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Timothy syndrome

A disorder (OMIM:601005) characterised by multiorgan dysfunction including lethal cardiac arrhythmias, webbing of fingers and toes, congenital heart disease, immune deficiency, intermittent hypoglycaemia, cognitive abnormalities and autism.

Molecular pathology
Defects of CACNA1C on chromosome 12p13.3, which encodes the alpha-1C subunit of a voltage-dependent N-type calcium channel, cause Timothy syndrome.


test solution; triple strength.