BCS1L and GRACILE syndrome: Features consistent with GRACILE syndrome were more frequently reported in patients with homozygosity or compound heterozygosity for the c.232A>G (p.Ser78Gly) variant, whilst features such as movement disorders and seizures were predominantly observed in patients with pathogenic BCS1L variants other than c.232A>G (p.Ser78Gly) (Table 3).