DISEASES

Disease-gene associations mined from literature

Human genes for Timothy syndrome

Timothy syndrome [DOID:0060173]

An autosomal dominant disease 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.

Synonyms:  Timothy syndrome,  DOID:0060173,  Timothy disease,  Timothy disorder,  Timothy syndromes