In fact, mutations in SETD2 have been described in Sotos syndrome, a childhood overgrowth condition with macrocephaly (94), and in an ASD proband, also presenting macrocephaly (5,95), while disruptive mutations in SETD5—a newly described H3K36me3 methyltransferase (96)—are associated with ID/ASD (1,76–79) (97) and 3p25.3 microdeletion syndrome (98). The gene discussed is SETD5; the disease is Macrocephaly.