| Disease ID | Source | Name | Description |
| 611523 | OMIM | Pontocerebellar hypoplasia 6 (PCH6) | A disorder characterized by an abnormally small cerebellum and brainstem, infantile encephalopathy, generalized hypotonia, lethargy and poor feeding. Recurrent apnea, intractable seizures occur early in the course of this condition. The disease is caused by variants affecting the gene represented in this entry. |