Congenital myasthenic syndrome 14

Definition

Any congenital myasthenic syndromes with glycosylation defect in which the cause of the disease is a mutation in the ALG2 gene.

Also known as ALG2 congenital myasthenic syndromes with glycosylation defect, CMS14, CMSTA3, congenital myasthenic syndrome 14, congenital myasthenic syndrome type 14, congenital myasthenic syndromes with glycosylation defect caused by mutation in ALG2, myasthenic syndrome, congenital, 14, with tubular aggregates, myasthenic syndrome, congenital, type 14 — per MONDO

Also identified as

• DOID 0110669 per MONDO
• OMIM 616228 per MONDO
• UMLS C4015597 per MONDO