SHH and disorder of sexual differentiation: These include the genes AR, CHD7, FGFR1, NR5A1, PROK2, PROKR2, RXFP2, and ZFPM2. P/LP variants were carried by 14 subjects (DSD cases 92, 94, 95, 100, 105, 107, 113 and 116–122) carried in genes that are known to cause syndromic forms of DSD including FANCB, FGFR3, FOXP1, GLI3, GPC3, HOXA13, KAT6B, MYRF, NIPBL, NRAS, OFD1, PRKAR1A, ROR2, SHH, SLC29A3 and SOS1. In each of these 14 cases the variants explained partially or totally the phenotype.