Overview

Timothy's syndrome


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A disorder characterized by multiorgan dysfunction, including lethal arrhythmias (long QT-8), webbing of fingers and toes, congenital heart disease, immune deficiency, intermittent hypoglyaemia, cognitive abnormalities, and autism. Caused by a mutation in the gene for the α-1C subunit of the voltage-dependent L-type calcium channel from cardiac muscle (CACNL1A1).

Subjects: Medicine and Health.


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