congenital myasthenic syndrome 14
Any congenital myasthenic syndromes with glycosylation defect in which the cause of the disease is a mutation in the ALG2 gene.
MONDO:0000182
congenital myasthenic syndrome with tubular aggregates
is_a
MONDO:0011933
ALG2-congenital disorder of glycosylation
is_a
ALG2 congenital myasthenic syndromes with glycosylation defect
exact
CMS14
exact
CMSTA3
exact
congenital myasthenic syndrome 14
exact
congenital myasthenic syndrome type 14
exact
congenital myasthenic syndromes with glycosylation defect caused by mutation in ALG2
exact
myasthenic syndrome, congenital, 14
related
myasthenic syndrome, congenital, 14, with tubular aggregates
exact
myasthenic syndrome, congenital, type 14
exact
SPBC11B10.01