Bosma arhinia microphthalmia syndromeOMIM Phenotype
Preferred Label : Bosma arhinia microphthalmia syndrome;
Symbol : BAMS;
CISMeF acronym : BAMS;
Type : Phenotype, molecular basis known;
Alternative titles and symbols : Arhinia, choanal atresia, microphthalmia, and hypogonadotropic hypogonadism;
Inheritance : Autosomal dominant;
Molecular basis : Caused by mutation in the structural maintenance of chromosomes flexible hinge domain-containing
protein-1 gene (SMCHD1, 614982.0007);