Timothy syndrome

Term ID

DOID:0060173

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. (3)

References

• GARD:9294
• MESH:C536962
• MIM:601005
• NCI:C142894
• ORDO:65283
• SNOMEDCT_US_2025_09_01:1230096008
• UMLS_CUI:C1832916

Ontology

Human Disease   ( DOID:0060173 )