label: Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, and Cataract
label_lc: polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract
description: 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.