Fig. 1: Schematic overview of the study cohort.

A Overview of all cases that underwent DNAm signature testing, split for targeted analysis (left) and comprehensive analysis (right). Indicated are the number of cases per group and the various yields. B Pie chart showing the distribution of clinical indications for the 223 cases subjected to comprehensive DNAm signature testing. The number between parentheses indicates the number of cases with a positive DNAm signature per indication group. See Table S2 for a full overview of all indication groups. For simplicity of the pie chart, we merged under the “Others +  isolated phenotypes” (n = 36) category the subgroups “Growth delay” (n = 16), “Epilepsy” (n = 11), “Obesity” (n = 3), “ASS/behavioral anomalies” (n = 2), and “others” (n = 4). Also, we merged the subgroups “DD/ID + short stature” (n = 15) and “DD/ID + tall stature/overgrowth” (n = 3) into “DD/ID + short/long stature” (n = 18). C Pie chart showing the 11 cases with a positive DNAm signature and matching clinical phenotype and their indications for testing. D as (C), but now for the 9 cases with positive DNAm signature, matching clinical phenotype and molecular confirmation.