FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term congenital myasthenic syndrome 18 ID (Ontology) DOID:0110683 (Human Disease)
Definition A congenital myasthenic syndrome characterized by autosomal dominant inheritance of presynaptic neuromuscular junction defects, early-onset muscle weakness, easy fatigability, delayed psychomotor development and ataxia that has_material_basis_in heterozygous mutation in the SNAP25 gene on chromosome 20p11.
Also Known As "CMS18" ; "DEE117" ; "developmental and epileptic encephalopathy 117"
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 Genes
 congenital myasthenic syndrome 18       2
 for disease ribbon | congenital myasthenic syndrome 18       2
 model of | congenital myasthenic syndrome 18       2
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal dominant disease______
physical disorder                   |
 |__congenital myasthenic syndrome__|
neuromuscular junction disease      |
 |__congenital myasthenic syndrome__|
                                    congenital myasthenic syndrome 18  2 rec.
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Is a autosomal dominant disease
congenital myasthenic syndrome
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Synonyms
  • "CMS18" EXACT OMO:0003012
    "DEE117" EXACT OMO:0003012
    "developmental and epileptic encephalopathy 117" EXACT
Secondary IDs
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MIM:616330