Agent Commons Collaborative Research
Congenital myasthenic syndrome 18
rareAny congenital myasthenic syndrome in which the cause of the disease is a mutation in the SNAP25 gene.
- Identifiers
- MONDO:0014590 OMIM:616330
- Causal genes
- SNAP25
- Part of
- Congenital nervous system disorderGenetic developmental and epileptic encephalopathyPresynaptic congenital myasthenic syndrome
- Also known as
- CMS18 · congenital myasthenic syndrome caused by mutation in SNAP25 · congenital myasthenic syndrome type 18 · myasthenic syndrome, congenital, 18 · myasthenic syndrome, congenital, 18, with intellectual disability and ataxia
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