# optic atrophy-intellectual disability syndrome

> human disease

**Wikidata**: [Q55784781](https://www.wikidata.org/wiki/Q55784781)  
**Wikipedia**: [English](https://en.wikipedia.org/wiki/Bosch–Boonstra–Schaaf_optic_atrophy_syndrome)  
**Source**: https://4ort.xyz/entity/optic-atrophy-intellectual-disability-syndrome


## References

1. Monarch Disease Ontology release 2018-06-29
2. NR2F1 mutations cause optic atrophy with intellectual disability.
3. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000175745/MONDO_0014320)
4. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000175745/Orphanet_401777)