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infantile-onset autosomal recessive nonprogressive cerebellar ataxia (SCAR6) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

infantile-onset autosomal recessive nonprogressive cerebellar ataxia

MONDO:0011950

Also known as:SCAR6autosomal recessive spinocerebellar ataxia type 6Norwegian infantile onset ataxia

Overview

GeneticsAutosomal recessive

ResearchLimited published research (2 articles)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include: Clumsiness, Delayed speech and language development, Dysmetria, and Short stature and 10 more.

Organ System	Phenotype Count	Example Features
Brain and nerves	7	Clumsiness, Delayed speech and language development, Gait ataxia

Prognosis

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for infantile-onset autosomal recessive nonprogressive cerebellar ataxia.

2 publications have been identified in PubMed for infantile-onset autosomal recessive nonprogressive cerebellar ataxia. Research spans Case Report / Case Series (50%) and Basic Science / Preclinical (50%).

Recent Publications

Denha SA (2025). [PMID: 40484375](https://pubmed.ncbi.nlm.nih.gov/40484375/). *J Biol Chem*. [Basic Science / Preclinical]
In Lee J (2024). [PMID: 38860480](https://pubmed.ncbi.nlm.nih.gov/38860480/). *Mol Genet Genomic Med*. [Case Report / Case Series]

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 1:22 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:608029

Orphanet

European rare disease database

Orphanet:284332

GARD

Genetic and Rare Diseases Info Center

GARD:4954

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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infantile-onset autosomal recessive nonprogressive cerebellar ataxia

Overview

Clinical Presentation

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

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