" /> Weill-marchesani syndrome 3 - CISMeF





Preferred Label : Weill-marchesani syndrome 3;

Symbol : WMS3;

CISMeF acronym : WMS3;

Type : Phenotype, molecular basis known;

Description : Weill-Marchesani syndrome is a rare connective tissue disorder characterized by short stature, brachydactyly, joint stiffness, and lens abnormalities (Faivre et al., 2002). For a general phenotypic description and a discussion of genetic heterogeneity of WMS, see 277600.;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the latent transforming growth factor-beta-binding protein 2 gene (LTBP2, 602091.0012);

Prefixed ID : #614819;

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31/07/2025


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