Term Name: | Boucher-Neuhauser syndrome |
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Synonyms: | ataxia-hypogonadism-choroidal dystrophy syndrome |
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. |
Ontology: | Human Disease [DOID:0111265] ( DOID:0111265 ) |