" /> Reducing body myopathy, X-linked 1a, severe, with infantile or early childhood onset - CISMeF





Preferred Label : Reducing body myopathy, X-linked 1a, severe, with infantile or early childhood onset;

Symbol : RBMX1A;

CISMeF acronym : RBMX1A;

Type : Phenotype, molecular basis known;

Inheritance : X-linked dominant;

Molecular basis : Caused by mutation in the four-and-a-half LIM domains 1 gene ().;

Laboratory abnormalities : Increased serum creatine kinase;

Prefixed ID : #300717;

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29/07/2025


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