Boucher-Neuhauser syndrome (DOID:0111265)
Alliance: disease page
Synonyms: ataxia-hypogonadism-choroidal dystrophy syndrome
Alt IDs: OMIM:215470, MESH:C565850, ORDO:1180, UMLS_CUI:C1859093
Definition: A syndrome characterized by spinocerebellar ataxia, hypogonadotropic hypogonadism, and chorioretinal dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in PNPLA6 on 19p13.2.