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GTR Home > Conditions/Phenotypes > Otofaciocervical syndrome 1

Otofaciocervical syndrome 1

Summary

Otofaciocervical syndrome (OTFCS) is a rare disorder characterized by facial anomalies, cup-shaped low-set ears, preauricular fistulas, hearing loss, branchial defects, skeletal anomalies including vertebral defects, low-set clavicles, winged scapulae, sloping shoulders, and mild intellectual disability (summary by Pohl et al., 2013). Genetic Heterogeneity of Otofaciocervical Syndrome OTFCS2 (615560) is caused by mutation in the PAX1 gene (167411) on chromosome 20p11. [from OMIM]

Available tests

40 tests are in the database for this condition.

Clinical tests (40 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: BOP, BOR, BOS1, OFC1, OTFCS, EYA1
    Summary: EYA transcriptional coactivator and phosphatase 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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