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| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H00871 | Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation | ... and dorsal column dysfunction, often leading to wheelchair dependency before age 30 years. LBSL is caused by mutations in the gene DARS2, which codes for mitochondrial aspartyl-tRNA synthetase (mtAspRS). | Inherited metabolic disorder, Mitochondrial disease | DARS2 [HSA:55157] [KO:K01876] |
| [ KEGG | DISEASE | DRUG | MEDICUS ] |