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congenital myasthenic syndrome 15 | RareConnect | RareConnect.io

/congenital nervous system disorder

/congenital myasthenic syndrome

/ALG14-congenital disorder of glycosylation

/congenital myasthenic syndrome 15

congenital myasthenic syndrome 15

Rare Disease

MONDO:0014542

Also Known As

ALG14 congenital myasthenic syndromeCMS15congenital myasthenic syndrome 15 without tubular aggregatescongenital myasthenic syndrome caused by mutation in ALG14congenital myasthenic syndrome type 15myasthenic syndrome, congenital, 15, without tubular aggregatesmyasthenic syndrome, congenital, type 15myasthenic syndrome, congenital, 15myasthenic syndrome, congenital, without tubular aggregates

Definition

Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the ALG14 gene.

Patient-Friendly Information

Comprehensive, easy-to-understand information about this condition

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Associated Genes

Gene data from MyGene.info • Click to view on NCBI Gene

External Resources

OMIM

OMIM:616227 ↗

GARD

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