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Summary Literature (0)
MIM:608931 - MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY; CMS4C

Xenbase Genes: rapsn, chrne, musk, chrnb1, gfpt1

Human Disease Resource: MIM

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0012157 - congenital myasthenic syndrome 4C
MONDO:0018940 - congenital myasthenic syndrome
MONDO:0020344 - postsynaptic congenital myasthenic syndrome

Disease Ontology (DO):
DOID:0110679 - congenital myasthenic syndrome 4C