Version: 8.0.0
Date: Tue Jan 28 2025
46,XY sex reversal 10
DOID:0111775
SummaryAssociated GenesAssociated AllelesAssociated Models
Disease

46,XY sex reversal 10

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 deletion of a region upstream of the SOX9 gene on chromosome 17q24.
Synonyms
  • chromosome 17q24 deletion syndrome
  • SRXY10
Cross References
Parent Terms
Child Terms
None
Sources of Associations

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