The combinations varied between individuals, though common variants were identified in genes such as TBCE, FLNB, GLI3 and PDGFRA. In addition, variants in eight different genes were more frequently identified together with NR5A1/SF-1 variants in 15 index cases; these genes were all previously associated with DSD, including CDH23, FLNB, GLI2, KAT6B, MYO7A, PKD1, SPRY4, and ZFPM2. Furthermore, two individuals had additional candidate variants in DSD-related genes, but they were not predicted to form oligogenic combinations with the NR5A1/SF-1 variants in ORVAL. Here, TBCE is linked to disorder of sexual differentiation.