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46,XX sex reversal 5
Summary
- Definition
- A 46,XX sex reversal that is characterized by genital virilization in 46,XX individuals, associated with congenital heart disease and variable somatic anomalies including blepharophimosis-ptosis-epicanthus inversus syndrome and congenital diaphragmatic hernia and that has_material_basis_in heterozygous mutation in the NR2F2 gene on chromosome 15q26.
- Super Class
- 46,XX sex reversal autosomal dominant disease
External Links
- Disease Ontology
- DOID:0080943
- Mondo Disease Ontology
- OMIM
