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 VPS13B and facial dysmorphism-immunodeficiency-livedo-short stature syndrome.