" /> Acromesomelic dysplasia 2b - CISMeF





Preferred Label : Acromesomelic dysplasia 2b;

Symbol : AMD2B;

CISMeF acronym : DUPANS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Fibular hypoplasia and complex brachydactyly; Du pan syndrome; DUPANS;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutations in the cartilage-derived morphogenetic protein-1 gene (CDMP1, 601146.0005);

Prefixed ID : #228900;

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25/07/2025


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