Although the methylation rate was slightly above the cutoff value for the diagnostic criteria of FSHD219, this does not argue against the pathogenicity of the p.Asp398Asn variant, because a certain percentage of previously reported BAMS patients with pathogenic SMCHD1 mutations showed methylation rates higher than 30%16. This evidence concerns the gene SMCHD1 and arhinia, choanal atresia, and microphthalmia.