# mental retardation and microcephaly with pontine and cerebellar hypoplasia

> rare X-linked dominant genetic disorder

**Wikidata**: [Q16938818](https://www.wikidata.org/wiki/Q16938818)  
**Wikipedia**: [English](https://en.wikipedia.org/wiki/Intellectual_developmental_disorder_and_microcephaly_with_pontine_and_cerebellar_hypoplasia)  
**Source**: https://4ort.xyz/entity/mental-retardation-and-microcephaly-with-pontine-and-cerebellar-hypoplasia


## References

1. Monarch Disease Ontology release 2018-06-29
2. Disease Ontology
3. UniProt
4. Mutations of CASK cause an X-linked brain malformation phenotype with microcephaly and hypoplasia of the brainstem and cerebellum
5. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000147044/MONDO_0010417)
6. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000147044/Orphanet_163937)
7. [Identifiers.org](https://registry.identifiers.org/registry/doid)