DISEASES

Disease-gene associations mined from literature

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 ...