EMC1 and Cerebellar atrophy: Mutations in EMC1 have been associated with GDD in several studies (Harel et al., 2016; Geetha et al., 2018; Gao et al., 2019; Sun et al., 2019; Jin et al., 2021; Dhindsa et al., 2022) (Figure 2), where the affected individuals showed variable clinical presentation with major findings such as global developmental delay, cerebellar atrophy, psychomotor retardation, hypotonia, and visual impairment (Supplementary Table 1).