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46,XY sex reversal 5
Summary
- Synonym
-
- 46,XY gonadal dysgenesis, complete, CBX2-related
- 46,XY sex reversal, CBX2-related
- SRXY5
- disorder of sex development, 46,XY, CBX2-related
- sex reversal, XY, CBX2-related
- 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.
- Super Class
- 46,XY sex reversal autosomal recessive disease
External Links
- Disease Ontology
- DOID:0111776
- Mondo Disease Ontology
- MeSH
- OMIM
