| Metadata | |
|---|---|
| ID | DOID:0090045 |
| Name | glucose transporter type 1 deficiency syndrome 2 |
| 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. https://www.ncbi.nlm.nih.gov/pubmed/26336901, https://www.omim.org/entry/612126 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
childhood-onset GLUT1 deficiency syndrome 2 [EXACT] dystonia 18 [EXACT] DYT18 [EXACT] GLUT1 deficiency syndrome 2 [EXACT] GLUT1DS2 [EXACT] paroxysmal exercise-induced dyskinesia [BROAD] paroxysmal exertion-induced dyskinesia [BROAD] PED [BROAD] |
| Parent Relationships |
is_a dystonia |