U.S. flag

An official website of the United States government

GTR Home > Conditions/Phenotypes > Combined oxidative phosphorylation deficiency 56

Combined oxidative phosphorylation deficiency 56

Summary

Combined oxidative phosphorylation deficiency-56 (COXPD56) is an autosomal recessive disorder characterized by lethargy at birth, hypotonia, developmental delay, myopathy, and ptosis (Thompson et al., 2022). For a discussion of genetic heterogeneity of combined oxidative phosphorylation deficiency, see COXPD1 (609060). [from OMIM]

Genes See tests for all associated and related genes

  • Also known as: C3orf31, COXPD56, RAM41, TAM41, TAMM41
    Summary: TAM41 mitochondrial translocator assembly and maintenance homolog

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

Show allHide all

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.