Term Name: | 46,XY sex reversal 9 |
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Synonyms: | 46,XY sex reversal, ZFPM2-related, SRXY9 |
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. |
Ontology: | Human Disease [DOID:0111770] ( DOID:0111770 ) |