Term Name: congenital myasthenic syndrome 16
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 )

Relationships
is a type of: autosomal recessive disease congenital myasthenic syndrome