Disorders


 

Stuve-Wiedemann Syndrome


Synonym(s): Schwartz-Jampel Syndrome, Neonatal, Schwartz-Jampel Syndrome, Type 2

 

OMIM

GeneLocusProtein
LIFR5p13-p12Leukemia inhibitory factor receptor

Laboratory Test Method Prenatal Carrier *
Center for Human Genetics Freiburg, Kohlhase Laboratory - Freiburg, Germany  
Centogene AG, Rare Disease Company - Rostock, Germany  
Connective Tissue Gene Tests - Allentown, PA, USA  
diagenos - Osnabrueck, Germany  
Medgene, MedGene - Bratislava, Slovakia  
MGZ München, Medizinisch Genetisches Zentrum München - München, Germany• Sequence analysis of select exons
  
Praxis fuer Humangenetik Wien - Vienna, Austria  

* Carrier column is relevant to autosomal recessive and X-linked inheritance; column will be blank when it is not relevant (e.g. autosomal dominant inheritance, microdeletions/duplications) and/or is not offered by the lab.

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