Features include always present findings: Broad-based gait, Generalized muscle weakness, Truncal ataxia, and Delayed ability to walk and others; and very common findings: Dysarthria and Low muscle tone (hypotonia). 20 total HPO annotations.

RNU12 function has not been fully characterized.

Spinocerebellar ataxia, autosomal recessive 33 is associated with mutations in the RNU12 gene on chromosome 22.

Genetic testing for RNU12 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for spinocerebellar ataxia, autosomal recessive 33 has been reported in the published literature.

Phenotype severity distribution: 11 always present features, 2 very common features, 1 common feature.

No clinical trials have been registered for spinocerebellar ataxia, autosomal recessive 33.

8 publications have been identified in PubMed for spinocerebellar ataxia, autosomal recessive 33. Research spans Diagnostic / Biomarker (25%), Basic Science / Preclinical (25%), and Epidemiology / Natural History (25%).

Recent Publications

• Erdmann H (2026). [PMID: 40898875](https://pubmed.ncbi.nlm.nih.gov/40898875/). *Brain : a journal of neurology*. [Epidemiology / Natural History]

• Mendez R (2026). [PMID: 41808409](https://pubmed.ncbi.nlm.nih.gov/41808409/). *HGG advances*. [Case Report / Case Series]

• Scaravilli A (2025). [PMID: 40241303](https://pubmed.ncbi.nlm.nih.gov/40241303/). *European journal of neurology*. [Basic Science / Preclinical]

• Jimoh IJ (2025). [PMID: 39978794](https://pubmed.ncbi.nlm.nih.gov/39978794/). *Clinical genetics*. [Epidemiology / Natural History]

• Hartlerode AJ (2024). [PMID: 38888340](https://pubmed.ncbi.nlm.nih.gov/38888340/). *Human molecular genetics*. [Basic Science / Preclinical]