Despite the classical definition of MCPH as a severe congenital microcephaly lacking morphological abnormalities of the brain, it is now acknowledged that particularly MCPH patients with WDR62 mutations may have a wide spectrum of brain malformations in addition to microcephaly including pachygyria, thickened cortex, polymicrogyria, schizencephaly, corpus callosum, and hippocampal abnormalities as well as cerebellar hypoplasia [4,7,12], in line with the phenotype of the index patient (Table 1). Here, WDR62 is linked to microcephaly.