Little over a decade ago, deleterious null mutations in the gene that encodes the integral membrane‐associated lipase ABHD12 were identified as the cause for the early onset human neurological disorder PHARC, which is clinically represented in human subjects as polymodal sensory and motor defects caused by peripheral neuropathy, coupled with an early onset of cataract (and/or blindness), and hearing loss. Here, ABHD12 is linked to PHARC syndrome.