DOLK and Global developmental delay: DK1-CDG, which is caused by homozygous or heterozygous compound mutations in the DOLK gene, is mainly characterized by developmental delays, seizures, other neurological symptoms, muscular hypotonia, ichthyosis and cardiac defects (Kranz et al., 2007a; Kranz et al., 2007b; Lefeber et al., 2011; Kapusta et al., 2013; Lieu et al., 2013; Marques-da-Silva et al., 2017; Komlosi et al., 2021; Yu et al., 2022).