" /> Myasthenic syndrome, congenital, 3c, associated with acetylcholine receptor deficiency - CISMeF





Preferred Label : Myasthenic syndrome, congenital, 3c, associated with acetylcholine receptor deficiency;

Symbol : CMS3C;

CISMeF acronym : CMS3C;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the cholinergic receptor, nicotinic, delta polypeptide gene (CHRND, 100720.0010);

Prefixed ID : #616323;

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04/05/2025


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