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spinocerebellar ataxia, X-linked 2 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

spinocerebellar ataxia, X-linked 2

MONDO:0010548

Also known as:spinocerebellar ataxia, X-linked type 2Scax2cerebellar ataxia with extrapyramidal involvement early-onset

Overview

GeneticsX-linked

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: Ataxia and Movement control problems (abnormality of extrapyramidal motor function).

Organ System	Phenotype Count	Example Features
Brain and nerves	2	Ataxia, Movement control problems (abnormality of extrapyramidal motor function)

Explore clinical 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, X-linked 2.

10 publications have been identified in PubMed for spinocerebellar ataxia, X-linked 2. Research spans Basic Science / Preclinical (60%), Case Report / Case Series (20%), and Review / Meta-Analysis (10%).

Research Type	Count	% of Total
Laboratory research	6	60%

Data assembled from 4 of 12 sources · Last updated Sep 20, 2026, 6:22 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:302600

GARD

Genetic and Rare Diseases Info Center

GARD:9978

Questions for Your Care Team

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spinocerebellar ataxia, X-linked 2

Overview

Clinical Presentation

Explore clinical features

Research Landscape

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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