CACNA1C and Timothy syndrome: In original reports, CACNA1C variants were related to the multisystemic condition known as Timothy syndrome (TS, MIM # 601005), which is characterized by a variable association of cardiac involvement (as abovementioned), cutaneous syndactyly (fingers and toes), craniofacial anomalies (depressed nasal bridge, low-set ears, thin vermilion of the upper lip, round face, and abnormal tooth development), neurological and/or/neuropsychiatric manifestations (seizures, hypotonia, behavioral anomalies), and recurrent infections [80].