Catalog

Joubert syndrome with hepatic defect

No MMS code

Link to WHO Definition

Joubert syndrome with hepatic defect – http://id.who.int/icd/entity/139444027

Joubert syndrome with hepatic defect is a very rare subtype of Joubert syndrome related disorders (JSRD) characterised by the neurological features of Joubert syndrome associated with congenital hepatic fibrosis (CHF).