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 | ||
| Epicanthus inversus | 0000537 | |
| Hearing impairment |
Deafness
Hearing defect
[ more ]
|
0000365 |
| Highly arched eyebrow |
Arched eyebrows
Broad, arched eyebrows
High, rounded eyebrows
High-arched eyebrows
Thick, flared eyebrows
[ more ]
|
0002553 |
| Limited pronation/supination of forearm | 0006394 | |
|
Drooping upper eyelid
|
0000508 | |
| Radioulnar synostosis |
Fused forearm bones
|
0002974 |
| 30%-79% of people have these symptoms | ||
| Abnormal anterior chamber morphology | 0000593 | |
| Bilateral cryptorchidism | 0008689 | |
| Blepharophimosis |
Narrow opening between the eyelids
|
0000581 |
| 0001363 | ||
| Diastasis recti |
Gap between large left and right abdominal muscles
|
0001540 |
| Downslanted palpebral fissures |
Downward slanting of the opening between the eyelids
|
0000494 |
| Downturned corners of mouth |
Downturned corners of the mouth
Downturned mouth
[ more ]
|
0002714 |
| Hyperlordosis |
Prominent swayback
|
0003307 |
| Hypertelorism |
Wide-set eyes
Widely spaced eyes
[ more ]
|
0000316 |
|
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ]
|
0001249 | |
| Large fleshy ears | 0002265 | |
| Oral cleft |
Cleft of the mouth
|
0000202 |
| Postnatal growth retardation |
Growth delay as children
|
0008897 |
| 0002650 | ||
| Spina bifida occulta | 0003298 | |
| Supernumerary nipple |
Accessory nipple
|
0002558 |
| Telecanthus |
Corners of eye widely separated
|
0000506 |
| 5%-29% of people have these symptoms | ||
| Abnormal nasal morphology |
Abnormal of nasal shape
Abnormal of shape of nose
[ more ]
|
0005105 |
| Caudal appendage |
Human tail
|
0002825 |
| Hip dislocation |
Dislocated hips
Dislocation of hip
[ more ]
|
0002827 |
| Low-set ears |
Low set ears
Lowset ears
[ more ]
|
0000369 |
| Prominent coccyx |
Prominent tailbone
|
0040016 |
| Umbilical hernia | 0001537 | |
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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