congenital myasthenic syndrome 19
Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the COL13A1 gene.
MONDO:0020344
postsynaptic congenital myasthenic syndrome
is_a
MONDO:0700466
presynaptic congenital myasthenic syndrome
is_a
CMS19
exact
COL13A1 congenital myasthenic syndrome
exact
congenital myasthenic syndrome caused by mutation in COL13A1
exact
congenital myasthenic syndrome type 19
exact
myasthenic syndrome, congenital, 19
exact
myasthenic syndrome, congenital, type 19
exact