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GENATLAS PHENOTYPE

last update : 12-01-2016

Symbol	CMS18
Location	20p12.2
Name	myasthenic syndrome, congenital, 18
Corresponding gene	SNAP25
Main clinical features	presynaptic neuromuscular disorder characterized by early-onset muscle weakness and easy fatigability associated with delayed psychomotor development and ataxia at birth stiffness, respiratory insufficiency, and multiple joint contractures; decreased fetal movements had been noted during pregnancy muscle biopsy showed no morphologic abnormalities, and acetylcholine receptor (AChR) density and acetylcholinesterase (AChE) levels were normal
Genetic determination	autosomal dominant
Function/system disorder	neuromuscular
Type	disease

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