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Joubert syndrome with hepatic defect
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).
Postaxial hand polydactyly
Supernumerary digits located at the ulnar side of the hand (that is, on the side with the fifth finger).
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PMID (PMCID)