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46,XY sex reversal 7
Summary
- Synonym
-
- 46,XY gonadal dysgenesis, partial or complete, DHH-related
- 46,XY sex reversal, partial or complete, DHH-related
- GDXYM
- SRXY7
- gonadal dysgenesis, XY, male limited
- 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 DHH on chromosome 12q13.12.
- Super Class
- 46,XY sex reversal autosomal recessive disease
External Links
- Disease Ontology
- DOID:0111774
- Mondo Disease Ontology
- OMIM
