Also known as: CMS12, GFPT1 congenital myasthenic syndromes with glycosylation defect, congenital myasthenia 12 with tubular aggregates, congenital myasthenic syndrome type 12, congenital myasthenic syndromes with glycosylation defect caused by mutation in GFPT1, myasthenia, congenital, 12, with tubular aggregates, myasthenic syndrome, congenital, 12, myasthenic syndrome, congenital, type 12, myasthenic syndrome, congenital, with tubular aggregates 1
Also known as: CMS13, CMSTA2, DPAGT1 congenital myasthenic syndromes with glycosylation defect, congenital myasthenic syndrome 13 with tubular aggregates, congenital myasthenic syndrome type 13, congenital myasthenic syndrome with tubular aggregates 2, congenital myasthenic syndromes with glycosylation defect caused by mutation in DPAGT1, myasthenic syndrome, congenital, 13, myasthenic syndrome, congenital, 13, with tubular aggregates, myasthenic syndrome, congenital, type 13, myasthenic syndrome, congenital, with tubular aggregates 2
Also known as: ALG2 congenital myasthenic syndromes with glycosylation defect, CMS14, CMSTA3, congenital myasthenic syndrome 14, congenital myasthenic syndrome 14, with tubular aggregates, congenital myasthenic syndrome type 14, congenital myasthenic syndrome with tubular aggregates 3, congenital myasthenic syndromes with glycosylation defect caused by mutation in ALG2, myasthenic syndrome, congenital, 14, myasthenic syndrome, congenital, 14, with tubular aggregates, myasthenic syndrome, congenital, type 14, myasthenic syndrome, congenital, with tubular aggregates 3
Also known as: ALG14 congenital myasthenic syndrome, CMS15, congenital myasthenic syndrome 15 without tubular aggregates, congenital myasthenic syndrome caused by mutation in ALG14, congenital myasthenic syndrome type 15, myasthenic syndrome, congenital, 15, myasthenic syndrome, congenital, 15, without tubular aggregates, myasthenic syndrome, congenital, type 15, myasthenic syndrome, congenital, without tubular aggregates
Also known as: CMS16, SCN4A congenital myasthenic syndrome, congenital myasthenic syndrome acetazolamide-responsive, congenital myasthenic syndrome caused by mutation in SCN4A, congenital myasthenic syndrome type 16, myasthenic syndrome, congenital, 16, myasthenic syndrome, congenital, Acetazolamide-responsive, myasthenic syndrome, congenital, type 16
Also known as: CMS17, LRP4 congenital myasthenic syndrome, congenital myasthenic syndrome caused by mutation in LRP4, congenital myasthenic syndrome type 17, myasthenic syndrome, congenital, 17, myasthenic syndrome, congenital, type 17
Also known as: CMS18, SNAP25 congenital myasthenic syndrome, SNAP25-DEE, congenital myasthenic syndrome caused by mutation in SNAP25, congenital myasthenic syndrome type 18, myasthenic syndrome, congenital, 18, myasthenic syndrome, congenital, 18, with intellectual disability and ataxia, myasthenic syndrome, congenital, type 18
Also known as: CMS19, COL13A1 congenital myasthenic syndrome, congenital myasthenic syndrome caused by mutation in COL13A1, congenital myasthenic syndrome type 19, myasthenic syndrome, congenital, 19, myasthenic syndrome, congenital, type 19
Also known as: CHRNA1 congenital myasthenic syndrome, CMS IIa, CMS1A, Cms IIa, Cms IIa, formerly, congenital myasthenic syndrome 1A, slow-channel, congenital myasthenic syndrome caused by mutation in CHRNA1, congenital myasthenic syndrome type 1A, congenital myasthenic syndrome type IIa, myasthenic syndrome, congenital, 1A, slow-channel, myasthenic syndrome, congenital, type IIa, myasthenic syndrome, congenital, type IIa, formerly
Also known as: CMS20, SLC5A7 congenital myasthenic syndrome, congenital myasthenic syndrome 20 presynaptic, congenital myasthenic syndrome caused by mutation in SLC5A7, congenital myasthenic syndrome type 20, myasthenic syndrome, congenital, 20, presynaptic
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