" /> Epiphyseal dysplasia, multiple, 3 - CISMeF





Preferred Label : Epiphyseal dysplasia, multiple, 3;

Symbol : EDM3;

CISMeF acronym : EDM3;

Type : Phenotype, molecular basis known;

Included titles and symbols : Epiphyseal dysplasia, multiple, 3, with myopathy;

Description : Multiple epiphyseal dysplasia is characterized by early-onset short stature, waddling gait, and stiffness and/or pain in the knees and sometimes other joints (Muragaki et al., 1996). For a general phenotypic description and a discussion of genetic heterogeneity of multiple epiphyseal dysplasia, see EDM1 (132400).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the collagen IX, alpha-3 polypeptide gene (COL9A3, 120270.0001);

Laboratory abnormalities : Mildly elevated creatine phosphokinase (CPK) (120270.0002);

Prefixed ID : #600969;

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29/07/2025


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