This gene encodes neuropathy target esterase (NTE) and is associated with a phenotypic continuum encompassing several syndromes, including: Boucher-Neuhauser syndrome (BNS; MIM #215470), Gordon-Holmes syndrome (GHS; MIM #212840), Oliver-McFarlane syndrome (OMCS; MIM,#275400), Lawrence-moon syndrome (LMS; MIM #245800) and spastic paraplegia type 39 (SPG39; MIM #612020) (OMIM, 2025). Here, PNPLA6 is linked to Ataxia - hypogonadism - choroidal dystrophy.