In humans, ZBTB18 mutations are associated with microcephaly, intellectual disability, epilepsy and macrocephaly (Cohen et al., 2017; de Munnik, Garcia‐Minaur, Hoischen, et al., 2014; Depienne et al., 2017; Hemming et al., 2016; van der Schoot et al., 2018). Here, ZBTB18 is linked to Macrocephaly.