| Disease ID | Source | Name | Description |
| 612389 | OMIM | Pontocerebellar hypoplasia 2B (PCH2B) | A disorder characterized by an abnormally small cerebellum and brainstem, and progressive microcephaly from birth combined with extrapyramidal dyskinesia. Severe chorea occurs and epilepsy is frequent. There are no signs of spinal cord anterior horn cells degeneration. The disease is caused by variants affecting the gene represented in this entry. |