
Carcinoma de células renais
Nevo melanocítico congênito
Braquidactilia
Alcaptonúria
Processo odontoide
Artrite idiopática juvenil
Síndrome de legg-calvé-perthes
Braquidactilia
Pseudoartrose
Atresia biliar
Parada respiratória
Acidose respiratória
Diabetes mellitus tipo 2
Fenilcetonúria
Hiperidrose
Pancreatite crônica
Síndrome unha-patela
Doença pulmonar obstrutiva crônica
Proteinose alveolar pulmonar
Carcinoma bronquíolo-alveolar
Pneumonia
Parada cardiorrespiratória
Taquicardia supraventricular
Fibrose cardíaca
Síndrome hipereosinofílica
Leucemia linfoide aguda
Cancro do pâncreas
Condrossarcoma
Angiomiolipoma
Mieloma múltiplo
Plasmocitoma
Distrofia muscular do tipo cinturas
Esclerose lateral amiotrófica
Encefalocele
Esclerose difusa
Nistagmo
Leucomalácia periventricular
Transtorno do déficit de atenção com hiperatividade
Síndrome de arnold-chiari
Demência
Polineuropatia
Síndrome de moebius
Megaloencefalia
Trato corticoespinhal
Ataxia espinocerebelar
Transtornos do desenvolvimento psicológico
Edema macular
Espectro bipolar
Transtornos do humor
Transtorno bipolar
Hipopituitarismo
Neurodegeneração
Distonia
Presbiacusia
Esclerose lateral amiotrófica
Discinesia tardia
Hidrosadenite
Periostite
Hiperidrose palmo-plantar
Queilite exfoliativa
Encoprese
Lúpus eritematoso discoide
Osteocondrite
Ictiose
Albinismo
Risus sardonicus
Adermatoglifia
Hiperqueratose
Hiperqueratose
Hiperqueratose
Daltonismo
Acuidade visual
Monocromacia
Heterocromia
Degeneração macular
Neuropatia óptica hereditária de leber
Daltonismo
Monocromacia
Ictiose
Bolha
Câncer de pele
Fator vii
Síndrome de bassen-kornzweig
Resistência à insulina
Insuficiência adrenal
Doença de addison
Hormônio da paratireoide
Hipogonadismo
Insuficiência adrenal
Hiperplasia adrenal congênita
Hipotiroidismo
Síndrome de williams
Hiperplasia adrenal congênita
Glucuronosiltransferase
Fator x
Deficiência de piridoxina
Unha
Espondilose
Zumbido
Glomerulonefrite rapidamente progressiva
Clitoromegalia
Necrose tubular aguda
Hiperplasia prostática benigna
Disgenesia gonadal
Laringomalácia
Anti-jo1
Lipodistrofia
Astrocitoma
Câncer de bexiga
Cancro do rim
Rabdomioma
Rabdomioma
Glioma
Nódulo de lisch
Nefropatia hipertensiva
Abscesso anorretal
Teratoma
Colesteatoma
Diabetes gestacional
Hipodontia
Amélia
Focomelia
Neuropatia periférica
Neuropatia periférica
Ciclopia
Anisocoria
Retinoblastoma
Síndrome de duane
Arinia congênita completa
Estomatite
Bifurcação da língua
Glossite atrófica
Espinha bífida
Estridor
Quilotórax
Polidactilia
Intersexualidade
Disgenesia gonadal
Sirenomelia
Artelho
Hálux
Hiperpituitarismo
Alexia
Dislexia
Alexia
Agnosia
Disgrafia
Prosopagnosia
Ecolalia
Amnésia global transitória
Apneia de sono
Paraplegia
Queloide
Ceratocisto odontogênico
Calázio
Hordéolo
Hordéolo
Calázio
Fibroma
Esquizencefalia
Cordoma
Cisto pilonidal
Fístula
Cisto pilonidal
Hiperacusia
Eritema
Aparelho urinário
Transtorno desafiador opositivo
Necrose avascular
Osteocondrite dissecante
Síndrome de osgood-schlatter
Doença de scheuermann
Catarata
Válvula de uretra posterior
Incontinência de esforço
Osteosclerose
Osteopetrose
Crónica
Doença aguda
Doença gastrointestinal
Amiloidose
Oligúria
Displasia dentinária
Hiperdontia
Odontoma
Hiperdontia
Dente impactado
Dente invaginado
Geminação
Overjet
Doença desmielinizante
Síndrome de west
Dispraxia verbal do desenvolvimento
Hipervolemia
Hipovolemia
Afta
Sinusite
Tonsilite
Nefroptose
Febre
Anisocitose
Apodia
Cor dos cabelos
Acantose
Cesariana
Fórceps
Distócia de ombro
Vasa praevia
Descolamento prematuro da placenta
Hipercloremia
Postura anormal
Doença infecciosa do sistema nervoso
Câncer esofágico
Midríase
Edema macular
Acromatopsia
Monocromacia
Monocromacia
Dicromacia
Daltonismo
Daltonismo
Daltonismo
Descolamento de retina
Ventrículo único
Estenose mitral
Estenose mitral
Atresia da válvula tricúspide
Arritmia cardíaca
Taquicardia supraventricular
Taquicardia sinusal
Síndrome do nó sinusal
Bloqueio átrio-ventricular do primeiro grau
Bloqueio atrioventricular de primeiro grau
Bloqueio do ramo direito do feixe de his
Bloqueio do ramo esquerdo do feixe de his
Síndrome de conn
Hiperaldosteronismo
Hipertiroidismo
Osteoblastoma
Tumor ósseo de células gigantes
Plasmocitoma
Ciatalgia
Hifema
Hemorragia pós-parto
Deficiência de vitamina k
Hemorragia subconjuntival
Talassemia
Empiema pleural
Infecção respiratória
Bronquiolite
Pneumonia por aspiração
Azoospermia
Azoospermia
Disfagia
Dermografismo
Mielofibrose idiopática
Acolia
Paranoia
Déjà vu
Galactosemia
Edema
Lipoma
Lipossarcoma
Hemeralopia
Anasarca
Hipoglicemia reativa
Síndrome de adie
Transtorno de personalidade
Transtorno de personalidade limítrofe
Transtorno de personalidade histriônica
Piúria
Arterite
Glaucoma
Câncer endometrial
Hepatite
Câncer de laringe
Meta-hemoglobinemia
Uveíte
Câncer de próstata
Cancro do estômago
Hemotórax
Anedonia
Asteríxis
Dermatotilexomania
Tricotilomania
Headbanging
Onicofagia
Glioblastoma multiforme
Hiperêmese gravídica
Linfoma de hodgkin
Respiração de cheyne-stokes
Insulinoma
Cefaleia em salvas
Onicomicose
Microlitíase testicular
Eritema nodoso
Complexo imune
Estenose uretral
Cefaleia de tensão
Pleocitose
Agranulocitose
Sarcoma de ewing
J-wave
Ascite
Leucemia mieloide
Pielonefrite
Hemianopsia
Coriza
Bronquite
Bronquite
Fissura anal
Alergia
Alérgeno
Escara
Hipercapnia
Hipocapnia
Hipoxemia
Efeito paul bert
Obstipação
Corioretinite
Síndrome da fadiga crônica
Síndrome das pernas inquietas
Cefaleia em salvas
Síndrome de west
Paniculite
Metamorfopsia
Dor crônica
Alodinia
Disestesia
Linfoma não hodgkin
Sarcoma sinovial
Nefropatia membranosa
Doença de lesão mínima
Hematúria
Microalbuminúria renal
Doença renal crônica
Criptorquia
Estado asmático
Síncope vasovagal
Seio carótico
Síncope
Abulia
Onicocriptose
Malformação arteriovenosa
Bloqueio de ramo
Aglossia
Tosse
Papiloma
Ortopneia
Linfangioleiomiomatose
Anisometropia
Úlcera de córnea
Probóscide
Miocardite
Intensidade
Borderline
Position
Lateralidade
Unilateralismo
Generalização
Lista de termos técnicos de anatomia
Lista de termos técnicos de anatomia
Ovotestis
Varicocele
Ejaculação precoce
Ejaculação retrógrada
Ejaculação retardada
Ejaculação retardada
Cisto ovariano
Lagoftalmo
Lagoftalmo
Incompetência istmocervical
Dispareunia
Vaginismo
Encondroma
Colpocefalia
Narcolepsia
Tumor neuroectodérmico primitivo
Tumor neuroectodérmico primitivo
Câncer cervical
Linfoma de burkitt
Vértebra lombar
Endometriose
Borborigmo
Sopro cardíaco
Choque cardiogênico
Choque circulatório
Colangite
Colangiocarcinoma
Dor abdominal
Cervicite
Varizes gástricas
Tremor
Acumulação compulsiva
Apatia
Inércia
Trombose de veia porta
Síndrome de budd-chiari
Microphallus
Quelite angular
Carcinoma de células pequenas
Carcinoma de pulmão de células não pequenas
Carcinoma de pulmão de células não pequenas
Carcinoma de pulmão de grandes células
Tumor neuroendócrino
Câncer vulvar
Osteocondroma
Osteoma osteoide
Tumor carcinoide de pulmão
Tumor de merkel
Hemianopsia
Central
Periférico
Lente multifocal
Categoria
