Among the 20 cases, we found patient NWM-021D had the episignature specific for MRD23_KBG, intellectual developmental disorder, autosomal dominant 23 syndrome (formally mental retardation, autosomal dominant 23 syndrome) and KBG syndrome (Figure S5, bottom), although CMA/ES analyses failed to identify deleterious variants in either of the associated genes, i.e., SETD5 and ANKRD11. Among the possible explanations, there may be a missed variant in these genes or a yet unknown genes associated with this episignature.10 The gene discussed is SETD5; the disease is KBG syndrome.