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| Term | congenital myasthenic syndrome 4C | ID (Ontology) | DOID:0110679 (Human Disease) |
| 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. | ||
| Also Known As | "CMS Id" ; "CMS1D" ; "CMS4C" (for all, see Synonyms field below) | ||
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| Records annotated with this term OR any of its CHILD TERMS | |||
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autosomal genetic disease |__autosomal recessive disease_____ physical disorder | |__congenital myasthenic syndrome__| neuromuscular junction disease | |__congenital myasthenic syndrome__| congenital myasthenic syndrome 4C |
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autosomal recessive disease congenital myasthenic syndrome |
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| MIM:608931 | |||