PAX2 and Townes-Brocks syndrome: In 2/8 (25%) cases, Townes-Brocks syndrome 1 (MIM #107480) was diagnosed, with one pathogenic and one likely pathogenic variant in SALL1. In 2/8 (25%) cases, Branchiootorenal syndrome 1 (MIM # 113650) was diagnosed, with a likely pathogenic and a pathogenic variant in EYA1. 1/8 (13%) cases had a papillorenal syndrome (MIM #120330) caused by a likely pathogenic variant in PAX2. Additionally, in 1/8 (13%) cases, a chromosome 17q12 deletion syndrome [MIM #614527] was detected which included HNF1B. 5/8 (63%) disease-causing variants have not been described in the literature so far.