When 16p11.2 CNV deletion event occurs, it may lead to a decrease of POLDIP1 levels in patients with macrocephaly, epilepsy, ASD, et al. When 16p11.2 CNV duplication event occurs, it may lead to an increase of POLDIP1 levels in patients with microcephaly, autism. The gene discussed is KCTD13; the disease is Macrocephaly.