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GTR Home > Conditions/Phenotypes > Combined oxidative phosphorylation defect type 25

Combined oxidative phosphorylation defect type 25

Synonyms
Combined oxidative phosphorylation deficiency 25
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

A rare mitochondrial oxidative phosphorylation disorder with decreased respiratory complex I and IV enzyme activity. Characteristics of this disease hypotonia, global developmental delay, neonatal onset of progressive pectus carinatum without other skeletal abnormalities, poor growth, sensorineural hearing loss, dysmorphic features and brain abnormalities such as cerebral atrophy, quadriventricular dilatation and thin corpus callosum posteriorly. [from SNOMEDCT_US]

Available tests

27 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (27 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: COXPD25, MetRS, mtMetRS, MARS2
    Summary: methionyl-tRNA synthetase 2, mitochondrial

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

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