has material basis in germline mutation in CHRNB1 congenital myasthenic syndrome 2A https://github.com/monarch-initiative/mondo/issues/4069 https://www.malacards.org/card/myasthenic_syndrome_congenital_2a_slow_channel slow channel congenital myasthenic syndrome DOID:0110681 congenital myasthenic syndrome type 2A A congenital myasthenic syndrome characterized by autosomal dominant inheritance of postsynaptic neuromuscular junction defects, early-onset progressive muscle weakness, and prolonged opening and activity of the acetylcholine receptor channel that has material basis in heterozygous mutation in the CHRNB1 gene on chromosome 17p13. myasthenic syndrome, congenital, type IIa MONDO:0014581 SCCMS myasthenic syndrome, congenital, 2A, slow-channel myasthenic syndrome, congenital, slow-channel MEDGEN:908185 GARD:0009895 UMLS:C4225374 myasthenic syndrome, congenital, postsynaptic slow-channel CMS IIa OMIM:616313 CMS2A postsynaptic congenital myasthenic syndrome