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GTR Home > Conditions/Phenotypes > Combined oxidative phosphorylation defect type 30

Combined oxidative phosphorylation defect type 30

Synonyms
Combined oxidative phosphorylation deficiency 30
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

A rare mitochondrial oxidative phosphorylation disorder with characteristics of neonatal onset of hypotonia, feeding difficulties, deafness, and early fatal respiratory failure. Cardiac and liver involvement has been reported. Serum lactate is increased and metabolic studies show decreased activity of mitochondrial respiratory complexes I and IV in skeletal muscle. [from SNOMEDCT_US]

Available tests

14 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (14 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: COXPD30, HNYA, MRPP1, RG9MTD1, TRMT10C
    Summary: tRNA methyltransferase 10C, mitochondrial RNase P subunit

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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