SMCHD1 mutations were also identified as a causal factor in two distinct human disorders, Facioscapulohumeral muscular dystrophy (FSHD) and Bosma arhinia and microphthalmia (BAMS), both of which showed aberrations in genomic structure and epigenetic modifications [41]. Here, SMCHD1 is linked to arhinia, choanal atresia, and microphthalmia.