" /> Spondyloepimetaphyseal dysplasia, borochowitz-cormier-daire type - CISMeF





Preferred Label : Spondyloepimetaphyseal dysplasia, borochowitz-cormier-daire type;

Symbol : SEMDBCD;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Semd, matn3-related; Spondyloepimetaphyseal dysplasia, matrilin-3 related;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutations in the matrilin 3 gene (MATN3, 602109.0005);

Prefixed ID : #608728;

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27/07/2025


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