NR5A1 and disorder of sexual differentiation: This male with a severe 46,XY DSD phenotype (index case 18, Table 3, Fig. 3, Fig. 5a) inherited a heterozygous NR5A1/SF-1 variant (c.937C > T, p.Arg313Cys) from his healthy father; the mother was wild-type (WT) for NR5A1/SF-1.