ABHD12 and PHARC syndrome: Twenty-seven different pathogenic ABHD12 variants associated with PHARC syndrome have been identified thus far, with the most common pathogenic variant being c.337_338delGAinsTTT (~ 32%; 12 out of 37 families) in exon 3, which predicts the replacement of an asparagine at codon 113 with phenylalanine and a frameshift mutation (p.Asp113Phefs*15).