Motivated by recent findings for individuals with NR6A1 ultra-rare variants who not only displayed vertebral anomalies but also eye disorders, renal and uterine anomalies17,18, we also assessed the impact of the genetic variants in NR6A1, GPC3, ACVR2B, and VRTN beyond vertebral-related traits. The gene discussed is ACVR2B; the disease is eye disorder.