" /> Spondylometaphyseal dysplasia, sedaghatian type - CISMeF





Preferred Label : Spondylometaphyseal dysplasia, sedaghatian type;

Symbol : SMDS;

CISMeF acronym : SMDS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Metaphyseal chondrodysplasia, congenital lethal; Sedaghatian chondrodysplasia;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the glutathione peroxidase-4 gene (GPX4, 138322.0001);

Prefixed ID : #250220;

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27/07/2025


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