Cerebellar ataxia, epilepsy, mental retardation
| Disease Term | Disease ID | Gene Symbol | References |
|---|---|---|---|
| Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency | 284282 | WWOX | |
| Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency | 404499 | RUBCN | |
| Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency | 404493 | TDP2 |