This connection of eIF5A to human health has been brought to light by the identification of germline variants of EIF5A, DHPS, or DOHH. Recently, de novo heterozygous EIF5A variants have been associated with an autosomal dominant disorder, Faundes–Banka syndrome that is characterized by developmental delay, intellectual disability, microcephaly, micrognathia, or craniofacial dysmorphism (Faundes et al. 2021). Here, DOHH is linked to Global developmental delay.