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Timothy syndrome MeSH Supplementary Concept Data 2022


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
82
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 Preferred
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