Disorders


 

Schimke Immunoosseous Dysplasia


Synonym(s): Spondyloepiphyseal Dysplasia, Autosomal Recessive, Spondylo-Epiphyseal Dysplasia, Autosomal Recessive

 

GeneReviewOMIM

GeneLocusProtein
SMARCAL12q35SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A-like protein 1

Laboratory Test Method Prenatal Carrier *
Center for Nephrology and Metabolic Disorders, Laboratory for Molecular Diagnostics - Weisswasser, Germany  
Cologne University, Institute of Human Genetics - Cologne, Germany  
GENETAQ, Molecular Genetics Centre - Malaga, Spain  
PreventionGenetics, Clinical DNA Testing and DNA Banking - Marshfield, WI, USA  

* 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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