# pontocerebellar hypoplasia type 8

> gene. MRI demonstrates a pontocerebellar hypoplasia with vermis and hemispheres equally affected and mild to severely reduced cerebral white matter volume with a fully formed very thin corpus callosum.

**Wikidata**: [Q18966161](https://www.wikidata.org/wiki/Q18966161)  
**Source**: https://4ort.xyz/entity/pontocerebellar-hypoplasia-type-8


## References

1. Monarch Disease Ontology release 2018-06-29
2. Disease Ontology
3. UniProt
4. CHMP1A encodes an essential regulator of BMI1-INK4A in cerebellar development
5. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000131165/MONDO_0013990)
6. [Identifiers.org](https://registry.identifiers.org/registry/doid)