Genetic analysis, using homozygosity mapping and WES, showed that patient S156‐V‐2 is carrying a nonsense mutation, p.[Arg798*];[Arg798*] in BRIP1/FANCJ gene, causing FA, a compound heterozygous mutation in EFCAB6 gene, p.[Arg108*];[Arg1497Trp] causing DSD and a missense mutation, p.[Gly1372Arg];[Gly1372Arg] in ERCC6 gene responsible for COFS syndrome. This evidence concerns the gene EFCAB6 and disorder of sexual differentiation.