Fisher’s Exact test (two-tailed) on the frequency of LOF and nonsynonymous variants associated with 46,XX DSD observed in our cohort, compared with rare (Minor Allelic Frequency [MAF] < 0.01%) LOF and nonsynonymous variants in the WT1 gene from control individuals, shows a highly significant enrichment of these WT1 variants in the patient cohort (P < 1.8 × 10−4). The gene discussed is WT1; the disease is disorder of sexual differentiation.