Timothy syndrome
autosomal dominant disease that is characterized by cardiac, hand/foot, facial, and neurodevelopmental features; the two forms are type 1 (classic) and type 2, a rare form that has material basis in mutations in a transcript variant of CACNA1C
en-GB/ˈtɪməθɪ ˈsɪndɹəʊm/
en-US/ˈtɪməθi ˌsɪndɹəm/