Term Name: 46,XY sex reversal 10
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 )

Relationships
is a type of: 46,XY sex reversal autosomal dominant disease chromosomal deletion syndrome