|Dataset||ClinVar Gene-Phenotype Associations|
|Category||disease or phenotype associations|
|Description||Cerebrooculofacioskeletal (COFS) syndrome is a rare genetic disorder, belonging to a family of diseases of DNA repair, characterized by a severe sensorineural involvement. (Orphanet Rare Disease Ontology, Orphanet_1466)|
|Downloads & Tools|
1 genes associated with the Cerebro-oculo-facio-skeletal syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
|ERCC6||excision repair cross-complementation group 6|