DNM1L pathogenic variants were initially linked to a lethal encephalopathy due to defective mitochondrial peroxisomal fission 1 (EMPF1, MIM#614388), but then DNM1L-related disorders (MIM*603850) have been associated with a phenotypic spectrum, including neonatal or infantile-onset encephalopathy with hypotonia, ataxia, peripheral neuropathy, varying degrees of epilepsy, and cognitive impairment with both recessive or dominant inheritance. Here, DNM1L is linked to Ataxia.