Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, and Cataract

**Semantic type:** Disease or Syndrome

**Definition:** An autosomal recessive condition caused by mutation(s) in the ABHD12 gene, encoding lysophosphatidylserine lipase ABHD12. It is characterized by polyneuropathy, hearing loss, ataxia, retinitis pigmentosa and cataract.

**Synonyms:** - PHARC