congenital myasthenic syndrome with tubular aggregates
A congenital myasthenic syndrome with a finding of tubular aggregates in myofibers.
MONDO:0002320
congenital nervous system disorder
is_a
MONDO:0018940
congenital myasthenic syndrome
is_a
CMS-TA
exact
myasthenic syndrome, congenital, with tubular aggregates
exact
SPBC11B10.01 SPBC12C2.11 SPBC15D4.04