About 60% of CdLS cases are characterized by dominant heterozygous mutations in NIPBL. Mutations in SMC1A, SMC3, HDAC8 (a cohesin deacetylase), and RAD21 also cause CdLS or CdLS-like syndromes (Mannini et al., 2013). The gene discussed is SMC3; the disease is Cornelia de Lange syndrome.