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Timothy syndrome
Summary
- 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.
- Super Class
- autosomal dominant disease syndrome
External Links
- Disease Ontology
- DOID:0060173
- Mondo Disease Ontology
- MeSH
- UMLS
- ORDO
- OMIM
- GARD
- MGI genotype (from TogoID)
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| O00767 | Stearoyl-CoA desaturase | |
| O60502 | Protein O-GlcNAcase | |
| P54646 | 5'-AMP-activated protein kinase catalytic subunit alpha-2 |
