Pathogenic variants in NR2F2 have been associated with congenital malformations, including congenital heart disease, congenital diaphragmatic hernia, and syndromic 46,XX testicular or ovo-testicular difference/disorder in sex development (DSD) (Polvani et al., 2019; Bashamboo et al., 2018). The gene discussed is NR2F2; the disease is disorder of sexual differentiation.