Cerebro-oculo-facio-skeletal syndrome Gene Set

Dataset ClinVar Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
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)
External Link http://www.omim.org/entry/214150
Similar Terms
Downloads & Tools


1 genes associated with the Cerebro-oculo-facio-skeletal syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Symbol Name
ERCC6 excision repair cross-complementation group 6