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GTR Home > Conditions/Phenotypes > XFE progeroid syndrome

XFE progeroid syndrome

Summary

An autosomal recessive condition caused by mutation(s) in the ERCC4 gene, encoding DNA repair endonuclease XPF. it is characterized by characterized by cutaneous photosensitivity and progeroid features in multiple organ systems. [from NCI]

Available tests

32 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (32 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: ERCC11, FANCQ, RAD1, XFEPS, XPF, ERCC4
    Summary: ERCC excision repair 4, endonuclease catalytic subunit

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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