Timothy syndrome

(redirected from Timothy's syndrome)

Timothy syndrome

rare congenital disorder of calcium channel (MIM #601005) characterized by multiorgan abnormalities, long QT intervals, digital webbing, immune deficiency, cognitive deficiencies, autism, and death usually before age 3.

Timothy syndrome

rare congenital disorder of calcium channel (MIM #601005) characterized by multiorgan abnormalities, long QT intervals, digital webbing, immune deficiency, cognitive deficiencies, autism, and death usually before age 3.

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.
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Children affected by Timothy's syndrome often show symptoms of autism spectrum disorders along with a constellation of physical problems.