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| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H02510 | Jaberi-Elahi syndrome | ... recessive neurodevelopmental disorder characterized by dystonia, ataxia, cognitive dysfunction, motor neuropathy, and retinal abnormalities. It has been reported that mutations in GTPBP2 cause this syndrome. | Nervous system disease | GTPBP2 [HSA:54676] [KO:K24888] |
| [ KEGG | DISEASE | DRUG | MEDICUS ] |