(Q3508705)
English
Timothy syndrome
An autosomal dominant disease that is characterized by cardiac, hand/foot, facial, and neurodevelopmental features. The two forms are type 1 (classic) and type 2, a rare form that has material basis in mutations in a transcript variant of CACNA1C.
- long QT syndrome 8
- LQT8
- Long QT syndrome-syndactyly syndrome
- TIMOTHY SYNDROME; TS
- TIMOTHY SYNDROME
- TS
- Long QT syndrome type 8
- Long Qt Syndrome With Syndactyly
- obsolete Timothy syndrome
Statements
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C142894
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Timothy syndrome
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Identifiers
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Sitelinks
Wikipedia(7 entries)
- arwiki متلازمة تيموثي
- bswiki Timothyjev sindrom
- enwiki Timothy syndrome
- eswiki Síndrome de Timothy
- frwiki Syndrome de Timothy
- hiwiki टीमोठी सिंड्रोम
- ptwiki Síndrome de Timothy
Wikibooks(0 entries)
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Multilingual sites(1 entry)
- commonswiki Category:Timothy syndrome