" /> Bosma arhinia microphthalmia syndrome - CISMeF





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);

Prefixed ID : #603457;

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29/07/2025


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