| Disease ID | Source | Name | Description |
| 614969 | OMIM | Pontocerebellar hypoplasia 7 (PCH7) | A form of pontocerebellar hypoplasia, a group of related disorders characterized by underdevelopment of the pons and the cerebellum. Pontocerebellar hypoplasia also causes impaired growth of other parts of the brain, leading to an unusually small head size. PCH7 patients manifest delayed psychomotor development, hypotonia, breathing abnormalities, and gonadal abnormalities. The disease is caused by variants affecting the gene represented in this entry. |