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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/601005
http://purl.bioontology.org/ontology/OMIM/601005
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|---|---|
| Preferred Name | TIMOTHY SYNDROME |
| Synonyms |
TS
LONG QT SYNDROME WITH SYNDACTYLY
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| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
TS
LONG QT SYNDROME WITH SYNDACTYLY
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|---|---|
| prefLabel | TIMOTHY SYNDROME
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| Gene Symbol |
CCHL1A1
TS
CACNA1C
CACNL1A1
NEDHLSS
LQT8
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| Scope Statement | Syndactyly most commonly seen in patients with the G406 R mutation in exons 8 or 8A (114205.0001) [MISCELLANEOUS]
Some patients with milder phenotypes exhibit somatic mosaicism [MISCELLANEOUS]
Marked clinical variability [MISCELLANEOUS]
Risk of sudden death [MISCELLANEOUS]
Caused by mutation in the calcium channel, voltage-dependent, L type, alpha 1C subunit gene (CACNA1C, 114205.0001) [MOLECULAR BASIS]
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| type | |
| Has manifestation |
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| tui | T047
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| Gene Locus | 12p13.3
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| MIMTYPEMEANING | Phenotype description, molecular basis known.
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| notation | 601005
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| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C1832916
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| OMIM Entry Type | 3
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| OMIM MimType Value | pound
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| Delete | Subject | Author | Type | Created |
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| No notes to display |