Term Name: childhood onset GLUT1 deficiency syndrome 2
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)

Relationships
is a type of: autosomal dominant disease dystonia