In addition, a 26-year-old male with a 165-kb deletion involving EHMT1 and CACNA1B gene (case 57, Additional file 2: Table S1) also presented clinical features which were typical for 9q34.3 deletion syndromes including mental retardation, developmental delay, speech delay, motor delay, learning disability, autism spectrum disorder, asymmetry of temporal lobe, localized polymicrogyria, loping gait and scoliosis [11]. The gene discussed is CACNA1B; the disease is Global developmental delay.