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childhood onset GLUT1 deficiency syndrome 2
Summary
- Definition
- A dystonia that is characterized by paroxysmal exercise-induced dyskinesia involving transient abnormal involuntary movements in the exercised limbs, and that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the solute carrier family 2 member 1 (SLC2A1) gene on chromosome 1p34.
- Super Class
- autosomal dominant disease dystonia
External Links
- Disease Ontology
- DOID:0090045
- Mondo Disease Ontology
- ORDO
- OMIM
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P30084 | Enoyl-CoA hydratase, mitochondrial |
