# juvenile neuronal ceroid lipofuscinosis

> extremely rare and fatal autosomal recessive neurodegenerative disorder in humans

**Wikidata**: [Q1753778](https://www.wikidata.org/wiki/Q1753778)  
**Wikipedia**: [English](https://en.wikipedia.org/wiki/Batten_disease)  
**Source**: https://4ort.xyz/entity/juvenile-neuronal-ceroid-lipofuscinosis


## References

1. Monarch Disease Ontology release 2018-06-29
2. Freebase Data Dumps. 2013
3. Cathepsin D deficiency is associated with a human neurodegenerative disorder
4. Variant late infantile neuronal ceroid lipofuscinosis in a subset of Turkish patients is allelic to Northern epilepsy
5. Isolation of a novel gene underlying Batten disease, CLN3. The International Batten Disease Consortium
6. Mutations in the palmitoyl protein thioesterase gene causing infantile neuronal ceroid lipofuscinosis
7. Association of Mutations in a Lysosomal Protein with Classical Late-Infantile Neuronal Ceroid Lipofuscinosis
8. YSO-Wikidata mapping project
9. [OpenAlex](https://docs.openalex.org/download-snapshot/snapshot-data-format)