Congenital myasthenic syndrome 12

Definition

Any congenital myasthenic syndromes with glycosylation defect in which the cause of the disease is a mutation in the GFPT1 gene.

Also known as CMS12, congenital myasthenic syndrome type 12, congenital myasthenic syndromes with glycosylation defect caused by mutation in GFPT1, GFPT1 congenital myasthenic syndromes with glycosylation defect, myasthenia, congenital, 12, with tubular aggregates, myasthenic syndrome, congenital, type 12 — per MONDO

Also identified as

• DOID 0110660 per MONDO
• NCIT C168997 per MONDO
• OMIM 610542 per MONDO
• UMLS C3552335 per MONDO