congenital myasthenic syndrome 21
Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the SLC18A3 gene.
MONDO:0700466
presynaptic congenital myasthenic syndrome
is_a
CMS21
exact
SLC18A3 congenital myasthenic syndrome
exact
congenital myasthenic syndrome caused by mutation in SLC18A3
exact
congenital myasthenic syndrome type 21
exact
myasthenic syndrome, congenital, 21, presynaptic
exact