congenital myasthenic syndrome 4C (DOID:0110679)
Alliance: disease page
Synonyms: CMS1D; CMS4C; CMS Id; congenital myasthenic syndrome 4C associated with acetylcholine receptor deficiency; congenital myasthenic syndrome type Id; familial infantile myasthenia 1; FIM1
Alt IDs: OMIM:608931
Definition: 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.