Recently, two studies reported patients with pathogenic variants of SHQ1 with neurological disorders; Bizarro and Meier7 reported singletons with intrauterine growth retardation coupled with a severe-onset neurological disease inclusive of cerebellar degeneration, whereas Sleiman et al.6 studied two separate families harboring four patients (two individuals in each family) with early-onset dystonia, hypotonia, seizure disorder, and global developmental delay (GDD)6. Here, SHQ1 is linked to Global developmental delay.