Homozygous missense mutations in XRCC4 can induce severe microcephaly (Shaheen et al., 2014; Bee et al., 2015; de Bruin et al., 2015; Guo et al., 2015; Murray et al., 2015; Rosin et al., 2015). The gene discussed is XRCC4; the disease is microcephaly.