Examples include association of: ARID1B with Coffin-Siris syndrome; PCNT with microcephalic osteodysplastic primordial dwarfism type II; IMPDH1 with Leber congenital amaurosis 11; PRDM8 with progressive myoclonic epilepsy-10; CITED2 with ventricular septal defect 2; and VAX1 with microphthalmia, cleft lip and palate, and agenesis of the corpus callosum [41]. The gene discussed is PCNT; the disease is ventricular septal defect 2.