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)|
|Aplasia/Hypoplasia of the skin||90%|
|Sensorineural hearing impairment||90%|
|Abnormality of retinal pigmentation||50%|
|Decreased body weight||50%|
|Impaired pain sensation||50%|
|Limitation of joint mobility||50%|
|Neurological speech impairment||50%|
|Skeletal muscle atrophy||50%|
|Abnormality of movement||7.5%|
|Abnormality of the thyroid gland||7.5%|
|Cerebral cortical atrophy||7.5%|
|Primary adrenal insufficiency||7.5%|
|Type II diabetes mellitus||7.5%|
|Autosomal dominant inheritance||-|
|Increased bone density with cystic changes||-|
|Increased CSF protein||-|
|Progressive sensorineural hearing impairment||-|
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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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