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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: -

Detailed information

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