Version: 8.0.0
Date: Tue Jan 28 2025
Timothy syndrome
DOID:0060173
SummaryAssociated GenesAssociated AllelesAssociated Models
Disease

Timothy syndrome

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.
Synonyms
  • long QT syndrome with syndactyly
Cross References
Parent Terms
Child Terms
None
Sources of Associations

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      Associated Models

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