Mutations in genes encoding various subunits of BAF complex often lead to what is known as SWI/SNF-related intellectual disability (ID) or BAFopathies, including Coffin–Siris syndrome (CSS), Nicolaides–Baraitser syndrome and other ID disorders, which share phenotypic features of developmental delay, ID, coarse facial features and phalangeal abnormalities (20,21). This evidence concerns the gene BANF1 and Coffin-Siris syndrome.