Klippel-trÉnaunay Syndrome
Table of contents:
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.
Click here to know more about Mendelian.
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.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 % |
You can get up to -5 more panels with our dedicated tool
Learn moreSources and references
You can check the following sources for additional information.
ORPHANET Rare Disease Symptoms CheckerIf you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like USHER SYNDROME, TYPE IIA; USH2A SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION; SSMED LUJAN-FRYNS SYNDROME ICF SYNDROME MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 13; MGR13