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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

ICD10CM:G24.8

OMIM:612126

ORDO:98811

Parent Relationships

is_a dystonia

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