Mutations in ABHD12 (OMIM: 613,599) are associated with polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract (PHARC) syndrome (OMIM: 612674), which is a rare autosomal recessive neurodegenerative disease. The gene discussed is ABHD12; the disease is Polyneuropathy - hearing loss - ataxia - retinitis pigmentosa - cataract.