Disease association ontology term - MONDO:0008980 - ataxia-hypogonadism-choroidal dystrophy syndrome
Term summary
- ID
- MONDO:0008980
- Name
- ataxia-hypogonadism-choroidal dystrophy syndrome
- Ontology or CV name
- Disease association
- Definition
- 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.
