Timothy syndrome (DOID:0060173)
Alliance: disease page
Synonyms: long QT syndrome with syndactyly
Alt IDs: OMIM:601005, ICD10CM:G72.3, MESH:C536962, ORDO:65283, UMLS_CUI:C1832916
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.