Examples include association of IMPDH1 with Leber congenital amaurosis 11, ARID1B with Coffin-Siris syndrome, PRDM8 with progressive myoclonic epilepsy-10, PCNT with microcephalic osteodysplastic primordial dwarfism type II, CITED2 with ventricular septal defect 2, and VAX1 with microphthalmia, cleft lip and palate, and agenesis of the corpus callosum. This evidence concerns the gene PRDM8 and Progressive myoclonic epilepsy.