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Any autosomal recessive cerebellar ataxia in which the cause of the disease is a mutation in the SNX14 gene.
Features include always present findings: Coarse facial features, Thick vermilion border, Intellectual disability, and Delayed gross motor development and others; and very common findings: Low muscle tone (hypotonia), Ataxia, Short palpebral fissure, and Delayed ability to sit and others. 49 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Brain and nerves | 15 | Inability to walk, Seizure, Ataxia |
Muscles | 4 | Low muscle tone (hypotonia), Delayed gross motor development, Cerebral cortical atrophy |
Head and neck | 4 | Broad face, Relative macrocephaly, Coarse facial features |
Ears | 2 | Hearing loss (hearing impairment), Inner ear hearing loss (sensorineural hearing impairment) |
Bones and joints | 2 | Kyphoscoliosis, Sideways curvature of the spine (scoliosis) |
Digestive system | 2 | Enlarged liver (hepatomegaly), Enlarged spleen (splenomegaly) |
Eyes | 1 | Nystagmus |
Blood and immune system | 1 | Enlarged spleen (splenomegaly) |
SNX14 function has not been fully characterized.
Autosomal recessive spinocerebellar ataxia 20 is caused by mutations in the SNX14 gene on chromosome 6.
Genetic testing for SNX14 is available. Testing is considered confirmatory for diagnosis.
Phenotype severity distribution: 8 always present features, 9 very common features, 9 common features.
Estimated prevalence: <1 in 1,000,000 (VERY_RARE).
No clinical trials have been registered for autosomal recessive spinocerebellar ataxia 20.
2 publications have been identified in PubMed for autosomal recessive spinocerebellar ataxia 20. Research spans Review / Meta-Analysis (50%) and Case Report / Case Series (50%).
Al Shamsi B (2026). [PMID: 41294032](https://pubmed.ncbi.nlm.nih.gov/41294032/). *Am J Med Genet A*. [Review / Meta-Analysis]
Misceo D (2026). [PMID: 42074495](https://pubmed.ncbi.nlm.nih.gov/42074495/). *Genes (Basel)*. [Case Report / Case Series]
Data assembled from 7 of 12 sources · Last updated Sep 20, 2026, 12:11 AM UTC
Online Mendelian Inheritance in Man
European rare disease database
Genetic and Rare Diseases Info Center