Term Name:	Timothy syndrome
Synonyms:	long QT syndrome with syndactyly
Definition:	A syndrome characterized by cardiac, hand/foot, facial, and neurodevelopmental features that has_material_basis_in heterozygous mutation in the CACNA1C gene on chromosome 12p13.33. The two forms are type 1 (classic) and type 2, a rare form that has_material_basis_in mutations in a transcript variant of the CACNA1C gene.
Ontology:	Human Disease [DOID:0060173]   ( DOID:0060173 )