Highlighting their functional importance, genetic alterations in ARID1A and CREBBP often have pathological consequence: germline substitutions lead to developmental disorders, including Coffin-Siris syndrome 2 (ARID1A loss-of-function mutations), Rubinstein–Taybi syndrome (CREBBP loss-of-function mutations) and Menke–Hennekam Syndrome (CREBBP missense mutations) [32], while somatic alterations are recurrently observed across multiple cancer types (Supplementary Fig. S4C and D). This evidence concerns the gene CREBBP and intellectual disability, autosomal dominant 14.