disease: Branchiootorenal syndrome 2

nameBranchiootorenal syndrome 2
descriptionBranchiootorenal 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.
variant-disease NM_175875.5(SIX5):c.1261G>A (p.Val421Ile) AND Branchiootorenal syndrome 2
NM_175875.5(SIX5):c.1093G>A (p.Gly365Arg) AND Branchiootorenal syndrome 2
NM_175875.5(SIX5):c.1655C>T (p.Thr552Met) AND Branchiootorenal syndrome 2
NM_175875.5(SIX5):c.886G>A (p.Ala296Thr) AND Branchiootorenal syndrome 2
NM_175875.5(SIX5):c.472G>A (p.Ala158Thr) AND Branchiootorenal syndrome 2
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