Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the COL13A1 gene.
Comprehensive, easy-to-understand information about this condition
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Gene data from MyGene.info • Click to view on NCBI Gene
congenital myasthenic syndrome 10
MONDO:0009690
congenital myasthenic syndrome 1A
MONDO:0011088
congenital myasthenic syndrome 16
MONDO:0013620
congenital myasthenic syndrome 8
MONDO:0014052
congenital myasthenic syndrome 17
MONDO:0014578
congenital myasthenic syndrome 2A
MONDO:0014581