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combined oxidative phosphorylation defect type 7

Disease Summary
Associated Targets (1)
Tbio

1


Mondo Description 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.
Uniprot Description A mitochondrial disease resulting in encephalomyopathy. Clinical manifestations include psychomotor delay and regression, ataxia, optic atrophy, nystagmus and muscle atrophy and weakness.
Mondo Term and Equivalent IDs
MONDO:0013306:  combined oxidative phosphorylation defect type 7
DOID:0111487: 
Orphanet:254930: 
SCTID:763204003: 
UMLS:C3150801: