|OBO ID: DOID:0060173|
|Term Name:||Timothy syndrome||Search Ontology:|
|Definition:||A syndrome 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 on chromosome 12p13.33. (3)|
|Ontology:||Human Disease (DOID:0060173)|
|is a type of:||
OTHER Timothy syndrome PAGES
ZEBRAFISH MODELS No data available
PHENOTYPE No data available
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