Pathogenetic variants in the KAT6A gene, located on chromosome 8p11.21 cause Arboleda-Tham syndrome (ARTHS, OMIM #616268) or Mental retardation autosomal dominant 32 (MRD32), a recently described disorder affecting neurodevelopment and associated with ID (Arboleda et al., 2015; Tham et al., 2015). This evidence concerns the gene KAT6A and autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome.