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| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H01280 | L-2-hydroxyglutaric aciduria | L-2-hydroxyglutaric aciduria (L2HGA) is a rare autosomal recessive neurometabolic disorder characterized by progressive ataxia, mental deficiency with subcortical leukoencephalopathy, and cerebellar atrophy | Inherited metabolic disorder | L2HGDH [HSA:79944] [KO:K00109] |
| [ KEGG | DISEASE | DRUG | MEDICUS ] |