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GTR Home > Conditions/Phenotypes > Cerebrooculofacioskeletal syndrome 2

Cerebrooculofacioskeletal syndrome 2

Summary

Any COFS syndrome in which the cause of the disease is a mutation in the ERCC2 gene. [from MONDO]

Available tests

40 tests are in the database for this condition.

Clinical tests (40 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: COFS2, EM9, TFIIH, TTD, TTD1, XPD, ERCC2
    Summary: ERCC excision repair 2, TFIIH core complex helicase subunit

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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