Pathogenic heterozygous variants in this gene lean toward an extremely rare disorder named Timothy syndrome (OMIM: 601005), which is characterized by multisystem abnormalities consisting of facial dysmorphisms, cardiac, and limb anomalies, and neurologic features.35 Out of 16 patients with CACNA1C mutation, 14 patients (87%) had missense, and 2 (13%) had splice site mutations (Table 3). This evidence concerns the gene CACNA1C and Timothy syndrome.