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Metadata
ID	DOID:0110682
Name	congenital myasthenic syndrome 16
Definition	A congenital myasthenic syndrome that has_material_basis_in heterozygous or homozygous mutation in the SCN4A gene on chromosome 17q23. https://www.ncbi.nlm.nih.gov/pubmed/12766226
Xrefs	OMIM:614198
Synonyms	CMS16 [EXACT] congenital myasthenic syndrome acetazolamide-responsive [EXACT]
Parent Relationships	is_a congenital myasthenic syndrome is_a autosomal recessive disease