| Disease ID | Source | Name | Description |
| 617695 | OMIM | Pontocerebellar hypoplasia 11 (PCH11) | A non-degenerative form of pontocerebellar hypoplasia, a disorder characterized by structural defects of the pons and cerebellum, evident upon brain imaging. PCH11 features include severely delayed psychomotor development with intellectual disability and poor speech, microcephaly, dysmorphic features, and pontocerebellar hypoplasia. PCH11 inheritance is autosomal recessive. The disease is caused by variants affecting the gene represented in this entry. |