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glucose transporter type 1 deficiency syndrome 2 (DOID:0090045)
Alliance: disease page
Synonyms: childhood-onset GLUT1 deficiency syndrome 2; dystonia 18; DYT18; GLUT1 deficiency syndrome 2; GLUT1DS2; paroxysmal exercise-induced dyskinesia; paroxysmal exertion-induced dyskinesia; PED
Alt IDs: OMIM:612126, ICD10CM:G24.8, MESH:C564288, ORDO:98811, UMLS_CUI:C1842534
Definition: A dystonia characterized by paroxysmal exercise-induced dyskinesia involving transient abnormal involuntary movements in the exercised limbs that has_material_basis_in heterozygous mutation in the SLC2A1 gene on chromosome 1p34.

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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12/10/2024
MGI 6.24 		The Jackson Laboratory