|OBO ID: DOID:0110665|
|Term Name:||congenital myasthenic syndrome 3B||Search Ontology:|
|Definition:||A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects resulting in rapid decay in endplate current and a failure to reach the threshold for depolarization and early onset progressive muscular weakness that has_material_basis_in homozygous or compound heterozygous mutation in the CHRND gene on chromosome 2q37. (2)|
|Ontology:||Human Disease (DOID:0110665)|
|is a type of:||
OTHER congenital myasthenic syndrome 3B PAGES
ZEBRAFISH MODELS No data available
PHENOTYPE No data available
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