,51 Another heterozygous variant in this gene has been previously reported as a disease-causing variant/modifier in combination with variants in the MAMLD1, CDH23, NOTCH1, and MAML1 genes in a 46,XY DSD individual with female-typical external genitalia, and has therefore been suggested an oligogenic DSD.16 The gene discussed is MAML1; the disease is disorder of sexual differentiation.