UBA5 and Global developmental delay: The clinical phenotype of previously reported patients with UBA5 (Colin et al., 2016; Duan et al., 2016; Muona et al., 2016) and UFM1 (Hamilton et al., 2017) mutations are similar to our UFM1 and UFC1 patients, particularly regarding failure to thrive, short stature, microcephaly, GDD, seizures, basal ganglia abnormality, delayed CNS myelination, and cerebellar hypoplasia (Table 2).