congenital myasthenic syndrome 20
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
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