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COACH syndrome 3

Summary

COACH syndrome is classically defined as Cerebellar vermis hypoplasia, Oligophrenia, Ataxia, Colobomas, and Hepatic fibrosis (Verloes and Lambotte, 1989). Brain MRI demonstrates the molar tooth sign, which is a feature of Joubert syndrome. The disorder has been described as a Joubert syndrome-related disorder with liver disease (summary by Doherty et al., 2010). For a general phenotypic description and a discussion of genetic heterogeneity of COACH syndrome, see 216360. [from OMIM]

Available tests

6 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (6 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: COACH3, CORS3, FTM, JBTS7, MKS5, NPHP8, PPP1R134, RPGRIP1L
    Summary: RPGRIP1 like

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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