" /> Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type b, 14 - CISMeF





Preferred Label : Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type b, 14;

Symbol : MDDGB14;

CISMeF acronym : MDDGB14;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Muscular dystrophy, congenital, gmppb-related;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the GDP-mannose pyrophosphorylase B gene (GMPPB, 615320.0004);

Laboratory abnormalities : Increased serum creatine kinase;

Prefixed ID : #615351;

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28/07/2025


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