Combined oxidative phosphorylation defect type 7

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Combined oxidative phosphorylation defect type 7

Synonyms: COXPD7 | Severe C12ORF65-related COXPD | Severe C12ORF65-related combined oxidative phosphorylation defect

Combined oxidative phosphorylation defect type 7 is a rare mitochondrial disease due to a defect in mitochondrial protein synthesis characterized by a variable phenotype that includes onset in infancy or early childhood of failure to thrive and psychomotor regression (after initial normal development) as well as ocular manifestations (such as ptosis nystagmus optic atrophy ophthalmoplegia and reduced vision). Additional manifestations include bulbar paresis with facial weakness hypotonia difficulty chewing dysphagia mild dysarthria ataxia global muscle atrophy and areflexia. It has a relatively slow disease progression with patients often living into the third decade of life.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on Data version December 2023

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Combined oxidative phosphorylation defect type 7?

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Advocacy Organizations

Cure Mito Foundation

Our mission is to empower families to come together with a common goal of finding treatments, and ultimately a cure, for this devastating disease.

Mississippi Metabolics Foundation

Mississippi Metabolics Foundation (MMF) was founded to raise awareness, educate, and provide support to those living or caring for someone with genetic metabolic disorders/inborn errors of metabolism (IEM).


MitoAction’s mission is to improve the quality of life for children, adults, and families living with mitochondrial disease through support, education, outreach, advocacy, clinical research initiatives and by granting wishes for children affected by mitochondrial disease.


MitoCanada's mission is to create a world where all lives are powered by healthy mitochondria. We are dedicated to supporting Canadians living with mitochondrial disease by developing education and awareness programs, advocating to improve the health and quality of life of those living with mito at provincial and federal levels, and we fund research that is patient-focused and transformational.

United Mitochondrial Disease Foundation (UMDF)

Promoting research and education for the diagnosis, treatment and cure of mitochondrial disorders and to provide support to affected individuals and families. We are driven by a nationwide community of ambassadors solely focused on supporting patients and families affected by mitochondrial disease. We are committed and energized to make a difference by funding the best science in the world.

Clinical Trials

For a list of clinical trials in this disease area, please click here.