has material basis in germline mutation in PNPLA6 ataxia-hypogonadism-choroidal dystrophy syndrome https://www.malacards.org/card/boucher_neuhauser_syndrome_2 Boucher-Neuhäuser syndrome MESH:C565850 Boucher-Neuhchäuser syndrome UMLS:C1859093 SCTID:715984007 chorioretinal dystrophy, spinocerebellar ataxia and hypogonadotropic hypogonadism Ataxia-hypogonadism-choroidal dystrophy syndrome is a very rare autosomal recessive, slowly progressive neurodegenerative disorder characterized by the triad of cerebellar ataxia (that generally manifests at adolescence or early adulthood), chorioretinal dystrophy, which may have a later onset (up to the fifth-sixth decade) leading to variable degrees of visual impairment, and hypogonadotropic hypogonadism (delayed puberty and lack of secondary sex characteristics). Ataxia-hypogonadism-choroidal dystrophy syndrome belongs to a clinical continuum of neurodegenerative disorders along with the clinically overlapping cerebellar ataxia-hypogonadism syndrome. OMIM:215470 BNHS Boucher-Neuhauser syndrome MONDO:0008980 MEDGEN:347798 DOID:0111265 spinocerebellar ataxia, hypogonadotropic hypogonadism, and chorioretinal dystrophy ataxia - hypogonadism - choroidal dystrophy Orphanet:1180 GARD:0000944 congenital hypogonadotropic hypogonadism hereditary ataxia