Term Name: | 46,XY sex reversal 10 |
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Synonyms: | chromosome 17q24 deletion syndrome, SRXY10 |
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. |
Ontology: | Human Disease [DOID:0111775] ( DOID:0111775 ) |