Term Name: | congenital myasthenic syndrome 4C |
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Synonyms: | CMS Id, CMS1D, CMS4C, congenital myasthenic syndrome 4C associated with acetylcholine receptor deficiency, congenital myasthenic syndrome type Id, FIM1 |
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. |
Ontology: | Human Disease [DOID:0110679] ( DOID:0110679 ) |