" /> Myasthenic syndrome, congenital, 17 - CISMeF





Preferred Label : Myasthenic syndrome, congenital, 17;

Symbol : CMS17;

CISMeF acronym : CMS17;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the low density lipoprotein receptor-related protein 4 gene (LRP4, 604270.0011);

Prefixed ID : #616304;

Details


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11/07/2025


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