autosomal dominant disease Timothy syndrome DOID:0110649 ORDO:65283 2011-11-08T12:52:33Z OMIM:601005 lschriml ICD10CM:G72.3 A syndrome 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. MESH:C536962 disease_ontology ORDO:768 DOID:0060173 syndrome