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L-2-hydroxyglutaric aciduria
Summary
- Synonym
-
- L-2-HYDROXYGLUTARIC ACIDEMIA
- Definition
- An 2-hydroxyglutaric aciduria that involves damage to cerebellum affecting movement coordination resulting in problems with balance and muscle coordination (ataxia).
- Super Class
- 2-hydroxyglutaric aciduria cerebellar disease
External Links
- Disease Ontology
- DOID:0050574
- Mondo Disease Ontology
- ORDO
- OMIM
- GARD
- MGI genotype (from TogoID)
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q9H9P8 | L-2-hydroxyglutarate dehydrogenase, mitochondrial |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0002383 | Infectious encephalitis |
| HP:0001252 | Hypotonia |
| HP:0010864 | Intellectual disability, severe |
| HP:0000708 | Atypical behavior |
| HP:0006887 | Intellectual disability, progressive |
| HP:0002071 | Abnormality of extrapyramidal motor function |
| HP:0000256 | Macrocephaly |
| HP:0004375 | Neoplasm of the nervous system |
| HP:0001285 | Spastic tetraparesis |
| HP:0007360 | Aplasia/Hypoplasia of the cerebellum |
