| Disease ID | Source | Name | Description |
| 617026 | OMIM | Pontocerebellar hypoplasia 2F (PCH2F) | A neurodevelopmental disorder characterized by progressive microcephaly, cognitive and motor delay, poor or absent speech, seizures, and spasticity. PCH2F inheritance is autosomal recessive. The disease is caused by variants affecting the gene represented in this entry. |