| Metadata | |
|---|---|
| ID | DOID:0090045 |
| Name | childhood onset GLUT1 deficiency syndrome 2 |
| 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. https://www.ncbi.nlm.nih.gov/pubmed/26336901, https://www.omim.org/entry/612126 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Parent Relationships |
is_a dystonia |