" /> 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;

Details


You can consult :


Nous contacter.
01/05/2025


[Home] [Top]

© Rouen University Hospital. Any partial or total use of this material must mention the source.