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Estimated prevalence: <1 in 1,000,000 (VERY_RARE).
No clinical trials have been registered for autosomal recessive ataxia due to PEX2 deficiency.
6 publications have been identified in PubMed for autosomal recessive ataxia due to PEX2 deficiency. Research spans Review / Meta-Analysis (83%) and Basic Science / Preclinical (17%).
Fogel BL (2025). [PMID: 40464291](https://pubmed.ncbi.nlm.nih.gov/40464291/). *Ann Neurol*. [Review / Meta-Analysis]
Amin S (2025). [PMID: 40552310](https://pubmed.ncbi.nlm.nih.gov/40552310/). *Front Cell Dev Biol*. [Review / Meta-Analysis]
Janáky M (2025). [PMID: 39846623](https://pubmed.ncbi.nlm.nih.gov/39846623/). *Vision (Basel)*. [Review / Meta-Analysis]
Gomez VA (2025). [PMID: 40621817](https://pubmed.ncbi.nlm.nih.gov/40621817/). *Dis Model Mech*. [Basic Science / Preclinical]
Lazea C (2024). [PMID: 38791606](https://pubmed.ncbi.nlm.nih.gov/38791606/). *Int J Mol Sci*. [Review / Meta-Analysis]
Bajdzienko J (2024). [PMID: 38752931](https://pubmed.ncbi.nlm.nih.gov/38752931/). *J Cell Sci*. [Review / Meta-Analysis]
Data assembled from 3 of 12 sources · Last updated Sep 21, 2026, 8:21 PM UTC
European rare disease database