OBO ID: DOID:0060173
Term Name: Timothy syndrome Search Ontology:
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 Timothy syndrome PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
CACNA1C Timothy syndrome 601005
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS (2)
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