|Dataset||ClinVar Gene-Phenotype Associations|
|Category||disease or phenotype associations|
|Description||Joubert syndrome with hepatic defect is a very rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with congenital hepatic fibrosis (CHF). (Orphanet Rare Disease Ontology, Orphanet_1454)|
|Downloads & Tools|
3 genes associated with the COACH syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.