Version: 8.0.0
Date: Tue Jan 28 2025
46,XY sex reversal 2
DOID:0111777
SummaryAssociated GenesAssociated AllelesAssociated Models
Disease

46,XY sex reversal 2

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 hemizygous duplication of the NR0B1 gene on chromosome Xp21.2.
Synonyms
  • 46,XY sex reversal, DAX1-related
  • 46XY sex reversal 2, dosage-sensitive
Cross References
Parent Terms
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