L-2-hydroxyglutaric aciduria Gene Set

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
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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