Orphanet: Ataxia hypogonadism choroidal dystrophy syndrome

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Ataxia-hypogonadism-choroidal dystrophy syndrome

Disease definition

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 (see this term).

ORPHA:1180

Classification level: Disorder

Synonym(s):
- Boucher-Neuhäuser syndrome
Prevalence: Unknown
Inheritance: Autosomal recessive
Age of onset: Childhood
ICD-10: G11.8
OMIM: 215470
UMLS: C1859093
MeSH: -
GARD: 944
MedDRA: -

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Ataxia-hypogonadism-choroidal dystrophy syndrome

ORPHA:1180

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