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autosomal recessive spinocerebellar ataxia 11 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

autosomal recessive spinocerebellar ataxia 11

MONDO:0013645

Also known as:SCAR11SYT14 autosomal recessive syndromic cerebellar ataxiaautosomal recessive spinocerebellar ataxia type 11

Overview

Any autosomal recessive syndromic cerebellar ataxia in which the cause of the disease is a mutation in the SYT14 gene.

GeneticsAutosomal recessive · SYT14 (chr 1)

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: Truncal ataxia, Difficulty walking (gait disturbance), Shrinkage of the cerebellum (cerebellar atrophy), and Dysarthria and others; and common findings: Gaze-evoked horizontal nystagmus, Impaired smooth pursuit, and Cerebellar vermis atrophy. 11 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	7	Difficulty swallowing (dysphagia), Truncal ataxia, Difficulty walking (gait disturbance)

Genetic Landscape

SYT14 function has not been fully characterized.

Autosomal recessive spinocerebellar ataxia 11 is associated with mutations in the SYT14 gene on chromosome 1.

Diagnosis

Genetic testing for SYT14 is available. Testing is considered confirmatory for diagnosis.

Prognosis

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

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

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 5:14 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:614229

Orphanet

European rare disease database

Orphanet:284271

GARD

Genetic and Rare Diseases Info Center

GARD:17312

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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autosomal recessive spinocerebellar ataxia 11

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Medical References

External Resources

OMIM

Orphanet

GARD

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Questions for Your Care Team

Questions for Your Care Team

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