Term Name:	congenital myasthenic syndrome 18
Synonyms:	CMS18
Definition:	A congenital myasthenic syndrome characterized by autosomal dominant inheritance of presynaptic neuromuscular junction defects, early-onset muscle weakness, easy fatigability, delayed psychomotor development and ataxia that has_material_basis_in heterozygous mutation in the SNAP25 gene on chromosome 20p11.
Ontology:	Human Disease [DOID:0110683]   ( DOID:0110683 )