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L-2-hydroxyglutaric aciduria
rareL-2-hydroxyglutaric aciduria is a primarily neurological form of 2-hydroxyglutaric aciduria characterized by psychomotor retardation, cerebellar ataxia and variable macrocephaly or epilepsy.
- Identifiers
- MONDO:0009370 OMIM:236792Orphanet:79314
- Causal genes
- L2HGDH
- Part of
- 2-hydroxyglutaric aciduria
- Also known as
- L-2-HGA · L-2-hydroxyglutaric acidemia · L2HGA
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