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GTR Home > Conditions/Phenotypes > Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3

Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3

Synonyms
Combined oxidative phosphorylation deficiency 3; ENCEPHALOMYOPATHY, RESPIRATORY FAILURE, AND LACTIC ACIDOSIS
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Combined oxidative phosphorylation deficiency type 3 is an extremely rare clinically heterogenous disorder described in about 5 patients to date. Clinical signs included hypotonia, lactic acidosis, and hepatic insufficiency, with progressive encephalomyopathy or hypertrophic cardiomyopathy. [from ORDO]

Available tests

53 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (53 available)

Biochemical Genetics Tests

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: EFTS, EFTSMT, TSFM
    Summary: Ts translation elongation factor, mitochondrial

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

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