combined oxidative phosphorylation defect type 7

Rare Disease

MONDO:0013306

Also Known As

C12ORF65 combined oxidative phosphorylation deficiencyC12orf65 combined oxidative phosphorylation deficiencyCOXPD7combined oxidative phosphorylation deficiency caused by mutation in C12ORF65combined oxidative phosphorylation deficiency caused by mutation in C12orf65combined oxidative phosphorylation deficiency type 7severe C12ORF65-related COXPDsevere C12ORF65-related combined oxidative phosphorylation defectcombined oxidative phosphorylation deficiency 7

Definition

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.