Version: 8.0.0
Date: Tue Jan 28 2025
46,XY sex reversal 9
DOID:0111770
SummaryAssociated GenesAssociated AllelesAssociated Models
Disease

46,XY sex reversal 9

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 ZFPM2 gene on chromosome 8q23.1.
Synonyms
  • 46,XY sex reversal, ZFPM2-related
  • SRXY9
Cross References
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