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 foot||-|
|Decreased body weight||-|
|Intellectual disability, progressive||-|
|Intellectual disability, severe||-|
|Loss of ability to walk in first decade||-|
|Neuronal loss in central nervous system||-|
|Photosensitive tonic-clonic seizures||-|
|Skeletal muscle atrophy||-|
|X-linked dominant inheritance||-|
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