# pontocerebellar hypoplasia type 1B

> human disease

**Wikidata**: [Q18966146](https://www.wikidata.org/wiki/Q18966146)  
**Source**: https://4ort.xyz/entity/pontocerebellar-hypoplasia-type-1b


## References

1. Disease Ontology
2. Monarch Disease Ontology release 2018-06-29
3. UniProt
4. Mutations in the RNA exosome component gene EXOSC3 cause pontocerebellar hypoplasia and spinal motor neuron degeneration
5. [Identifiers.org](https://registry.identifiers.org/registry/doid)