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spinocerebellar ataxia, autosomal recessive 29 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

spinocerebellar ataxia, autosomal recessive 29

MONDO:0030312

Also known as:Barakat-Van Ham-Kaya syndromeSCAR29neurodevelopmental disorder with hypotonia and cerebellar ataxia

Overview

GeneticsAutosomal recessive · VPS41 (chr 7)

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 always present findings: Peripheral axonal neuropathy, Inability to walk, Ataxia, and Generalized dystonia and others; and very common findings: Low muscle tone (hypotonia), Motor delay, and Intellectual disability. 22 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	10	Peripheral axonal neuropathy, Inability to walk, Seizure

Genetic Landscape

VPS41 function has not been fully characterized.

Spinocerebellar ataxia, autosomal recessive 29 is associated with mutations in the VPS41 gene on chromosome 7.

Diagnosis

Genetic testing for VPS41 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for spinocerebellar ataxia, autosomal recessive 29 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 7 always present features, 3 very common features, 4 common features.

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 spinocerebellar ataxia, autosomal recessive 29.

131 publications have been identified in PubMed for spinocerebellar ataxia, autosomal recessive 29. Research spans Review / Meta-Analysis (63%), Basic Science / Preclinical (19%), and Epidemiology / Natural History (7%).

Research Type	Count	% of Total
Research summaries	81	63%

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 9:59 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:619389

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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Kisho

spinocerebellar ataxia, autosomal recessive 29

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

spinocerebellar ataxia, autosomal recessive 29

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications