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Hypogonadotropic hypogonadism-retinitis pigmentosa syndrome

Disease definition

This syndrome is characterized by the association of hypogonadotropic hypogonadism (with primary amenorrhea and lack of secondary sexual development) and retinitis pigmentosa (see this term). It has been described in two sisters born to nonconsanguineous parents.


  • Synonym(s):
    • Chang-Davidson-Carlson syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Unknown 
  • Age of onset: No data available
  • ICD-10: -
  • OMIM: -
  • UMLS: C2931722
  • MeSH: -
  • GARD: 1234
  • MedDRA: -

Detailed information


Additional information

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