Congenital myasthenic syndrome 18
MONDO:0014590Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the SNAP25 gene.
Also known as: CMS18, SNAP25 congenital myasthenic syndrome, SNAP25-DEE, 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, myasthenic syndrome, congenital, type 18
1 clinical trial for this condition and its sub-types.
Follow this condition — get notified about new trials