ISCA2 and Fatal multiple mitochondrial dysfunction syndrome type 2: Mutations in this gene cause multiple mitochondrial dysfunctions syndrome 4 (MMDS4), which has MRI features similar to LBSL and HBSL including signal changes in the periventricular WM, corpus callosum, posterior limb of the IC, cerebellar WM and cerebellar peduncles (Al-Hassnan et al., 2015; Alaimo et al., 2018; Toldo et al., 2018; Eidi and Garshasbi, 2019; Hartman et al., 2020).