congenital myasthenic syndrome 18
Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the SNAP25 gene.
MONDO:0002320
congenital nervous system disorder
is_a
MONDO:0700466
presynaptic congenital myasthenic syndrome
is_a
CMS18
exact
SNAP25 congenital myasthenic syndrome
exact
SNAP25-DEE
exact
congenital myasthenic syndrome caused by mutation in SNAP25
exact
congenital myasthenic syndrome type 18
exact
myasthenic syndrome, congenital, 18
exact
myasthenic syndrome, congenital, 18, with intellectual disability and ataxia
exact
myasthenic syndrome, congenital, type 18
exact
SPBC26H8.02c