Disorders

Combined Oxidative Phosphorylation Deficiency 2

Synonym(s): Agenesis of Corpus Callosum with Dysmorphism and Fatal Lactic Acidosis, COXPD2

Gene	Locus	Protein
MRPS16	10q22.1	28S ribosomal protein S16

Laboratory	Test Method	Prenatal	Carrier *
Baylor College of Medicine, Medical Genetics Laboratories - Houston, TX, USA
Edith Wolfson Medical Center, Molecular Genetics Laboratory - Holon, Israel
GeneDx - Gaithersburg, MD, USA
Medical Neurogenetics - Atlanta, GA, USA
MGZ München, Medizinisch Genetisches Zentrum München - München, Germany

^* 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.