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Metadata
ID	DOID:0110683
Name	congenital myasthenic syndrome 18
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. https://www.ncbi.nlm.nih.gov/pubmed/25381298
Xrefs	OMIM:616330
Synonyms	CMS18 [EXACT]
Parent Relationships	is_a congenital myasthenic syndrome is_a autosomal dominant disease