SMCHD1 and arhinia, choanal atresia, and microphthalmia: Heterozygous variants in SMCHD1 are also associated with the human diseases Facioscapulohumeral muscular dystrophy (FSHD) and Bosma arhinia microphthalmia (BAMS)16–19, demonstrating the important role SMCHD1 plays in normal development.