# congenital fibrosis of the extraocular muscles

> ocular motility disease that is characterized by the inability to move the eyes in certain directions, droopy eyelids and eyes that are fixed in an abnormal position

**Wikidata**: [Q4990874](https://www.wikidata.org/wiki/Q4990874)  
**Wikipedia**: [English](https://en.wikipedia.org/wiki/Congenital_fibrosis_of_the_extraocular_muscles)  
**Source**: https://4ort.xyz/entity/congenital-fibrosis-of-the-extraocular-muscles


## References

1. Disease Ontology
2. Monarch Disease Ontology release 2018-06-29
3. UniProt
4. Human TUBB3 mutations perturb microtubule dynamics, kinesin interactions, and axon guidance
5. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000258947/EFO_1001985)
6. Recessive mutations in COL25A1 are a cause of congenital cranial dysinnervation disorder
7. Identification of KIF21A mutations as a rare cause of congenital fibrosis of the extraocular muscles type 3 (CFEOM3).
8. Heterozygous mutations of the kinesin KIF21A in congenital fibrosis of the extraocular muscles type 1 (CFEOM1).
9. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000139116/EFO_1001985)
10. Homozygous mutations in ARIX(PHOX2A) result in congenital fibrosis of the extraocular muscles type 2
11. [Identifiers.org](https://registry.identifiers.org/registry/doid)