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Cerebellar ataxia - hypogonadism

ORPHA1173
Synonym(s) Gordon-Holmes syndrome
Luteinizing hormone-releasing hormone deficiency with ataxia
Prevalence Unknown
Inheritance Autosomal recessive
Age of onset All ages
ICD-10
  • G11.8
OMIM
UMLS -
MeSH -
MedDRA -

Summary

Cerebellar ataxia - hypogonadism, also known as Gordon-Holmes syndrome, is a very rare autosomal recessive neurodegenerative disorder characterized by the combination of progressive cerebellar ataxia with onset from early childhood to the fourth decade, and hypogonadotropic hypogonadism (delayed puberty and lack of secondary sex characteristics). Cerebellar ataxia - hypogonadism belongs to a clinical continuum of neurodegenerative disorders along with clinically overlapping disorders such as Ataxia - hypogonadism - choroidal dystrophy (see this term).


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Detailed information

Clinical genetics review
  • EN (2014)
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