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 cerebellum||90%|
|Decreased body weight||90%|
|Neurological speech impairment||90%|
|Aplasia/Hypoplasia of the corpus callosum||50%|
|Cerebral cortical atrophy||50%|
|Feeding difficulties in infancy||50%|
|Deeply set eye||7.5%|
|Skeletal muscle atrophy||7.5%|
|Abnormality of the foot||-|
|Intellectual disability, progressive||-|
|Intellectual disability, severe||-|
|Loss of ability to walk in first decade||-|
|Neuronal loss in central nervous system||-|
|Photosensitive tonic-clonic seizures||-|
|X-linked dominant inheritance||-|
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.
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