ECE1 and Hirschsprung disease: Hofstra et al. described a patient with Hirschsprung disease, ductus arteriosus, small subaortic ventricular septal defect, and small atrial septal defect and dysmorphism, carrier of a missense mutation in ECE1 and they suggested that this variant may cause or contribute to the patient's phenotype (Hofstra et al., 1999).