Term Name:	Boucher-Neuhauser syndrome
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 )