GFER and Sotos syndrome: In addition, to investigate disease associations, we performed an analysis using Gene2Phenotype (https://www.ebi.ac.uk/gene2phenotype/, accessed 5 September 2025), in which we identified developmental disorder genes that were associated with altered DMBs and noted overlapping HPO terms between Sotos syndrome and the syndromes associated with the selected developmental disorder genes (see Supplementary Table S5).