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Summary Literature (0)
DOID:0110682 - congenital myasthenic syndrome 16


Disease Ontology Definition:A congenital myasthenic syndrome that has_material_basis_in heterozygous or homozygous mutation in the SCN4A gene on chromosome 17q23

Synonyms: CMS16, congenital myasthenic syndrome acetazolamide-responsive


In Mondo Disease Ontology:
MONDO:0013620 - congenital myasthenic syndrome 16

Human Disease Resources: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Xenbase Genes : scn4a

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Parent(s): congenital myasthenic syndrome (is_a)