ESR2 and disorder of sexual differentiation: Although we did not expect to discover variants involved in proximal steroidogenic blocks with adrenal or biochemical phenotypes (e.g., STAR, CYP11A1, HSD3B2, CYP17A1, POR, CYB5A) or associated with specific features (e.g., SOX9, campomelic dysplasia; GATA4/ZFPM2, cardiac; WT1, renal), we did not find likely pathogenic variants in other DSD-associated genes such as MAP3K1, SOX8, ESR2, or ZNRF3.