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GTR Home > Conditions/Phenotypes > Congenital myasthenic syndrome 18

Congenital myasthenic syndrome 18

Synonyms
MYASTHENIC SYNDROME, CONGENITAL, 18, WITH INTELLECTUAL DISABILITY AND ATAXIA

Summary

Congenital myasthenic syndrome-18 (CMS18) is an autosomal dominant presynaptic neuromuscular disorder characterized by early-onset muscle weakness and easy fatigability associated with delayed psychomotor development and ataxia (summary by Shen et al., 2014). For a discussion of genetic heterogeneity of CMS, see CMS1A (601462). [from OMIM]

Available tests

18 tests are in the database for this condition.

Clinical tests (18 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CMS18, RIC-4, RIC4, SEC9, SNAP, SNAP-25, SUP, bA416N4.2, dJ1068F16.2, SNAP25
    Summary: synaptosome associated protein 25

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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