# hypomyelinating leukodystrophy 6

> Human disease

**Wikidata**: [Q28065603](https://www.wikidata.org/wiki/Q28065603)  
**Source**: https://4ort.xyz/entity/hypomyelinating-leukodystrophy-6


## References

1. Disease Ontology
2. A de novo mutation in the β-tubulin gene TUBB4A results in the leukoencephalopathy hypomyelination with atrophy of the basal ganglia and cerebellum
3. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000104833/Orphanet_139441)
4. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000120686/Orphanet_139441)
5. [Identifiers.org](https://registry.identifiers.org/registry/doid)
6. UMLS 2023