Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the SLC18A3 gene.
Comprehensive, easy-to-understand information about this condition
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congenital myasthenic syndrome with tubular aggregates
MONDO:0000182
myasthenia, congenital, refractory to acetylcholinesterase inhibitors
MONDO:0009687
congenital myasthenic syndrome 6
MONDO:0009689
congenital myasthenic syndrome 5
MONDO:0011281
congenital myasthenic syndrome 7
MONDO:0014468
congenital myasthenic syndrome 15
MONDO:0014542