ataxia-hypogonadism-choroidal dystrophy syndrome
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.
MONDO:0015770
congenital hypogonadotropic hypogonadism
is_a
MONDO:0100309
hereditary ataxia
is_a
BNHS
exact
Boucher-Neuhauser syndrome
exact
Boucher-Neuhchäuser syndrome
exact
Boucher-Neuhäuser syndrome
exact
ataxia - hypogonadism - choroidal dystrophy
related
chorioretinal dystrophy, spinocerebellar ataxia and hypogonadotropic hypogonadism
exact
spinocerebellar ataxia, hypogonadotropic hypogonadism, and chorioretinal dystrophy
exact
SPCC4B3.04c