Conditions / Syndrome
Timothy syndrome
info · Syndrome
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_ba
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.
Signs and symptoms
- Cutaneous syndactyly
- Microdontia
- Prolonged QT interval
- Bradycardia
- Atrioventricular block
- Ventricular tachycardia
- Autism
- Patent ductus arteriosus
- Thin upper lip vermilion
- Round face