Kidney abnormalities were present in 8/328 (2.43%) subjects and were found only in males, with a significantly higher prevalence in patients with KS than in those with nCHH (P = 0.023); among patients with kidney abnormalities, those harboring RVs were 5/8 and they all involved ANOS1. Midline defects were present in 31/336 (9.45%) subjects, with a significantly higher prevalence in male patients (P = 0.010) and KS patients (P = 0.007); among patients with midline defects and harboring RVs, 3/12 RVs were in ANOS1 and 5/12 were in FGFR1 (fibroblast growth factor receptor 1). This evidence concerns the gene FGFR1 and Abnormality of the kidney.