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GTR Home > Conditions/Phenotypes > Spinocerebellar ataxia 46

Spinocerebellar ataxia 46

Synonyms
SPINOCEREBELLAR ATAXIA, 46, AUTOSOMAL DOMINANT, WITH SENSORY AXONAL NEUROPATHY
Modes of inheritance
Autosomal dominant inheritance (Orphanet)

Summary

A rare autosomal dominant cerebellar ataxia with characteristics of slowly progressive late-onset cerebellar ataxia variably combined with sensory axonal neuropathy. Patients may present gait and limb ataxia, dysarthria, abnormal oculomotor function and distal sensory impairment. Cerebellar atrophy is typically mild or absent. [from SNOMEDCT_US]

Available tests

4 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (4 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: AD19, HU-K4, HUK4, SCA46, PLD3
    Summary: phospholipase D family member 3

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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