Spinocerebellar Ataxia, Autosomal Recessive 22; Scar22

Clinical Features

Top most frequent phenotypes and symptoms related to Spinocerebellar Ataxia, Autosomal Recessive 22; Scar22

  • Intellectual disability
  • Ataxia
  • Nystagmus
  • Spasticity
  • Hyperreflexia
  • Dysarthria
  • Tremor
  • Hypoplasia of the corpus callosum
  • Cerebellar atrophy
  • Abnormal pyramidal sign

And another 7 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.

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, Autosomal Recessive 22; Scar22 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Ataxia Exome Panel.

By Genetic Services Laboratory University of Chicago (United States).

BCS1L, RTN2, SACS, SCN1A, SCN2A, SCN8A, SCO1, SDHA, SDHD, SLC16A2, SLC17A5, SLC19A2, SLC1A3, SLC20A2, SLC2A1, SLC6A1, SLC9A1, SLC9A6, SNAP25, SOD1 , (...)

View the complete list with 457 more genes
Specificity
1 %
Genes
100 %
Ataxia and differential diagnoses Panel.

By CeGaT GmbH (Germany).

RPIA, SACS, ATXN1, ATXN10, ATXN2, ATXN7, SCN2A, SLC17A5, SLC1A3, SLC6A1, SLC9A1, SNAP25, BTD, SPG7, SPR, SPTBN2, STUB1, TBP, TWNK, ACO2 , (...)

View the complete list with 184 more genes
Specificity
1 %
Genes
100 %
VWA3B.

By Fulgent Genetics Fulgent Genetics (United States).

VWA3B
Specificity
100 %
Genes
100 %

You can get up to -5 more panels with our dedicated tool

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Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Search Engine

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