Category:Timothy syndrome

**Timothy syndrome**
	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.
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Instance of	rare disease; class of disease;
Subclass of	autosomal dominant disease; long QT syndrome; syndrome;
Named after	Katherine Timothy;
Authority file
	Q3508705;
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