EFCAB6 and disorder of sexual differentiation: By analyzing 37 genes reported as being involved in DSD (Kyriakou, Lucas‐Herald, McGowan, Tobias, & Ahmed, 2015) and the genes they interact with, a novel compound heterozygous mutation in EFCAB6 gene, a nonsense and a missense mutations c.[322C>T];[4489C>T]: p.[Arg108*];[Arg1497Trp] affecting respectively exon 4 and exon 32 were identified.