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| Term | congenital myasthenic syndrome 5 | ID (Ontology) | DOID:0110667 (Human Disease) |
| Definition | A congenital myasthenic syndrome characterized by autosomal recessive inheritance of a defect within the synapse at the neuromuscular junction resulting in prolonged synaptic currents and action potentials that has_material_basis_in homozygous or compound heterozygous mutation in the COLQ gene on chromosome 3p25. | ||
| Also Known As | "CMS Ic" ; "CMS5" ; "congenital myasthenic syndrome Engel type" (for all, see Synonyms field below) | ||
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autosomal genetic disease |__autosomal recessive disease_____ physical disorder | |__congenital myasthenic syndrome__| neuromuscular junction disease | |__congenital myasthenic syndrome__| congenital myasthenic syndrome 5 |
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autosomal recessive disease congenital myasthenic syndrome |
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| MIM:603034 | |||