" /> Diastrophic dysplasia - CISMeF





Preferred Label : Diastrophic dysplasia;

Symbol : DTD;

CISMeF acronym : DD; DTD;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : DD;

Included titles and symbols : Diastrophic dysplasia, broad bone-platyspondylic variant;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutations in the solute carrier family 26 (sulfate transporter), member 2 gene (SLC26A2, 606718.0001);

Prefixed ID : #222600;

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27/07/2025


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