# X-linked mental retardation with cerebellar hypoplasia and distinctive facial appearance

> X-linked intellectual deficit-cerebellar hypoplasia, also known as OPHN1 syndrome, is a rare syndromic form of cerebellar dysgenesis characterized by moderate to severe intellectual deficit and cerebellar abnormalities

**Wikidata**: [Q55373611](https://www.wikidata.org/wiki/Q55373611)  
**Source**: https://4ort.xyz/entity/x-linked-mental-retardation-with-cerebellar-hypoplasia-and-distinctive-facial-appearance


## References

1. Monarch Disease Ontology release 2018-06-29
2. Disease Ontology
3. UniProt
4. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000079482/MONDO_0010337)
5. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000079482/Orphanet_137831)
6. [Identifiers.org](https://registry.identifiers.org/registry/doid)
7. UMLS 2023