Typical symptoms of the known MVA syndromes caused by mutations in BUBR1, CEP57, and TRIP13 are intrauterine growth retardation, mental retardation, microcephaly, and childhood cancer (Hanks et al., 2004; Snape et al., 2011; Yost et al., 2017), none of which were observed in the patient (Table S1). Here, BUB1B is linked to microcephaly.