| Symbol
| PHARC
|
| Location
| 20p11.21
|
| Name
|
polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract |
| Corresponding gene
|
ABHD12
|
| Main clinical features
|
early-onset cataract and hearing loss, retinitis pigmentosa, and involvement of both the central and peripheral nervous systems, including demyelinating sensorimotor polyneuropathy and cerebellar ataxia
|
| Genetic determination
| autosomal recessive |
| Related entries
| also cases with isolated retinitis pigmentosa (PMID: 24697911)
|
| Function/system disorder
| ear |
|
| eye |
|
| neurology |
| Type
| disease
|