U.S. flag

An official website of the United States government

GTR Home > Conditions/Phenotypes > Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3

Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3

Synonyms
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL RECESSIVE 3

Summary

Any autosomal recessive progressive external ophthalmoplegia in which the cause of the disease is a mutation in the TK2 gene. [from MONDO]

Available tests

39 tests are in the database for this condition.

Clinical tests (39 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: MTDPS2, MTTK, PEOB3, SCA31, TK2-EXT, TK2
    Summary: thymidine kinase 2

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.