# congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome

> human disease

**Wikidata**: [Q55784327](https://www.wikidata.org/wiki/Q55784327)  
**Source**: https://4ort.xyz/entity/congenital-ichthyosis-intellectual-disability-spastic-quadriplegia-syndrome


## References

1. Monarch Disease Ontology release 2018-06-29
2. Recessive mutations in ELOVL4 cause ichthyosis, intellectual disability, and spastic quadriplegia
3. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000118402/Orphanet_352333)