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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
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001250 | Seizure |
| HP:0007360 | Aplasia/Hypoplasia of the cerebellum |
| HP:0007258 | Severe demyelination of the white matter |
| HP:0007371 | Corpus callosum atrophy |
| HP:0002376 | Developmental regression |
| HP:0000486 | Strabismus |
| HP:0002283 | Global brain atrophy |
| HP:0001249 | Intellectual disability |
| HP:0003593 | Infantile onset |
| HP:0000648 | Optic atrophy |
