MED13L patients show developmental delay and ID and many of the phenotypes also observed for MED13 and MED12 variants, such as ASD and hypotonia (Asadollahi et al., 2013; Adegbola et al., 2015; Cafiero et al., 2015; van Haelst et al., 2015; Torring et al., 2019; Plassche and Brouwer, 2021). The gene discussed is MED13; the disease is Global developmental delay.