Term Name: | congenital myasthenic syndrome 16 |
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Synonyms: | CMS16, congenital myasthenic syndrome acetazolamide-responsive |
Definition: | A congenital myasthenic syndrome that has_material_basis_in heterozygous or homozygous mutation in the SCN4A gene on chromosome 17q23. |
Ontology: | Human Disease [DOID:0110682] ( DOID:0110682 ) |