childhood-onset GLUT1 deficiency syndrome 2

Term ID

DOID:0090045

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. (2)

References

• ICD10CM:G24.8
• OMIM:612126
• ORDO:98811

Ontology

Human Disease   ( DOID:0090045 )