" /> Schneckenbecken dysplasia - CISMeF





Preferred Label : Schneckenbecken dysplasia;

Symbol : SHNKND;

CISMeF acronym : SHNKND;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Chondrodysplasia, lethal neonatal, with snail-like pelvis;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the solute carrier family 35, member D1 gene (SLC25D1, 610804.0001);

Prefixed ID : #269250;

Détails


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27/07/2025


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