# hypomyelinating leukodystrophy 5

> Hypomyelination-congenital cataract is characterized by the onset of cataract either at birth or in the first two months of life, delayed psychomotor development by the end of the first year of life and moderate intellectual deficit

**Wikidata**: [Q28065598](https://www.wikidata.org/wiki/Q28065598)  
**Wikipedia**: [English](https://en.wikipedia.org/wiki/Hypomyelination-congenital_cataract_syndrome)  
**Source**: https://4ort.xyz/entity/hypomyelinating-leukodystrophy-5


## References

1. Disease Ontology
2. Monarch Disease Ontology release 2018-06-29
3. UniProt
4. Deficiency of hyccin, a newly identified membrane protein, causes hypomyelination and congenital cataract
5. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000122591/Orphanet_85163)
6. [Identifiers.org](https://registry.identifiers.org/registry/doid)