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| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H02431 | Cerebellar hypoplasia, epilepsy, and global developmental delay | ... global developmental delay, intellectual disability, language delay, cerebellar atrophy, and seizures. It has been reported that loss-of-function mutations in the OXR1 gene are associated with this disease. | Congenital malformation | OXR1 [HSA:55074] [KO:K25437] |
| [ KEGG | DISEASE | DRUG | MEDICUS ] |