Rubinstein-Taybi syndrome type 2 (RSTS2; OMIM #613684) is a rare autosomal dominant disorder caused by loss-of-function variants in the EP300 gene (OMIM #602700), characterized by intellectual disability, distinctive craniofacial features, and skeletal anomalies. This evidence concerns the gene EP300 and Rubinstein-Taybi syndrome due to EP300 haploinsufficiency.