As shown in Figure 3B, impairment in higher brain functions played a major role in determining the phenotype, with a difference among the DRP1 domains: encephalopathy and developmental regression were prevalent in patients with a pathogenic variant in the middle and GED domains, whereas peripheral neuropathy, ataxia, dystonia and spasticity were more frequent in pathogenic variants of the GTPase domain. Here, DNM1L is linked to peripheral neuropathy.