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GTR Home > Conditions/Phenotypes > Fibrosis of extraocular muscles, congenital, 2

Fibrosis of extraocular muscles, congenital, 2

Synonyms
Congenital Fibrosis of the Extraocular Muscles 2; FEOM2 LOCUS; FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, AUTOSOMAL RECESSIVE; PHOX2A-Related Congenital Fibrosis of the Extraocular Muscles

Summary

Congenital fibrosis of extraocular muscles-2 (CFEOM2) is an autosomal recessive disorder in which affected individuals are born with bilateral ptosis and restrictive ophthalmoplegia with the globes fixed in extreme abduction (exotropia) (Wang et al., 1998, Nakano et al., 2001). For a general phenotypic description and a discussion of genetic heterogeneity of various forms of CFEOM, see CFEOM1 (135700). [from OMIM]

Available tests

13 tests are in the database for this condition.

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Clinical tests (12 available)

Molecular Genetics Tests

Research tests

Genes See tests for all associated and related genes

  • Also known as: ARIX, CFEOM2, FEOM2, NCAM2, PMX2A, PHOX2A
    Summary: paired like homeobox 2A

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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