Conditions / Genetic
D-2-hydroxyglutaric aciduria 2
info · Genetic
A D-2-hydroxyglutaric aciduria that has_material_basis_in heterozygous mutation in IDH2 on 15q26.1.
Signs and symptoms
- D-2-hydroxyglutaric acidemia
- D-2-hydroxyglutaric aciduria
- Seizure
- Global developmental delay
- Hypotonia
- Cardiomyopathy
Also known as: D2HGA2