Orpha Number: 2528
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 | ||
Brachycephaly |
Short and broad skull
|
0000248 |
Clouding of the lens of the eye
Cloudy lens
[ more ]
|
0000518 | |
Epicanthus |
Eye folds
Prominent eye folds
[ more ]
|
0000286 |
High palate |
Elevated palate
Increased palatal height
[ more ]
|
0000218 |
Decreased activity of gonads
|
0000135 | |
Early and severe mental retardation
Mental retardation, severe
Severe mental retardation
[ more ]
|
0010864 | |
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 |
Microphthalmia |
Abnormally small eyeball
|
0000568 |
Narrow mouth |
Small mouth
|
0000160 |
Progressive |
0002191 | |
Retrognathia |
Receding chin
Receding lower jaw
Weak chin
Weak jaw
[ more ]
|
0000278 |
Decreased body height
Small stature
[ more ]
|
0004322 | |
Upslanted palpebral fissure |
Upward slanting of the opening between the eyelids
|
0000582 |
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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