|OBO ID: DOID:0110675|
|Term Name:||congenital myasthenic syndrome 11||Search Ontology:|
|Definition:||A congenital myasthenic syndrome characterized by autosomal recessive inheritance of low amplitude of the miniature endplate potential and current resulting from deficiency of AChR at the endplate that has_material_basis_in homozygous or compound heterozygous mutation in the RAPSN gene on chromosome 11p11. (2)|
|Ontology:||Human Disease (DOID:0110675)|
|is a type of:||
OTHER congenital myasthenic syndrome 11 PAGES
ZEBRAFISH MODELS No data available
PHENOTYPE No data available
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