To validate the specificity of SETD2-1740 and SETD2-LLS methylation episignatures compared with those of KMT2B-related childhood-onset dystonia and KMT2D-related Kabuki syndrome type 1 cohort, unsupervised clustering was performed and 29 significant DMBs could successfully discriminate SETD2 NDDs from other NDDs (see Supplementary Material, Figs S4 and S5 and Supplementary Material, Table S8). Here, SETD2 is linked to Kabuki syndrome 1.