Fig. 4

Heatmap of patient–control comparisons for CpGs that are common to minimum 2 of 3 selected categories. A On the left relationship to the gene categories is indicated, GO:0022008—Neurogenesis, DGN:C0557874—Global developmental delay. DGN:C0025958—Microcephaly. 373 genes were common to minimum 2 of 3 of the categories and the top 100 of these genes are shown in the heatmap by the CpG that is most strongly changed in the patients/controls. Colors in the heatmap indicate the difference in (log2) M values between patient and matched control. On the top of the heatmap is the size of the patient deletion (calculated from Fig. 3A) and relevant symptoms as reported by a patient questionnaire. B–E Beta values of selected CpGs who are also associated with bivalent marks are demonstrated