This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.
Medical Terms | Other Names | Learn More: HPO ID |
---|---|---|
80%-99% of people have these symptoms | ||
Oculomotor nerve palsy | 0012246 | |
Short palpebral fissure |
Short opening between the eyelids
|
0012745 |
Strabismus |
Cross-eyed
Squint
Squint eyes
[ more ]
|
0000486 |
30%-79% of people have these symptoms | ||
Abnormal vertebral segmentation and fusion | 0005640 | |
Anteverted nares |
Nasal tip, upturned
Upturned nasal tip
Upturned nose
Upturned nostrils
[ more ]
|
0000463 |
Blepharophimosis |
Narrow opening between the eyelids
|
0000581 |
Deeply set eye |
Deep set eye
Deep-set eyes
Sunken eye
[ more ]
|
0000490 |
Low posterior hairline |
Low hairline at back of neck
|
0002162 |
Sensorineural hearing impairment | 0000407 | |
5%-29% of people have these symptoms | ||
Abnormal form of the vertebral bodies | 0003312 | |
Abnormal pupil morphology |
Abnormality of the pupil
Pupillary abnormalities
Pupillary abnormality
[ more ]
|
0000615 |
Abnormality of cardiovascular system morphology | 0030680 | |
Absent radius |
Missing outer large bone of forearm
|
0003974 |
Amblyopia |
Lazy eye
Wandering eye
[ more ]
|
0000646 |
Aniridia |
Absent iris
|
0000526 |
Anorectal anomaly | 0012732 | |
Aplasia/Hypoplasia of the thumb |
Absent/small thumb
Absent/underdeveloped thumb
[ more ]
|
0009601 |
Blepharospasm |
Eyelid spasm
Eyelid twitching
Involuntary closure of eyelid
Spontaneous closure of eyelid
[ more ]
|
0000643 |
Short fingers or toes
|
0001156 | |
Camptodactyly |
Permanent flexion of the finger or toe
|
0012385 |
Central heterochromia | 0007818 | |
Chorioretinal coloboma |
Birth defect that causes a hole in the innermost layer at the back of the eye
|
0000567 |
Cleft roof of mouth
|
0000175 | |
Ectopic kidney |
Abnormal kidney location
Displaced kidney
[ more ]
|
0000086 |
Everted lower lip vermilion |
Drooping lower lip
Outward turned lower lip
[ more ]
|
0000232 |
External ear malformation | 0008572 | |
Facial asymmetry |
Asymmetry of face
Crooked face
Unsymmetrical face
[ more ]
|
0000324 |
Global |
0001263 | |
Hypopigmented skin patches |
Patchy loss of skin color
|
0001053 |
Hypoplasia of the radius |
Underdeveloped outer large forearm bone
|
0002984 |
Hypoplastic iris stroma | 0007990 | |
Iris coloboma |
Cat eye
|
0000612 |
Irregular hyperpigmentation | 0007400 | |
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference
[ more ]
|
0000252 | |
Microcornea |
Cornea of eye less than 10mm in diameter
|
0000482 |
Little lower jaw
Small jaw
Small lower jaw
[ more ]
|
0000347 | |
Narrow internal auditory canal | 0011386 | |
Involuntary, rapid, rhythmic eye movements
|
0000639 | |
Optic disc hypoplasia | 0007766 | |
Patchy hypopigmentation of hair | 0011365 | |
Plagiocephaly |
Flat head syndrome
Flattening of skull
Rhomboid shaped skull
[ more ]
|
0001357 |
Preauricular skin tag | 0000384 | |
Preaxial hand |
Extra thumb
|
0001177 |
Drooping upper eyelid
|
0000508 | |
0001250 | ||
Short neck |
Decreased length of neck
|
0000470 |
Skeletal muscle atrophy |
Muscle degeneration
Muscle wasting
[ more ]
|
0003202 |
Spina bifida occulta | 0003298 | |
Stenosis of the external auditory canal |
Narrowing of passageway from outer ear to middle ear
|
0000402 |
Talipes equinovarus |
Club feet
Club foot
Clubfeet
Clubfoot
[ more ]
|
0001762 |
Triphalangeal thumb |
Finger-like thumb
|
0001199 |
Webbed neck |
Neck webbing
|
0000465 |
Wide nasal bridge |
Broad nasal bridge
Broad nasal root
Broadened nasal bridge
Increased breadth of bridge of nose
Increased breadth of nasal bridge
Increased width of bridge of nose
Increased width of nasal bridge
Nasal bridge broad
Wide bridge of nose
Widened nasal bridge
[ more ]
|
0000431 |
These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.
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