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| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H02562 | Yoon-Bellen neurodevelopmental syndrome | ... disease featuring epilepsy, hearing loss, visual impairment, and ataxia. YOBELN is caused by mutations in OGDHL that encodes 2-oxoglutarate dehydrogenase-like protein. OGDHL is a rate-limiting enzyme in the ... | Inherited metabolic disorder, Mitochondrial disease | OGDHL [HSA:55753] [KO:K00164] |
| [ KEGG | DISEASE | DRUG | MEDICUS ] |