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GTR Home > Conditions/Phenotypes > Combined oxidative phosphorylation defect type 27

Combined oxidative phosphorylation defect type 27

Synonyms
Combined oxidative phosphorylation deficiency 27
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Combined oxidative phosphorylation deficiency-27 (COXPD27) is an autosomal recessive multisystem disorder characterized mainly by neurologic features, including delayed development, seizures, abnormal movements, and neurologic regression. Age at onset, ranging from infancy to late childhood, and severity are variable. Other features include hypotonia, myoclonus, brain imaging abnormalities, and evidence of mitochondrial dysfunction in skeletal muscle. Liver dysfunction has also been reported (summary by Samanta et al., 2018). For a discussion of genetic heterogeneity of combined oxidative phosphorylation deficiency, see COXPD1 (609060). [from OMIM]

Available tests

19 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (19 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: COXPD27, cysRS, CARS2
    Summary: cysteinyl-tRNA synthetase 2, mitochondrial

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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