" /> Cardiospondylocarpofacial syndrome - CISMeF





Preferred Label : Cardiospondylocarpofacial syndrome;

Symbol : CSCF;

CISMeF acronym : CSCF;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Mitral regurgitation, conductive deafness, and fusion of cervical vertebrae and of carpal and tarsal bones;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the mitogen-activated protein kinase kinase kinase-7 gene (MAP3K7, 602614.0005);

Prefixed ID : #157800;

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03/05/2025


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