Human genes for 46,XY sex reversal 7
46,XY sex reversal 7 [DOID:0111774]
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.
Synonyms: 46,XY sex reversal 7, 46XY sex reversal 7, DOID:0111774, 46,XY gonadal dysgenesis, partial or complete, DHH-related, 46,XY sex reversal, partial or complete, DHH-related ...