Collectively, defects in the human counterparts of several of these genes cause multiorgan syndromes called cohesinopathies, including Cornelia de Lange syndrome (CdLS; SMC3) and chronic atrial and intestinal dysrhythmia (SGOL1/SGO1) that are associated with developmental and skeletal abnormalities, cardiovascular anomalies, visceral defects as well as behavioural and neurological disorders33. The gene discussed is SMC3; the disease is Cornelia de Lange syndrome.