Term Name:	congenital myasthenic syndrome 11
Synonyms:	CMS Ie, CMS11, CMS1E, congenital myasthenic syndrome 11 associated with acetylcholine receptor deficiency, congenital myasthenic syndrome 1e
Definition:	A congenital myasthenic syndrome characterized by autosomal recessive inheritance of low amplitude of the miniature endplate potential and current resulting from deficiency of Acetylcholine Receptor (AChR) at the endplate that has_material_basis_in homozygous or compound heterozygous mutation in the RAPSN gene on chromosome 11p11.
Ontology:	Human Disease [DOID:0110675]   ( DOID:0110675 )