Human genes for Timothy syndrome
Timothy syndrome [DOID:0060173]
An 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 on chromosome 12p13.33.
Synonyms: Timothy syndrome, DOID:0060173, Timothy disease, Timothy disorder, Timothy syndromes