Klippel-trÉnaunay Syndrome

Clinical Features

Top most frequent phenotypes and symptoms related to Klippel-trÉnaunay Syndrome

  • Intellectual disability
  • Microcephaly
  • Hepatomegaly
  • Macrocephaly
  • Respiratory insufficiency
  • Atrial septal defect
  • Edema
  • Congestive heart failure
  • Patent ductus arteriosus
  • Hematuria

And another 21 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Based on the latest data available Klippel-trÉnaunay Syndrome have a estimated prevalence of 0.007 per 100k worldwide.
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.


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Klippel-trÉnaunay Syndrome Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Klippel-Trenaunay-Weber syndrome (IVS11-1439C>G, I405I and E133K polymorphism, AGGF1 gene).

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases (Spain).

AGGF1
Specificity
100 %
Genes
100 %
AGGF1.

By Fulgent Genetics Fulgent Genetics (United States).

AGGF1
Specificity
100 %
Genes
100 %
KLIPPEL-TRÉNAUNAY SYNDROME.

By Laboratorio de Genetica Clinica SL (Spain).

AGGF1
Specificity
100 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

ORPHANET Rare Disease Symptoms Checker

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