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Summary Literature (0)
DOID:0111265 - Boucher-Neuhauser syndrome

Disease Ontology 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.

Synonyms: ataxia-hypogonadism-choroidal dystrophy syndrome,

Xenbase Genes : pnpla6



Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): autosomal recessive disease (is_a), syndrome (is_a)