Nineteen of the 30 genes (AP4E1, AP4M1, ASPM, AUTS2, CDK5RAP2, CENPJ, CEP41, CTCF, DCX, DONSON, EHMT1, HERC1, KPTN, LAMC3, MCPH1, ORC1, SLC16A2, TCF4, and TMEM165) are linked to highly or fully penetrant brain structural abnormalities (mainly microcephaly/macrocephaly) in many patients and for which 4 genes (ASPM, CENPJ, DCX, and LAMC3) had been previously reported using mouse models, while the remaining 15 are new in vivo mouse models exhibiting equivalent neuroanatomical defects to humans (with the exception of DONSON). The gene discussed is AP4E1; the disease is Macrocephaly.