congenital myasthenic syndrome 20
Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the SLC5A7 gene.
MONDO:0700466
presynaptic congenital myasthenic syndrome
is_a
CMS20
exact
SLC5A7 congenital myasthenic syndrome
exact
congenital myasthenic syndrome caused by mutation in SLC5A7
exact
congenital myasthenic syndrome type 20
exact
myasthenic syndrome, congenital, 20, presynaptic
exact