Mutations in ABHD12 (MIM no. 613599) on human chromosome 20p11.21 have been associated with a rare, autosomal recessive syndrome characterized by (demyelinating) polyneuropathy, hearing loss, (cerebellar) ataxia, retinitis pigmentosa, and (early-onset) cataract (PHARC—MIM no. 612674) (Fiskerstrand et al. 2010; Nishiguchi et al. 2014; Nguyen et al. 2021). Here, ABHD12 is linked to cerebellar ataxia.