Our eight MAMLD1 individuals share variants in 19 genes comprised in such DSD panels, including ATF3, BNC2, CUL4B, EVC, FLNA, FRAS1, FREM2, GLI3, HOXA13, HSD3B2, IRX5, NOTCH2, PROP1, PTPN11, RECQL4, RET, RIPK4, WDR11 and ZBTB16. By contrast, through our work 22 new genes are now added for considering with differences in sex development: CDH23, COL9A3, CYP1A1, DAPK1, EMX2, EYA1, FGF10, GLI2, GRID1, IGFBP2, IRX6, MAML1, MAML2, MAML3, MYO7A, NOTCH1, NRP1, PIK3R3, PPARGC1B, TGFBI, WNT9A and WNT9B. Here, GLI2 is linked to disorder of sexual differentiation.