Term Name: | childhood onset GLUT1 deficiency syndrome 2 |
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Synonyms: | |
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. |
Ontology: | Human Disease [DOID:0090045] ( DOID:0090045 ) |