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||-|
Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.
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.
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.