SMCHD1 is also mutated in Bosma Arhinia and Microphthalmia Syndrome (BAMS), a rare developmental syndrome characterized by the absence of a nose, olfactory bulbs, microphthalmia, and isolated hypogonadotrophic hypogonadism (IHH) likely associated with a defect in the formation of the nasal placode surrounding neural crest cells migration or impaired projection of the gonadotrophin-releasing hormone (GnRH) neurons during embryogenesis [5,6]. Here, SMCHD1 is linked to microphthalmia.