Mutations in WDR62 have been associated with primary microcephaly 2 (MCPH2), with or without cortical malformations.14,16,17 This is a disease characterized by microcephaly associated with other manifestation and showing a wide phenotypic variability.18 Associated features include modest to severe mental retardation, and numerous type of cortical malformations in patients with primary microcephaly. Here, WDR62 is linked to microcephaly.