MeSH Browser

MeSH Supplementary: Timothy syndrome
Unique ID: C536962
RDF Unique Identifier: http://id.nlm.nih.gov/mesh/C536962
Entry Term(s): Long QT syndrome with syndactyly; Long Qt Syndrome 8
Registry Number: 0
Heading Mapped to: *Autistic Disorder; *Long QT Syndrome; *Syndactyly
Frequency: 91
Note: A rare congenital disorder that results from de novo autosomal dominant mutations in the CACNA1C gene. It affects multiple organs and is characterized by long QT syndrome leading to lethal CARDIAC ARRHYTHMIAS. Other findings include syndactyly, distinctive FACIES, structural heart defects, immune deficiency, intermittent HYPOGLYCEMIA, cognitive deficits, and AUTISM. OMIM: 601005
Date of Entry: 2010/08/25
Revision Date: 2015/08/18

Timothy syndrome MeSH Supplementary Concept Data 2024