Orpha Number: 1390
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 | ||
| Abnormal electroretinogram | 0000512 | |
| Abnormal palate morphology |
Abnormality of the palate
Abnormality of the roof of the mouth
[ more ]
|
0000174 |
| Abnormal retinal vascular morphology |
Abnormality of retina blood vessels
|
0008046 |
|
Short fingers or toes
|
0001156 | |
| Carious teeth |
Dental cavities
Tooth cavities
Tooth decay
[ more ]
|
0000670 |
| Down-sloping shoulders |
Rounded shoulders
Rounded, sloping shoulders
Sloping shoulders
[ more ]
|
0200021 |
| Epicanthus |
Eye folds
Prominent eye folds
[ more ]
|
0000286 |
| Joint hyperflexibility |
Joints move beyond expected range of motion
|
0005692 |
| Malar flattening |
Zygomatic flattening
|
0000272 |
| Myopia |
Close sighted
Near sighted
Near sightedness
Nearsightedness
[ more ]
|
0000545 |
| Nyctalopia |
Night blindness
Night-blindness
Poor night vision
[ more ]
|
0000662 |
|
Drooping upper eyelid
|
0000508 | |
| Retrognathia |
Receding chin
Receding lower jaw
Weak chin
Weak jaw
[ more ]
|
0000278 |
| Synophrys |
Monobrow
Unibrow
[ more ]
|
0000664 |
| 30%-79% of people have these symptoms | ||
| Abnormality of retinal pigmentation | 0007703 | |
| Abnormality of the nose |
Nasal abnormality
|
0000366 |
| Clinodactyly of the 5th finger |
Permanent curving of the pinkie finger
|
0004209 |
| Cognitive impairment |
Abnormality of cognition
Cognitive abnormality
Cognitive defects
Cognitive deficits
Intellectual impairment
Mental impairment
[ more ]
|
0100543 |
| Downslanted palpebral fissures |
Downward slanting of the opening between the eyelids
|
0000494 |
| Heterochromia iridis |
Different colored eyes
|
0001100 |
| Hypertonia | 0001276 | |
| Low-set, posteriorly rotated ears | 0000368 | |
| 0002650 | ||
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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