Spinocerebellar Ataxia 46; Sca46

Clinical Features

Top most frequent phenotypes and symptoms related to Spinocerebellar Ataxia 46; Sca46

  • Ataxia
  • Nystagmus
  • Peripheral neuropathy
  • Dysarthria
  • Cerebellar atrophy
  • Gait ataxia
  • Abnormality of eye movement
  • Dysmetria
  • Distal sensory impairment
  • Sensory neuropathy

And another 10 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
No data available about the known clinical features onset.

Alternative names

Spinocerebellar Ataxia 46; Sca46 Is also known as spinocerebellar ataxia, 46, autosomal dominant, with sensory axonal neuropathy.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.

Spinocerebellar Ataxia 46; Sca46 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
PLD3.

By Fulgent Genetics Fulgent Genetics (United States).

PLD3
Specificity
100 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Symptoms Checker

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