WebWithout prompt and appropriate treatment for cardiac concerns, the disease is usually fatal in infancy and early childhood due to arrhythmias precipitated by infections, severe … Timothy syndrome is a rare autosomal-dominant disorder characterized by physical malformations, as well as neurological and developmental defects, including heart QT-prolongation, heart arrhythmias, structural heart defects, syndactyly (webbing of fingers and toes), and autism spectrum disorders. Timothy syndrome represents one clinical manifestation of a range of disorders associated with mutations in CACNA1C, the gene encoding the calcium channel Cav1.2 …

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WebTimothy syndrome is known to result from a genetic change in the L-type calcium channel gene CACNA1C on chromosome 12. There are three identified subgroups of Timothy … WebMar 5, 2012 · Chesney isn't the first to suggest a medical diagnosis for Tiny Tim. Others have suggested that he had polio, cerebral palsy or a kidney disease called renal tubular … kiss cover stick

Pharos : Disease Details - Timothy syndrome

WebDisease Overview. Timothy syndrome is a disorder that affects the heart, digits (toes and fingers), and nervous system (brain and nerves).It is a type of long QT syndrome.Long QT … WebJan 2, 2005 · Treatment. Timothy syndrome (TS) is a rare genetic disorder that causes severe heart rhythm dysfunction, congenital heart defects, and global developmental … WebThey point out that deep learning techniques have been used on images acquired from multispectral and hyperspectral sensors to identify the disease-affected regions in a field; … lys taschen