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GTR Home > Conditions/Phenotypes > Autosomal recessive spinocerebellar ataxia 18

Autosomal recessive spinocerebellar ataxia 18

Summary

Autosomal recessive spinocerebellar ataxia-18 (SCAR18) is a neurologic disorder characterized by delayed psychomotor development, severely impaired gait due to cerebellar ataxia, ocular movement abnormalities, and intellectual disability. Brain imaging shows progressive cerebellar atrophy (summary by Hills et al., 2013). [from OMIM]

Available tests

11 tests are in the database for this condition.

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Clinical tests (11 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: GluD2, SCAR18, GRID2
    Summary: glutamate ionotropic receptor delta type subunit 2

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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