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GTR Home > Conditions/Phenotypes > Mitochondrial complex III deficiency

Mitochondrial complex III deficiency

Synonyms
Deficiency of mitochondrial complex III
Modes of inheritance
Autosomal recessive inheritance (Orphanet)
Mitochondrial inheritance (Orphanet)

Summary

Isolated complex III deficiency is a rare, genetic, mitochondrial oxidative phosphorylation disorder characterized by a wide spectrum of clinical manifestations ranging from isolated myopathy or transient hepatopathy to severe multisystem disorder (that may include hypotonia, failure to thrive, psychomotor delay, cardiomyopathy, encephalopathy, renal tubulopathy, hearing impairment, lactic acidosis, hypoglycemia and other signs and symptoms). [from ORDO]

Available tests

8 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (8 available)

Molecular Genetics Tests

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