De novo mutations in CLTC underlie a wide spectrum of infantile and childhood neurodevelopmental phenotypes, including developmental and epileptic encephalopathy (DEE), movement disorders (MD), and intellectual disability (ID) (DeMari et al., 2016; Lelieveld et al., 2016; Hamdan et al., 2017; Nabais Sá et al., 2020; Fernández-Mayoralas et al., 2021; Itai et al., 2022). This evidence concerns the gene CLTC and Menkes disease.