| Disease ID | Source | Name | Description |
| 608027 | OMIM | Pontocerebellar hypoplasia 3 (PCH3) | A form of pontocerebellar hypoplasia, a disorder characterized by structural defects of the pons and cerebellum. Brain MRI shows an abnormally small cerebellum and brainstem, decreased cerebral white matter, and a thin corpus callosum. PCH3 features include seizures, short stature, optic atrophy, progressive microcephaly, severe developmental delay. The disease is caused by variants affecting the gene represented in this entry. |