childhood onset GLUT1 deficiency syndrome 2

Findings

No curated finding names childhood onset GLUT1 deficiency syndrome 2 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.

Definition

Inheritance

Autosomal dominant inheritance

Onset and course

Infantile onset · Juvenile onset

HPO, annotations 2026-09-02

What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.

Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.

Where it sits

A kind of

• disorder of carbohydrate transmembrane transport and absorption
• GLUT1 deficiency syndrome
• paroxysmal dyskinesia

Resolves to: childhood onset GLUT1 deficiency syndrome 2

Also called

childhood onset GLUT1 deficiency syndrome type 2dystonia 18DYT18GLUT1 deficiency syndrome 2, childhood onsetGLUT1 deficiency syndrome type 2paroxysmal exercise-induced dystoniaPEDPxMD-SLC2A1