Based on the small case series of CdLS patients with RAD21 variants reported so far, face and limb manifestations of CdLS seem to be less pronounced compared to individuals with variants in the other cohesin complex genes, and the impact on cognitive functioning seems attenuated, without clear genotype–phenotype correlation (Kline et al. 2018; Minor et al. 2014). This evidence concerns the gene RAD21 and Cornelia de Lange syndrome.