" /> Joubert syndrome with hepatic defect - CISMeF





Preferred Label : Joubert syndrome with hepatic defect;

ICD-11 definition : Joubert syndrome with hepatic defect is a very rare subtype of Joubert syndrome related disorders (JSRD) characterized by the neurological features of oubert syndrome associated with congenital hepatic fibrosis (CHF).;

ICD-11 synonym : Joubert syndrome with congenital hepatic fibrosis; COACH - [Cerebellar vermis hypoplasia - oligophrenia - congenital ataxia - coloboma - hepatic fibrosis] syndrome; COACH syndrome; Cerebellar vermis hypoplasia - oligophrenia - congenital ataxia - coloboma - hepatic fibrosis;

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

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29/07/2025


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