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GTR Home > Conditions/Phenotypes > Autosomal recessive spinocerebellar ataxia 11

Autosomal recessive spinocerebellar ataxia 11

Summary

A rare hereditary cerebellar ataxia disorder with characteristics of late-onset spinocerebellar ataxia, manifesting with slowly progressive gait disturbances, dysarthria, limb and truncal ataxia and smooth-pursuit eye movement disturbance, associated with a history of psychomotor delay from childhood. Mild atrophy of the cerebellar vermis and hemispheres is observed on brain imaging. There is evidence the disease is caused by homozygous mutation in the SYT14 gene on chromosome 1q32. [from SNOMEDCT_US]

Available tests

15 tests are in the database for this condition.

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Clinical tests (15 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: SCAR11, sytXIV, SYT14
    Summary: synaptotagmin 14

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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