congenital myasthenic syndrome 4A https://github.com/monarch-initiative/mondo/issues/4069 https://www.malacards.org/card/myasthenic_syndrome_congenital_4a_slow_channel A congenital myasthenic syndrome characterized by 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 or rarely biallelic mutation in the CHRNE gene on chromosome 17p13. Cms Ia1 congenital myasthenic syndrome type 4A MEDGEN:908188 CMS4A GARD:0015387 DOID:0110678 congenital myasthenic syndrome type Ia1 myasthenic syndrome, congenital, 4A, slow-channel MONDO:0011600 OMIM:605809 UMLS:C4225413 congenital myasthenic syndrome 4