# pontocerebellar hypoplasia type 2A

> human disease

**Wikidata**: [Q2195280](https://www.wikidata.org/wiki/Q2195280)  
**Source**: https://4ort.xyz/entity/pontocerebellar-hypoplasia-type-2a


## 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)