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Biomarker and diagnostic research for optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome has been reported in the published literature.
Estimated prevalence: <1 in 1,000,000 (VERY_RARE).
No clinical trials have been registered for optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome.
170 publications have been identified in PubMed for optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome. Kisho has analyzed 20 by research type. Research spans Basic Science / Preclinical (30%), Review / Meta-Analysis (25%), and Case Report / Case Series (25%).
Research Type | Count | % of Total |
|---|---|---|
Laboratory research | 6 |
Data assembled from 3 of 12 sources · Last updated Sep 19, 2026, 3:29 PM UTC
European rare disease database
Genetic and Rare Diseases Info Center
Research summaries | 5 | 25% |
Patient case studies | 5 | 25% |
Testing and diagnosis research | 2 | 10% |
Other research | 1 | 5% |
Disease patterns and progression | 1 | 5% |
Tafakhori A (2026). [PMID: 41731431](https://pubmed.ncbi.nlm.nih.gov/41731431/). *BMC neurology*. [Case Report / Case Series]
Dash A (2025). [PMID: 39884309](https://pubmed.ncbi.nlm.nih.gov/39884309/). *Journal of movement disorders*. [Case Report / Case Series]
Lessel I (2025). [PMID: 39798569](https://pubmed.ncbi.nlm.nih.gov/39798569/). *American journal of human genetics*. [Basic Science / Preclinical]
Valentin I (2025). [PMID: 39972940](https://pubmed.ncbi.nlm.nih.gov/39972940/). *Clinical genetics*. [Diagnostic / Biomarker]
Ay A (2025). [PMID: 40125923](https://pubmed.ncbi.nlm.nih.gov/40125923/). *Ophthalmic Genet*. [Case Report / Case Series]
Falabella M (2025). [PMID: 39279645](https://pubmed.ncbi.nlm.nih.gov/39279645/). *Brain*. [Basic Science / Preclinical]
Carli S (2025). [PMID: 40112238](https://pubmed.ncbi.nlm.nih.gov/40112238/). *Neurology*. [Basic Science / Preclinical]
Maass JG (2025). [PMID: 40855817](https://pubmed.ncbi.nlm.nih.gov/40855817/). *Dis Model Mech*. [Basic Science / Preclinical]
Hamanaka K (2025). [PMID: 40858643](https://pubmed.ncbi.nlm.nih.gov/40858643/). *NPJ Genom Med*. [Diagnostic / Biomarker]
Kalogeropoulos D (2025). [PMID: 41105983](https://pubmed.ncbi.nlm.nih.gov/41105983/). *Ocul Immunol Inflamm*. [Review / Meta-Analysis]