AKT3 and Intellectual disability: Notably, human germline and somatic mutations and copy-number variations (CNVs) impacting the 1q44 locus and AKT3 have been identified in a range of developmental brain malformation syndromes, including microcephaly [45,46], hemimegalencephaly [47,48] and megalencephalic syndromes [49], all of which are characterized by intellectual disability.