Search Ontology:
Human Disease

Timothy syndrome

Term ID
DOID:0060173
Synonyms
  • long QT syndrome with syndactyly
Definition
A syndrome characterized by cardiac, hand/foot, facial, and neurodevelopmental features that has_material_basis_in heterozygous mutation in the CACNA1C gene on chromosome 12p13.33. The two forms are type 1 (classic) and type 2, a rare form that has_material_basis_in mutations in a transcript variant of the CACNA1C gene. (3)
References
Ontology
Human Disease   ( DOID:0060173 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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