Congenital myasthenic syndrome 13

Definition

Any congenital myasthenic syndromes with glycosylation defect in which the cause of the disease is a mutation in the DPAGT1 gene.

Also known as CMS13, CMSTA2, congenital myasthenic syndrome type 13, congenital myasthenic syndromes with glycosylation defect caused by mutation in DPAGT1, DPAGT1 congenital myasthenic syndromes with glycosylation defect, myasthenic syndrome, congenital, 13, with tubular aggregates, myasthenic syndrome, congenital, type 13 — per MONDO

Also identified as

• DOID 0110676 per MONDO
• OMIM 614750 per MONDO
• UMLS C3553645 per MONDO