OBO ID: DOID:0090045 |
Term Name: | childhood onset GLUT1 deficiency syndrome 2 | Search Ontology: | |
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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. (2) | ||
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Ontology: | Human Disease ( DOID:0090045 ) |
OTHER childhood onset GLUT1 deficiency syndrome 2 PAGES
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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