# non-syndromic X-linked intellectual disability

> non-syndromic intellectual disability characterized by a X-linked inheritance pattern

**Wikidata**: [Q18965508](https://www.wikidata.org/wiki/Q18965508)  
**Source**: https://4ort.xyz/entity/non-syndromic-x-linked-intellectual-disability


## References

1. Disease Ontology
2. Loss of ZDHHC15 expression in a woman with a balanced translocation t(X;15)(q13.3;cen) and severe mental retardation
3. Involvement of the kinesin family members KIF4A and KIF5C in intellectual disability and synaptic function.
4. Loss of function of KIAA2022 causes mild to severe intellectual disability with an autism spectrum disorder and impairs neurite outgrowth
5. Mutations in GDI1 are responsible for X-linked non-specific mental retardation
6. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000203879/Orphanet_777)
7. Mutations in the guanine nucleotide exchange factor gene IQSEC2 cause nonsyndromic intellectual disability
8. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000124313/Orphanet_777)
9. Mutations in the DLG3 gene cause nonsyndromic X-linked mental retardation
10. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000082458/Orphanet_777)
11. A new member of the IL-1 receptor family highly expressed in hippocampus and involved in X-linked mental retardation
12. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000169306/Orphanet_777)
13. PAK3 mutation in nonsyndromic X-linked mental retardation
14. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000077264/Orphanet_777)
15. A novel 2 bp deletion in the TM4SF2 gene is associated with MRX58
16. Mutations in the BRWD3 gene cause X-linked mental retardation associated with macrocephaly
17. A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation
18. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000147180/Orphanet_777)
19. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000102003/Orphanet_777)
20. Mutations in the FTSJ1 gene coding for a novel S-adenosylmethionine-binding protein cause nonsyndromic X-linked mental retardation
21. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000068438/Orphanet_777)
22. Mutations in USP9X are associated with X-linked intellectual disability and disrupt neuronal cell migration and growth
23. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000124486/Orphanet_777)
24. Mutations in the small GTPase gene RAB39B are responsible for X-linked mental retardation associated with autism, epilepsy, and macrocephaly
25. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000155961/Orphanet_777)
26. FACL4, encoding fatty acid-CoA ligase 4, is mutated in nonspecific X-linked mental retardation
27. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000068366/Orphanet_777)
28. Mutations in ARHGEF6, encoding a guanine nucleotide exchange factor for Rho GTPases, in patients with X-linked mental retardation
29. A missense mutation in RPS6KA3 (RSK2) responsible for non-specific mental retardation
30. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000177189/Orphanet_777)
31. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000004848/Orphanet_777)
32. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000073464/Orphanet_777)
33. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000125676/Orphanet_777)
34. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000215301/Orphanet_777)
35. [Identifiers.org](https://registry.identifiers.org/registry/doid)
36. Monarch Disease Ontology release 2018-06-29
37. Genetic and Rare Diseases Information Center