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GTR Home > Conditions/Phenotypes > Osteootohepatoenteric syndrome

Osteootohepatoenteric syndrome

Summary

Osteootohepatoenteric syndrome (OOHE) is characterized by a variable combination of bone fragility, hearing loss, cholestasis, and congenital diarrhea. Some patients also display mild developmental delay and intellectual disability (Esteve et al., 2018). [from OMIM]

Available tests

3 tests are in the database for this condition.

Clinical tests (3 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: GC-UNC45, GCUNC-45, GCUNC45, IRO039700, OOHE, SMAP-1, SMAP1, UNC-45A, UNC45A
    Summary: unc-45 myosin chaperone A

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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