46,XX sex reversal 5

Term ID

DOID:0080943

Synonyms

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. https://pubmed.ncbi.nlm.nih.gov/29478779/

References

• MIM:618901

Ontology

Human Disease   ( DOID:0080943 )