One of the potential SCMs was found in the intronic region of the pericentrin (PCNT) gene, which is known to be a causative gene of the congenital malformation, microcephalic osteodysplastic primordial dwarfism type II (MOPD2)18. The gene discussed is PCNT; the disease is microcephalic osteodysplastic primordial dwarfism type II.