|OBO ID: DOID:0110657|
|Term Name:||congenital myasthenic syndrome 8||Search Ontology:|
|Definition:||A congenital myasthenic syndrome characterized by autosomal recessive inheritance of prominent defects of both the pre- and postsynaptic regions and muscle weakness that has_material_basis_in homozygous or compound heterozygous mutation in the AGRN gene on chromosome 1p. (2)|
|Ontology:||Human Disease (DOID:0110657)|
|is a type of:||
OTHER congenital myasthenic syndrome 8 PAGES
ZEBRAFISH MODELS No data available
PHENOTYPE No data available
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