Term Name: 46,XY sex reversal 9
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 )

Relationships
is a type of: 46,XY complete gonadal dysgenesis autosomal dominant disease