Disorders


 

Otospondylomegaepiphyseal Dysplasia


Synonym(s): Chondrodystrophy with Sensorineural Deafness, OSMED

 

OMIM

GeneLocusProtein
COL11A26p21.3Collagen alpha-2(XI) chain

Laboratory Test Method Prenatal Carrier *
Addenbrooke's Hospital, Molecular Genetics Laboratory - Cambridge, Great Britain  
Center for Human Genetics and Laboratory Medicine Martinsried, Molecular Genetics - Martinsried, Germany  
Connective Tissue Gene Tests - Allentown, PA, USA  
Klinikum Stuttgart, Institute of Clinical Genetics - Stuttgart, Germany  
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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