Branchiootorenal syndrome 2
Branchiootorenal syndrome 2
Definition
Any branchio-oto-renal syndrome in which the cause of the disease is a mutation in the SIX5 gene.
Also known as branchio-oto-renal syndrome caused by mutation in SIX5, branchiootorenal syndrome 2, branchiootorenal syndrome type 2, SIX5 branchio-oto-renal syndrome — per MONDO