obsolete Heimler syndrome https://github.com/monarch-initiative/mondo/issues/3222 https://github.com/monarch-initiative/mondo/issues/7693 true Orphanet:3220 sensorineural hearing loss, enamel hypoplasia, and nail abnormalities bilateral sensorineural hearing loss, enamel hypoplasia and nail defects MESH:C535994 Heimler syndrome MONDO:0100229 deafness enamel hypoplasia nail defects OBSOLETE. A peroxisoome biogenesis disorder characterized by sensorineural hearing loss, enamel hypoplasia of the secondary dentition, nail abnormalities and occasional or late-onset retinal pigmentation abnormalities, in which the cause of the disease is a mutation in peroxisomal biogenesis factor 1 (PEX1) or peroxisomal biogenesis factor 6 (PEX6) genes. deafness-enamel hypoplasia-nail defects syndrome SCTID:721085000 peroxisome biogenesis disorder due to PEX1 defect