46,XY sex reversal 4

Term ID

DOID:0111771

Synonyms

• 46,XY gonadal dysgenesis, partial or complete, with 9p24.3 deletion
• chromosome 9p24.3 deletion syndrome
• SRXY4

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 but with the absence of other features of the chromosome 9p deletion syndrome that has_material_basis_in heterozygous deletion of a region on chromosome 9p. (3)

References

• MESH:C567887
• OMIM:154230

Ontology

Human Disease   ( DOID:0111771 )