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) |
| Incoordination | 90% |
| Optic atrophy | 90% |
| Sensorineural hearing impairment | 90% |
| Abnormal electroretinogram | 7.5% |
| Myopathy | 7.5% |
| Ophthalmoparesis | 7.5% |
| Ptosis | 7.5% |
| Areflexia | - |
| Blindness | - |
| Dysarthria | - |
| Dysmetria | - |
| Dystonia | - |
| Episodic generalized hypotonia | - |
| Gait ataxia | - |
| Hemiparesis | - |
| Muscle weakness | - |
| Nystagmus | - |
| Pes cavus | - |
| Progressive sensorineural hearing impairment | - |
| Truncal ataxia | - |
| Visual loss | - |
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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