Their phenotypes were similar to those of patients with OSGEP variants reported by Braun et al. (2017), which included microcephaly, severe deformation of the forehead, reduced gyration, diffuse cortical atrophy, focal segmental glomerulosclerosis, and foot process effacement resulting from massive proteinuria (Braun et al., 2017). Here, OSGEP is linked to microcephaly.