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GTR Home > Conditions/Phenotypes > Combined oxidative phosphorylation defect type 11

Combined oxidative phosphorylation defect type 11

Synonyms
Combined oxidative phosphorylation deficiency 11; ENCEPHALONEUROMYOPATHY, INFANTILE, DUE TO MITOCHONDRIAL TRANSLATION DEFECT
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Combined oxidative phosphorylation deficiency-21 (COXPD11) is a severe multisystemic autosomal recessive disorder characterized by neonatal hypotonia and lactic acidosis. Affected individuals may have respiratory insufficiency, foot deformities, or seizures, and all reported patients have died in infancy. Biochemical studies show deficiencies of multiple mitochondrial respiratory enzymes (summary by Garcia-Diaz et al., 2012). For a discussion of genetic heterogeneity of combined oxidative phosphorylation deficiency, see COXPD1 (609060). [from OMIM]

Available tests

24 tests are in the database for this condition.

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Clinical tests (24 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: C6orf96, COXPD11, RMD1, bA351K16, bA351K16.3, RMND1
    Summary: required for meiotic nuclear division 1 homolog

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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