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Hypogonadotropic hypogonadism - retinitis pigmentosa

Orpha number ORPHA2235
Synonym(s) Chang-Davidson-Carlson syndrome
Prevalence <1 / 1 000 000
Inheritance Unknown
Age of onset No data available
ICD-10 -
ICD-O -
OMIM -
UMLS
  • C2931722
MeSH -
MedDRA -
SNOMED CT -

Summary

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.


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