Among the 451 genes carrying variation(s), there were seven genes known to be DSD causing or DSD candidates (Table S1) [26,27,28,29], namely DHCR7 (7-dehydrocholesterol reductase; 11q13.4), DYNC2H1 (dynein cytoplasmic 2 heavy chain 1; 11q22.3), FREM2 (FRAS1 related extracellular matrix 2; 13q13.3), SPECC1L (sperm antigen with calponin homology and coiled-coil domains 1 like; 22q11.23), SPECC1L-ADORA2A (SPECC1L-ADORA2A readthrough; 22q11.23), BBS9 (Bardet-Biedl syndrome 9; 7p14.3) and WT1. This evidence concerns the gene BBS9 and disorder of sexual differentiation.