Majority of these mutations associated with multiple congenital abnormalities (20/27, 74.1%) clustered in the central region from SNF2 region to DUF1087 domain (specifically from residue 810 to 1345), while mutations with other phenotypes (including autism spectrum disorder, schizophrenia, pituitary stalk interruption syndrome, and epilepsy) were exclusively located outside this region (Figure 4), suggesting a molecular sub‐regional effect of CHD4 mutations. The gene discussed is CHD4; the disease is autism spectrum disorder.