GTR Home > Conditions/Phenotypes > Branchiootorenal syndrome 2

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.

Available tests

34 tests are in the database for this condition.

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Genes See tests for all associated and related genes

  • Also known as: BOR2, DMAHP, SIX5
    Summary: SIX homeobox 5

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