|OBO ID: DOID:0110677|
|Term Name:||congenital myasthenic syndrome 4B||Search Ontology:|
|Definition:||A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects, early-onset progressive muscle weakness, and kinetic abnormalities of the AChR channel that has_material_basis_in homozygous or compound heterozygous mutation in the CHRNE gene on chromosome 17p13. (2)|
|Ontology:||Human Disease (DOID:0110677)|
|is a type of:||
OTHER congenital myasthenic syndrome 4B PAGES
ZEBRAFISH MODELS No data available
PHENOTYPE No data available
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