# pontocerebellar hypoplasia type 2C

> human disease

**Wikidata**: [Q18966150](https://www.wikidata.org/wiki/Q18966150)  
**Source**: https://4ort.xyz/entity/pontocerebellar-hypoplasia-type-2c


## References

1. Disease Ontology
2. Monarch Disease Ontology release 2018-06-29
3. UniProt
4. tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia
5. [Identifiers.org](https://registry.identifiers.org/registry/doid)