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Ataxia - hypogonadism - choroidal dystrophy

ORPHA1180
Synonym(s) Boucher-Neuhäuser syndrome
Prevalence Unknown
Inheritance Autosomal recessive
Age of onset Childhood
ICD-10
  • G11.8
OMIM
UMLS -
MeSH -
MedDRA -

Summary

Ataxia - hypogonadism - choroidal dystrophy, also known as Boucher-Neuhäuser syndrome, is a very rare autosomal recessive and 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 impairement, and hypogonadotropic hypogonadism (delayed puberty and lack of secondary sex characteristics). Ataxia - hypogonadism - choroidal dystrophy belongs to a clinical continuum of neurodegenerative disorders along with the clinically overlapping Cerebellar ataxia - hypogonadism (see this term).


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Detailed information

Clinical genetics review
  • EN (2014)
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