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GTR Home > Conditions/Phenotypes > Autosomal recessive spinocerebellar ataxia 7

Autosomal recessive spinocerebellar ataxia 7

Synonyms
Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Autosomal recessive spinocerebellar ataxia is a neurologic disorder characterized by onset of progressive gait difficulties, eye movement abnormalities, and dysarthria in the first or second decade of life (summary by Dy et al., 2015). [from OMIM]

Available tests

46 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (46 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CLN2, GIG1, LPIC, SCAR7, TPP-1, TPP1
    Summary: tripeptidyl peptidase 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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