Moreover, D4Z4 hypomethylation, in the presence of the haplotype 4qA/PAS distal to the D4Z4 array, which is considered permissive of DUX4 expression, is not associated with a muscle phenotype in patients with Bosma Arhinia and Microphthalmia syndrome (BAMS), patients affected with ICF (Immunodeficiency, Centromeric Instability, and Facial anomalies) homozygotes for DNMT3B mutation and their heterozygote parents [78], or patients carrying a deletion of the 18p chromosome containing the SMCHD1 gene [77]. Here, SMCHD1 is linked to arhinia, choanal atresia, and microphthalmia.