Previously, the GDF6 c.746C>A variant was reported in patients with KFS-like skeletal anomalies [17, 18, 20], Chiari malformation [24], micro- or anophthalmia [20–22], and Leber congenital amaurosis or juvenile retinitis pigmentosa [19] (Supplementary Table 9), demonstrating that it can be associated with a spectrum of different phenotypes. Here, GDF6 is linked to Klippel-Feil syndrome 1, autosomal dominant.