Association analysis between segmental deletions along 22q13 and macrocephaly compared to normocephaly identified two genomic regions that were significantly associated with macrocephaly, one in 22q13.2 with 14 genes was significantly associated for those with SHANK3 preserved, and the other around 22q13.31 with 22 genes that was significantly associated for those with SHANK3 deleted. Here, SHANK3 is linked to Macrocephaly.