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Any autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome in which the cause of the disease is a mutation in the RUBCN gene.
Features include always present findings: Delayed speech and language development, Mild intellectual disability, Delayed ability to walk, and Dysarthria and others; and common findings: Seizure, Shrinkage of the cerebellum (cerebellar atrophy), Lower limb hyperreflexia, and Saccadic smooth pursuit interruptions and others.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Brain and nerves | 12 | Delayed speech and language development, Mild intellectual disability, Seizure |
Arms and legs | 3 | Lower limb hyperreflexia, Hyporeflexia of upper limbs, Hyporeflexia of lower limbs |
Eyes | 2 | Saccadic smooth pursuit interruptions, Nystagmus |
Muscles | 1 | Shrinkage of the cerebellum (cerebellar atrophy) |
Age of onset: childhood, infancy, adulthood.
RUBCN function has not been fully characterized.
Autosomal recessive spinocerebellar ataxia 15 is associated with mutations in the RUBCN gene on chromosome 3.
Genetic testing for RUBCN is available. Testing is considered confirmatory for diagnosis.
Phenotype severity distribution: 11 always present features, 6 common features.
Estimated prevalence: <1 in 1,000,000 (VERY_RARE).
No clinical trials have been registered for autosomal recessive spinocerebellar ataxia 15.
2 publications have been identified in PubMed for autosomal recessive spinocerebellar ataxia 15. Research spans Review / Meta-Analysis (50%) and Case Report / Case Series (50%).
Fogel BL (2025). [PMID: 40464291](https://pubmed.ncbi.nlm.nih.gov/40464291/). *Ann Neurol*. [Review / Meta-Analysis]
Magalie LP (2025). [PMID: 39520129](https://pubmed.ncbi.nlm.nih.gov/39520129/). *Am J Med Genet A*. [Case Report / Case Series]
Data assembled from 6 of 12 sources · Last updated Sep 20, 2026, 11:25 AM UTC
Online Mendelian Inheritance in Man
European rare disease database
Genetic and Rare Diseases Info Center