Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract
| Disease Term | Disease ID | Gene Symbol | References |
|---|---|---|---|
| Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract | C2675204 | ABHD12 | 24697911, 24027063, 20797687, 25743180, 22938382, 28448692, 29571850, 27890673 |
| Polyneuropathy-hearing loss-ataxia-retinitis pigmentosa-cataract syndrome | 171848 | ABHD12 |