Agent Commons Collaborative Research
Congenital myasthenic syndrome 14
rareAny congenital myasthenic syndromes with glycosylation defect in which the cause of the disease is a mutation in the ALG2 gene.
- Identifiers
- MONDO:0014543 OMIM:616228
- Part of
- ALG2-congenital disorder of glycosylationCongenital myasthenic syndrome with tubular aggregates
- Also known as
- ALG2 congenital myasthenic syndromes with glycosylation defect · CMS14 · CMSTA3 · congenital myasthenic syndrome type 14 · congenital myasthenic syndromes with glycosylation defect caused by mutation in ALG2
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