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GTR Home > Conditions/Phenotypes > Ophthalmoplegia, external, with rib and vertebral anomalies

Ophthalmoplegia, external, with rib and vertebral anomalies

Summary

External ophthalmoplegia with rib and vertebral anomalies (EORVA) is characterized by congenital nonprogressive external ophthalmoplegia and ptosis, with torticollis and scoliosis developing during childhood. In addition, patients exhibit hypoplastic or missing ribs with fusion anomalies (Di Gioia et al., 2018). [from OMIM]

Genes See tests for all associated and related genes

  • Also known as: EORVA, bHLHc2, MYF5
    Summary: myogenic factor 5

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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