Subsequent matching efforts identified five additional unrelated families harboring biallelic SUCO variants (including two homozygous genomic loss of function variants, p.G154Vfs*5 and c.3265+1G>A), presenting with phenotypes that included spasticity, osteogenesis imperfecta, and additional neurodevelopmental features (Figure 6a, Supplementary Table 10, Supplementary Video 2). The gene discussed is SUCO; the disease is osteogenesis imperfecta.