| Disease ID | Source | Name | Description |
| 618501 | OMIM | Cerebellar atrophy with seizures and variable developmental delay (CASVDD) | An autosomal recessive neurologic disorder characterized by cerebellar ataxia, atrophy of the cerebellar vermis, severe refractory seizures with early onset, and global developmental delay compatible with epileptic encephalopathy in most patients. Disease severity is variable and normal cognitive development has also been reported. The disease is caused by variants affecting the gene represented in this entry. |