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GTR Home > Conditions/Phenotypes > Combined oxidative phosphorylation defect type 7

Combined oxidative phosphorylation defect type 7

Synonyms
Combined oxidative phosphorylation deficiency 7
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

A rare mitochondrial disease due to a defect in mitochondrial protein synthesis with 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. [from SNOMEDCT_US]

Available tests

57 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (57 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: C12orf65, COXPD7, SPG55, mtRF-R, MTRFR
    Summary: mitochondrial translation release factor in rescue

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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