DGS, ICF syndrome, 3MC syndrome type 2 (COLEC11 deficiency), Cohen syndrome (COH1 deficiency), ITCH deficiency, STAT5B deficiency, FILS syndrome, RNF168 deficiency, Kabuki Syndrome, Bloom syndrome, ICF, Cernunnos (XLF). This evidence concerns the gene COLEC11 and 3MC syndrome 2.