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GTR Home > Conditions/Phenotypes > Combined oxidative phosphorylation defect type 2

Combined oxidative phosphorylation defect type 2

Synonyms
CORPUS CALLOSUM, AGENESIS OF, WITH DYSMORPHISM AND FATAL LACTIC ACIDOSIS; Combined oxidative phosphorylation deficiency 2
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

A rare mitochondrial disorder due to a defect in mitochondrial protein synthesis characterized by severe intrauterine growth retardation, neonatal limb edema and redundant skin on the neck (hydrops), developmental brain defects (corpus callosum agenesis, ventriculomegaly), brachydactyly, dysmorphic facial features with low set ears, severe intractable neonatal lactic acidosis with lethargy, hypotonia, absent spontaneous movements and fatal outcome. Markedly decreased activity of complex I, II + III and IV in muscle and liver have been determined. [from SNOMEDCT_US]

Available tests

25 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (25 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CGI-132, COXPD2, MRP-S16, RPMS16, S16mt, bS16m, MRPS16
    Summary: mitochondrial ribosomal protein S16

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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