In addition, our patients with small deletions of the DOCK8 gene had very strong family history (case 13/14, 17, 20/21 Additional file 2: Table S1) and shared similar clinical features, including developmental delay and intellectual disability (4 out of 5 cases), speech and motor delay (3), learning disability (2), behavior problems or autism (3), macrocephaly (2), dysmorphic or congenital anomalies (4). The gene discussed is DOCK8; the disease is Global developmental delay.