# X-linked intellectual disability-psychosis-macroorchidism syndrome

> syndromic X-linked intellectual disability characterized by moderate intellectual deficit, manic-depressive psychosis, pyramidal signs and macroorchidism that has material basis in mutation in the MECP2 gene on chromosome Xq28

**Wikidata**: [Q28065631](https://www.wikidata.org/wiki/Q28065631)  
**Source**: https://4ort.xyz/entity/x-linked-intellectual-disability-psychosis-macroorchidism-syndrome


## References

1. Disease Ontology
2. A mutation in the rett syndrome gene, MECP2, causes X-linked mental retardation and progressive spasticity in males
3. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000169057/Orphanet_3077)
4. [Identifiers.org](https://registry.identifiers.org/registry/doid)
5. UMLS 2023