| Disease ID | Source | Name | Description |
| 614756 | OMIM | Cerebellar ataxia, non-progressive, with mental retardation (CANPMR) | A neurodevelopmental disorder characterized by mildly delayed psychomotor development, early onset of cerebellar ataxia, and intellectual disability later in childhood and adult life. Other features may include neonatal hypotonia, dysarthria, and dysmetria. Brain imaging in some patients shows cerebellar atrophy. Dysmorphic facial features are variable. The disease is caused by variants affecting the gene represented in this entry. |