# infantile cerebellar-retinal degeneration

> neurodegenerative disease that is characterized by onset between ages 2 and 6 months of truncal hypotonia, athetosis, seizures, and ophthalmologic abnormalities, particularly optic atrophy and retinal degeneration

**Wikidata**: [Q18553533](https://www.wikidata.org/wiki/Q18553533)  
**Wikipedia**: [English](https://en.wikipedia.org/wiki/Infantile_cerebellar_retinal_degeneration)  
**Source**: https://4ort.xyz/entity/infantile-cerebellar-retinal-degeneration


## References

1. Disease Ontology
2. Monarch Disease Ontology release 2018-06-29
3. Purkinje cell degeneration, a new neurological mutation in the mouse
4. The AGTPBP1 gene in neurobiology.
5. Loss of tubulin deglutamylase CCP1 causes infantile-onset neurodegeneration
6. UniProt
7. Infantile cerebellar-retinal degeneration associated with a mutation in mitochondrial aconitase, ACO2.
8. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000100412/MONDO_0013802)
9. [Identifiers.org](https://registry.identifiers.org/registry/doid)