Spinocerebellar Ataxia 45; Sca45

Clinical Features

Phenotypes and symptoms related to Spinocerebellar Ataxia 45; Sca45

  • Ataxia
  • Nystagmus
  • Dysarthria
  • Cerebellar atrophy
  • Gait ataxia
  • Limb ataxia
  • Cerebellar vermis atrophy
  • Downbeat nystagmus

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 45; Sca45 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
FAT2.

By Fulgent Genetics Fulgent Genetics (United States).

FAT2
Specificity
100 %
Genes
100 %
Tempus xO assay.

By Tempus Labs, Inc. (United States).

BCL6, RHEB, RIPK1, RIPK2, RIPK3, RIT1, BCL7A, BCL9, BCR, ROBO2, ROCK1, ROCK2, ROR1, ROR2, ROS1, RPA1, BDNF, RPL5, RPN1, RPS6KB1 , (...)

View the complete list with 1627 more genes
Specificity
1 %
Genes
100 %

You can get up to -6 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 Symptoms Checker

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