DO_rare_slim has material basis in has phenotype autosomal dominant disease Timothy syndrome ORDO:65283 GARD:9294 NCI:C142894 2011-11-08T12:52:33Z 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. SNOMEDCT_US_2025_09_01:1230096008 MIM:601005 MESH:C536962 disease_ontology UMLS_CUI:C1832916 UMLS_CUI:C1832916 DOID:0060173 long QT syndrome with syndactyly syndrome autosomal dominant inheritance Neurodevelopmental abnormality