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Joubert syndrome with hepatic defect

Disease definition

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).

ORPHA:1454

  • Synonym(s):
    • COACH syndrome
    • Cerebellar vermis hypoplasia-oligophrenia-congenital ataxia-coloboma-hepatic fibrosis
    • Gentile syndrome
    • JS-H
    • Joubert syndrome with congenital hepatic fibrosis
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Neonatal
  • ICD-10: Q04.3
  • OMIM: 216360
  • UMLS: C1857662
  • MeSH: -
  • GARD: 1410
  • MedDRA: -

Detailed information

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