congenital myasthenic syndrome 16
Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the SCN4A gene.
MONDO:0020344
postsynaptic congenital myasthenic syndrome
is_a
MONDO:0100121
SCN4A-related myopathy, autosomal recessive
is_a
CMS16
exact
SCN4A congenital myasthenic syndrome
exact
congenital myasthenic syndrome caused by mutation in SCN4A
exact
congenital myasthenic syndrome type 16
exact
myasthenic syndrome, congenital, 16
related
myasthenic syndrome, congenital, type 16
exact