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Cerebellar ataxia-hypogonadism syndrome

Disease definition

Cerebellar ataxia-hypogonadism 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 syndrome belongs to a clinical continuum of neurodegenerative disorders along with clinically overlapping disorders such as ataxia-hypogonadism-choroidal dystrophy syndrome (see this term).

ORPHA:1173

  • Synonym(s):
    • Gordon-Holmes syndrome
    • Luteinizing hormone-releasing hormone deficiency with ataxia
  • Prevalence: Unknown
  • Inheritance: Autosomal recessive 
  • Age of onset: Adolescent, Adult, Childhood
  • ICD-10: G11.8
  • OMIM: 212840  605672
  • UMLS: C1859305
  • MeSH: -
  • GARD: 3314
  • MedDRA: -

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