Disorders


 

Combined Oxidative Phosphorylation Deficiency 7


Synonym(s): COXPD7

 

OMIM

GeneLocusProtein
C12orf6512q24.31Probable peptide chain release factor C12orf65

Laboratory Test Method Prenatal Carrier *
Baylor College of Medicine, Medical Genetics Laboratories - Houston, TX, USA  
CeGaT GmbH - Tuebingen, Germany  
Centogene AG, Rare Disease Company - Rostock, Germany  
GeneDx - Gaithersburg, MD, 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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