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
