ABHD12 and Polyneuropathy - hearing loss - ataxia - retinitis pigmentosa - cataract: Whole-exome sequencing (WES), followed by segregation analysis, confirmed a novel biallelic mutation in ABHD12. We also compared the clinical presentation and molecular findings of these patients with the previous reports of PHARC syndrome to gain a better realization of the genotype-phenotype correlations of ABHD12.