|OBO ID: DOID:0110678|
|Term Name:||congenital myasthenic syndrome 4A||Search Ontology:|
|Definition:||A congenital myasthenic syndrome characterized by postsynaptic neuromuscular junction defects, early-onset progressive muscle weakness, and prolonged opening and activity of the acetylcholine receptor channel that has_material_basis_in heterozygous or rarely biallelic mutation in the CHRNE gene on chromosome 17p13. (3)|
|Ontology:||Human Disease (DOID:0110678)|
|is a type of:||
OTHER congenital myasthenic syndrome 4A PAGES
ZEBRAFISH MODELS No data available
PHENOTYPE No data available
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