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. The gene discussed is SMCHD1; the disease is facioscapulohumeral muscular dystrophy.