Disease

46,XY sex reversal 5

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 homozygous or compound heterozygous mutation in the CBX2 gene on chromosome 17q25.3.
Synonyms
  • 46,XY gonadal dysgenesis, complete, CBX2-related
  • 46,XY sex reversal, CBX2-related
Cross References
Parent Terms
Child Terms
None
Sources of Associations

Associated Genes

Associated Alleles

Associated Models