|OBO ID: DOID:0110670|
|Term Name:||congenital myasthenic syndrome 9||Search Ontology:|
|Definition:||A congenital myasthenic syndrome characterized by autosomal recessive inheritance of defects in postsynaptic neuromuscular junctions, reduced miniature endplate potential amplitude, proximal muscle weakness and episodic respiratory insufficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MUSK gene on chromosome 9q31. (2)|
|Ontology:||Human Disease (DOID:0110670)|
|is a type of:||
OTHER congenital myasthenic syndrome 9 PAGES
ZEBRAFISH MODELS No data available
PHENOTYPE No data available
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