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Diseases

Genetic and Rare Diseases Information Center (GARD)

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COACH syndrome


Other Names for this Disease
  • Cerebellar vermis hypo/aplasia, Oligophrenia, Ataxia congenital, Coloboma, and Hepatic fibrosis
  • Joubert syndrome with congenital hepatic fibrosis
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Your Questions Answered


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  • Three siblings were admitted to the hospital because of cirrhosis, mental retardation, and retinal malformations.  Do these individuals have COACH syndrome? Click here for answer