| Disease ID | Source | Name | Description |
| 610204 | OMIM | Pontocerebellar hypoplasia 5 (PCH5) | 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. The disease is caused by variants affecting the gene represented in this entry. |
| 225753 | OMIM | Pontocerebellar hypoplasia 4 (PCH4) | A disorder characterized by an abnormally small cerebellum and brainstem, severe neonatal encephalopathy, microcephaly, myoclonus and muscular hypertonia. There is a severe inferior olivary and pontine neuronal loss and a diffuse white matter gliosis. The disease is caused by variants affecting the gene represented in this entry. |
| 277470 | OMIM | Pontocerebellar hypoplasia 2A (PCH2A) | A disorder characterized by an abnormally small cerebellum and brainstem, and progressive microcephaly from birth combined with extrapyramidal dyskinesia. Severe chorea occurs and epilepsy is frequent. There are no signs of spinal cord anterior horn cells degeneration. The disease is caused by variants affecting the gene represented in this entry. |