" /> Brachydactyly, type a2 - CISMeF





Preferred Label : Brachydactyly, type a2;

Symbol : BDA2;

CISMeF acronym : BDA2;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Mohr-wriedt type brachydactyly; Brachymesophalangy II;

Description : Brachydactyly type A2 is an autosomal dominant disorder characterized by malformations of the middle phalanx of the index finger and by anomalies of the second toe (summary by Su et al., 2011).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the growth/differentiation factor 5 gene (GD5, 601146.0005); Caused by mutation in the bone morphogenetic protein 2 gene (BMP2, 112261.0001); Caused by mutation in the bone morphogenetic protein receptor, type 1B gene (BMPR1B, 603248.0001);

Prefixed ID : #112600;

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25/07/2025


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