Ataxia, Sensory, 1, Autosomal Dominant; Snax1

Clinical Features

Top most frequent phenotypes and symptoms related to Ataxia, Sensory, 1, Autosomal Dominant; Snax1

  • Ataxia
  • Dysarthria
  • Gait disturbance
  • Dysphagia
  • Congestive heart failure
  • Areflexia
  • Hyporeflexia
  • Babinski sign
  • Dysmetria
  • Falls

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

Click here to know more about Mendelian.

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

Ataxia, Sensory, 1, Autosomal Dominant; Snax1 Is also known as adsa.

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.


Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Ataxia, Sensory, 1, Autosomal Dominant; Snax1 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 %
AllNeuro panel.

By Centogene AG - the Rare Disease Company (Germany).

BCS1L, ROR2, RPL10, BDNF, RPS6KA3, RTN2, RYR1, SACS, BIN1, SBF1, SCN10A, SCN1A, SCN1B, SCN2A, SCN3A, SCN4A, SCN5A, SCN8A, SCN9A, SCO1 , (...)

View the complete list with 1177 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 %
RNF170.

By Fulgent Genetics Fulgent Genetics (United States).

RNF170
Specificity
100 %
Genes
100 %

We have -4 more panels available in our App

Get the app

Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Symptoms Checker

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like RENAL TUBULAR ACIDOSIS, PROXIMAL, WITH OCULAR ABNORMALITIES AND MENTAL RETARDATION MYASTHENIC SYNDROME, CONGENITAL, 4B, FAST-CHANNEL; CMS4B GLANZMANN THROMBASTHENIA; GT HEREDITARY COPROPORPHYRIA CARDIOMYOPATHY, DILATED, 1J; CMD1J SPASTIC PARAPLEGIA 10, AUTOSOMAL DOMINANT; SPG10 SALIVARY GLAND ADENOMA, PLEOMORPHIC

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more