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45,X/46,XY mixed gonadal dysgenesis

Disease definition

45,X/46,XY mixed gonadal dysgenesis (45,X/46,XY MGD) is a disorder of sex development (DSD) associated with a numerical sex chromosome abnormality resulting from Y-chromosome mosaicism and leading to abnormal gonadal development.

ORPHA:1772

Classification level: Disorder
  • Synonym(s):
    • 45,X/46,XY MGD
    • 45,X0/46,XY MGD
    • 45,X0/46,XY mixed gonadal dysgenesis
  • Prevalence: Unknown
  • Inheritance: Not applicable or Unknown 
  • Age of onset: All ages
  • ICD-10: Q98.7
  • OMIM: -
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -

Detailed information

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