Joubert syndrome and related disorders Joubert syndrome with hepatic defect ICD10:Q04.3 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). COACH syndrome JS-H orphanet Cerebellar vermis hypoplasia - oligophrenia - congenital ataxia - coloboma - hepatic fibrosis Gentile syndrome UMLS:C1857662 Joubert syndrome with congenital hepatic fibrosis OMIM:216360 Genetic syndrome with a cerebellar malformation as major feature Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual disability