46,XY sex reversal 4

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

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.

Signs and symptoms

• Upslanted palpebral fissure
• Trigonocephaly
• High palate
• Depressed nasal ridge
• Global developmental delay
• Sex reversal
• Anal atresia
• Long philtrum
• Anteverted nares
• Hypergonadotropic hypogonadism

Also known as: 46,XY gonadal dysgenesis, partial or complete, with 9p24.3 deletion; SRXY4; chromosome 9p24.3 deletion syndrome