congenital myasthenic syndrome 11 (DOID:0110675)
Alliance: disease page
Synonyms: CMS1E; CMS11; CMS Ie; congenital myasthenic syndrome 1e; congenital myasthenic syndrome 11 associated with acetylcholine receptor deficiency
Alt IDs: OMIM:616326
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.