Partially overlapping phenotypes were observed in individuals with pathogenic variants in NAT genes, including developmental delay, intellectual disability, congenital heart disease and autism spectrum disorder (NAA10 and NAA15)46–51, developmental delay, intellectual disability, and microcephaly (NAA2052,53), developmental delay (NAA30)54, hearing loss, muscle weakness and developmental delay (NAA80, the actin-specific NAT)55,56. The gene discussed is BRD2; the disease is congenital heart disease.