WES has afforded discovery of genes previously not associated with DSD in humans such as FOG2/ZFPM2 (39), HHAT (40), FGFR1 (41), SOX8 (42), NR2F2 (43) and ZNRF3 (44) and variants in known genes in previously undescribed phenotypes such as for NR5A1 (1, 45, 46) or in previously unsuspected genes (47, 48, 49). This evidence concerns the gene ZNRF3 and disorder of sexual differentiation.