# hypomyelinating leukodystrophy 9

> hypomyelinating leukodystrophy characterized by delayed psychomotor development, spasticity, and nystagmus starting in the first year of life that has material basis in compound heterozygous mutation in the RARS gene on chromosome 5q34

**Wikidata**: [Q28065596](https://www.wikidata.org/wiki/Q28065596)  
**Source**: https://4ort.xyz/entity/hypomyelinating-leukodystrophy-9


## References

1. Disease Ontology
2. Monarch Disease Ontology release 2018-06-29
3. UniProt
4. Mutations in RARS cause hypomyelination
5. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000113643/MONDO_0014506)
6. [Identifiers.org](https://registry.identifiers.org/registry/doid)