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46,XY complete gonadal dysgenesis

Disease definition

46,XY complete gonadal dysgenesis (46,XY CGD) is a disorder of sex development (DSD) associated with anomalies in gonadal development that result in the presence of female external and internal genitalia despite the 46,XY karyotype.

ORPHA:242

  • Synonym(s):
    • 46,XY CGD
    • 46,XY pure gonadal dysgenesis
    • Swyer syndrome
  • Prevalence: Unknown
  • Inheritance: Autosomal dominant or Autosomal recessive or Y-linked or X-linked recessive 
  • Age of onset: Adolescent, Adult
  • ICD-10: Q99.1
  • OMIM: 154230  233420  300018  400044  612965  613080  613762  616425
  • UMLS: C0018054  C2936694
  • MeSH: -
  • GARD: 5068
  • MedDRA: -

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