congenital myasthenic syndrome 4C https://github.com/monarch-initiative/mondo/issues/4069 https://www.malacards.org/card/myasthenic_syndrome_congenital_4c_associated_with_acetylcholine_receptor_deficiency MEDGEN:373251 DOID:0110679 MONDO:0012157 myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency myasthenia, familial infantile, 1 congenital myasthenic syndrome type 4C GARD:0010108 OMIM:608931 A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects, early-onset muscle weakness, and low amplitude of the miniature endplate potential and current that has material basis in homozygous or compound heterozygous mutation in the CHRNE gene on chromosome 17p13. UMLS:C1837091 congenital myasthenic syndrome associated with acetylcholine receptor deficiency CMS4C Cms Id congenital myasthenic syndrome 4