Conversely, macrocephaly has been shown to occur in a subset of ASD patients harboring disruptive mutations in the ASD-linked chromodomain helicase DNA binding protein 8 (Chd8) gene or deletions in 17q12 (Moreno-De-Luca et al., 2010; Bernier et al., 2014). This evidence concerns the gene CHD8 and Macrocephaly.