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GTR Home > Conditions/Phenotypes > Combined oxidative phosphorylation deficiency 45

Combined oxidative phosphorylation deficiency 45

Summary

Combined oxidative phosphorylation deficiency-45 (COXPD45) is an autosomal recessive multisystem disorder characterized by poor overall growth apparent from infancy, global developmental delay, seizures, and acute progressive neurologic deterioration with loss of skills. Other features may include dysmorphic facies and lesions on brain imaging. Laboratory studies show increased serum lactate and COXPD in patient tissues, consistent with a mitochondrial defect (summary by Serre et al., 2013). For discussion of genetic heterogeneity of combined oxidative phosphorylation deficiency, see COXPD1 (609060). [from OMIM]

Available tests

4 tests are in the database for this condition.

Clinical tests (4 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: 5c5-2, L12mt, MRP-L31/34, MRPL7, MRPL7/L12, RPML12, bL12m, MRPL12
    Summary: mitochondrial ribosomal protein L12

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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