The most prevalent symptoms of affected individuals who harbored CACNA1C mutation were cardiac anomaly (68.7%) comprising tetralogy of Fallot, left ventricular noncompaction, ventricular septal defect, patent ductus arteriosus, and endocardial fibroelastosis, facial dysmorphism (56.2%), DD (50%), ID (50%), abnormal digit morphology such as syndactyly (43.7%), seizure (43.7%), abnormality of the respiratory system (37.5%), flexion contracture (31.2%), and behavioral abnormality (25%). Here, CACNA1C is linked to ventricular septal defect 1.