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) |
| Areflexia | - |
| Autosomal recessive inheritance | - |
| Broad-based gait | - |
| Distal muscle weakness | - |
| Distal sensory impairment | - |
| Distal upper limb amyotrophy | - |
| Gait ataxia | - |
| Joint contracture of the hand | - |
| Optic atrophy | - |
| Pectus excavatum | - |
| Peripheral demyelination | - |
| Positive Romberg sign | - |
| Progressive sensorineural hearing impairment | - |
| Short thumb | - |
| Thoracic scoliosis | - |
| Ulnar deviation of the hand | - |
| Variable expressivity | - |
| Visual impairment | - |
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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