Disorders


 

Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, and Calvarial Hyperostosis


 

OMIM

GeneLocusProtein
COX4I220q11.21Cytochrome c oxidase subunit 4 isoform 2

Laboratory Test Method Prenatal Carrier *
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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