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Brachydactyly-nystagmus-cerebellar ataxia syndrome is characterized by brachydactyly, nystagmus and cerebellar ataxia. Intellectual deficit and strabismus are also reported in some patients.
Features include: Strabismus, Brachydactyly, Nystagmus, and Ataxia and 3 more.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Eyes | 2 | Strabismus, Nystagmus |
Brain and nerves | 2 | Ataxia, Intellectual disability |
Biomarker and diagnostic research for brachydactyly-nystagmus-cerebellar ataxia syndrome has been reported in the published literature.
Estimated prevalence: <1 in 1,000,000 (VERY_RARE).
1 clinical trial registered, 1 recruiting. Interventions under study include other interventions. Research is primarily sponsored by academic and government institutions.
203 publications have been identified in PubMed for brachydactyly-nystagmus-cerebellar ataxia syndrome. Research spans Review / Meta-Analysis (34%), Case Report / Case Series (21%), and Basic Science / Preclinical (18%).
Research Type | Count | % of Total |
|---|---|---|
Research summaries | 66 |
Data assembled from 6 of 12 sources · Last updated Sep 21, 2026, 4:54 AM UTC
Online Mendelian Inheritance in Man
European rare disease database
Genetic and Rare Diseases Info Center
Patient case studies | 40 | 21% |
Laboratory research | 34 | 18% |
Disease patterns and progression | 29 | 15% |
Other research | 10 | 5% |
Testing and diagnosis research | 10 | 5% |
Clinical study results | 5 | 3% |
Morrison DE (2026). [PMID: 41509710](https://pubmed.ncbi.nlm.nih.gov/41509710/). *Brain Commun*. [Epidemiology / Natural History]
Becker-Bense S (2026). [PMID: 42269649](https://pubmed.ncbi.nlm.nih.gov/42269649/). *Fortschr Neurol Psychiatr*. [Review / Meta-Analysis]
Pan J (2026). [PMID: 42154290](https://pubmed.ncbi.nlm.nih.gov/42154290/). *J Neurol*. [Epidemiology / Natural History]
Rayi A (2026). [PMID: 30725883](https://pubmed.ncbi.nlm.nih.gov/30725883/). *Unknown Journal*. [Other]
Vinokurov E (2026). [PMID: 42057699](https://pubmed.ncbi.nlm.nih.gov/42057699/). *Neurodegener Dis Manag*. [Basic Science / Preclinical]
Tirthani E (2026). [PMID: 33232100](https://pubmed.ncbi.nlm.nih.gov/33232100/). *Unknown Journal*. [Other]
Garg RK (2026). [PMID: 42237532](https://pubmed.ncbi.nlm.nih.gov/42237532/). *Mov Disord Clin Pract*. [Review / Meta-Analysis]
Petit E (2026). [PMID: 41150672](https://pubmed.ncbi.nlm.nih.gov/41150672/). *Brain*. [Diagnostic / Biomarker]
Thakolwiboon S (2026). [PMID: 41526153](https://pubmed.ncbi.nlm.nih.gov/41526153/). *Handb Clin Neurol*. [Review / Meta-Analysis]
Riboldi GM (2026). [PMID: 30137827](https://pubmed.ncbi.nlm.nih.gov/30137827/). *Unknown Journal*. [Other]
AI-curated news mentioning brachydactyly-nystagmus-cerebellar ataxia syndrome
Updated Apr 20, 2026
electrophysiological features and outcomes of post infectious myoclonus ataxia syndrome a case report and literature review