| Disease ID | Source | Name | Description |
| 612674 | OMIM | Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract (PHARC) | A slowly progressive neurologic disorder with a variable phenotype resembling Refsum disease. Clinical features include sensorineural hearing loss, visual problems related to cataracts, retinitis pigmentosa, pes cavus, ataxic and/or spastic gait disturbances with a progressive sensorimotor peripheral neuropathy. Other features include hyporeflexia, hyperreflexia, extensor plantar responses. The disease is caused by variants affecting the gene represented in this entry. |