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GTR Home > Conditions/Phenotypes > Congenital myasthenic syndrome 21

Congenital myasthenic syndrome 21

Synonyms
Myasthenic syndrome, congenital, 21, presynaptic

Summary

Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the SLC18A3 gene. [from MONDO]

Available tests

16 tests are in the database for this condition.

Clinical tests (16 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CMS21, VACHT, SLC18A3
    Summary: solute carrier family 18 member A3

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

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