UBA5 and Global developmental delay: It’s noteworthy that individuals with mutations in Eg5 typically exhibit severe microcephaly and developmental delays [51–53], which closely resemble the phenotypes observed in patients with mutations in UBA5, UFM1, or UFC1. According to the gnomAD database, the allele frequency of c.1111 G > A (p.A371T) in UBA5 is reported as 0.0027, with a prevalence of over 60% in patients carrying this variant.