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Branchiootorenal syndrome 1

Synonyms
EYA1-Related Branchiootorenal Spectrum Disorders

Summary

Excerpted from the GeneReview: Branchiootorenal Spectrum Disorder
Branchiootorenal spectrum disorder (BORSD) is characterized by malformations of the outer, middle, and inner ear associated with conductive, sensorineural, or mixed hearing impairment, branchial fistulae and cysts, and renal malformations ranging from mild renal hypoplasia to bilateral renal agenesis. Some individuals progress to end-stage renal disease (ESRD) later in life. Extreme variability can be observed in the presence, severity, and type of branchial arch, otologic, audiologic, and renal abnormality from right side to left side in an affected individual and also among individuals in the same family.
Full text of GeneReview (by section):
Summary
GeneReview Scope
Diagnosis
Clinical Characteristics
Genetically Related (Allelic) Disorders
Differential Diagnosis
Management
Genetic Counseling
Resources
Molecular Genetics
References
Chapter Notes
Authors:
Richard JH Smith
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Available tests

68 tests are in the database for this condition.

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Clinical tests (68 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

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

  • Also known as: BOS3, DFNA23, TIP39, SIX1
    Summary: SIX homeobox 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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