The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. If available, the list includes a rough estimate of how common a feature is (its frequency). Frequencies are based on a specific study and may not be representative of all studies. You can use the MedlinePlus Medical Dictionary for definitions of the terms below.
|Signs and Symptoms||Approximate number of patients (when available)|
|Abnormality of the palate||90%|
|Abnormal pyramidal signs||50%|
|Abnormality of extrapyramidal motor function||50%|
|Abnormality of the eyelid||50%|
|Aplasia/Hypoplasia affecting the eye||50%|
|Depressed nasal bridge||50%|
|Limitation of joint mobility||50%|
|Opacification of the corneal stroma||50%|
|Abnormality of the helix||7.5%|
|Abnormality of the thumb||7.5%|
|Abnormality of the voice||7.5%|
|Hernia of the abdominal wall||7.5%|
|Hypopigmentation of hair||7.5%|
|Sensorineural hearing impairment||7.5%|
|Abnormality of the eye||-|
|Autosomal recessive inheritance||-|
|Hypopigmentation of the skin||-|
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Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.
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