" /> Ehlers-danlos syndrome, spondylodysplastic type, 3 - CISMeF





Preferred Label : Ehlers-danlos syndrome, spondylodysplastic type, 3;

Symbol : EDSSPD3;

CISMeF acronym : EDSSPD3; SCD-EDS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : SCD-EDS; Spondylocheirodysplasia, ehlers-danlos syndrome-like;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the solute carrier family 39 (zinc transporter), member 13 gene (SLC39A13, 608735.0001);

Laboratory abnormalities : Lysyl pyridinoline/hydroxylysyl pyridinoline (LP/HP) ratio approximately 1; Normal lysyl hydroxylase activity; Normal prolyl 4-hydroxylase activity;

Prefixed ID : #612350;

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29/07/2025


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