Hemizygous missense substitutions in TAF1 were identified in two individuals with CdLS (clinical scores 12 and 10), whereas two individuals were found to carry homozygous missense variants in TAF6 (clinical scores 11 and 4) (O’Rawe et al., 2015; Yuan et al., 2015; Cheng et al., 2020; Tuc et al., 2020). This evidence concerns the gene TAF6 and Cornelia de Lange syndrome.