| Dataset | ClinVar Gene-Phenotype Associations |
| Category | disease or phenotype associations |
| Type | phenotype |
| Description | An 2-hydroxyglutaric aciduria that involves damage to cerebellum affecting movement coordination resulting in problems with balance and muscle coordination (ataxia). (Human Disease Ontology, DOID_0050574) |
| External Link | http://www.omim.org/entry/236792 |
| Similar Terms | |
| Downloads & Tools |
1 genes associated with the L-2-hydroxyglutaric aciduria phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
| Symbol | Name |
|---|---|
| L2HGDH | L-2-hydroxyglutarate dehydrogenase |
