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GTR Home > Conditions/Phenotypes > Spinocerebellar ataxia type 40

Spinocerebellar ataxia type 40

Summary

A very rare disease with characteristics of adult-onset unsteady gait and dysarthria, followed by wide-based gait, gait ataxia, ocular dysmetria, intention tremor, scanning speech, hyperreflexia and dysdiadochokinesis. [from SNOMEDCT_US]

Available tests

13 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (13 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: DAPLE, HKRP2, HYC1, KIAA1509, SCA40, CCDC88C
    Summary: coiled-coil domain containing 88C

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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