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GTR Home > Conditions/Phenotypes > Cerebrooculofacioskeletal syndrome 1

Cerebrooculofacioskeletal syndrome 1

Synonyms
Cerebro-oculo-facio-skeletal syndrome 1

Summary

An autosomal recessive subtype of cerebrooculofacioskeletal syndrome caused by mutation(s) in the ERCC6 gene, encoding DNA excision repair protein ERCC-6. [from NCI]

Available tests

44 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (44 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: ARMD5, CKN2, COFS, COFS1, CSB, CSB-PGBD3, POF11, RAD26, UVSS1, ERCC6
    Summary: ERCC excision repair 6, chromatin remodeling factor

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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