Disease

46,XY sex reversal 6

Definition
A 46 XY sex reversal characterized by an XY karyotype, phenotypically female genitalia and failure to develop secondary sexual characteristics at puberty including menstruation that has_material_basis_in heterozygous mutation in the MAP3K1 gene on chromosome 5q11.2.
Synonyms
  • 46,XY gonadal dysgenesis, partial or complete, MAP3K1-related
  • 46,XY sex reversal, partial or complete, MAP3K1-related
Cross References
Parent Terms
Child Terms
None
Sources of Associations

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