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 3C ID (Ontology) DOID:0110664 (Human Disease)
Definition A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects, low amplitude of the miniature endplate potential and current, and early-onset muscle weakness that has_material_basis_in compound heterozygous mutation in the CHRND gene on chromosome 2q37.
Also Known As "congenital myasthenic syndrome 3C associated with acetylcholine receptor deficiency"
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 Genes
 congenital myasthenic syndrome 3C       1
 for disease ribbon | congenital myasthenic syndrome 3C       1
 model of | congenital myasthenic syndrome 3C       1
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autosomal genetic disease
 |__autosomal recessive disease_____
physical disorder                   |
 |__congenital myasthenic syndrome__|
neuromuscular junction disease      |
 |__congenital myasthenic syndrome__|
                                    congenital myasthenic syndrome 3C  1 rec.
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Is a autosomal recessive disease
congenital myasthenic syndrome
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  • "congenital myasthenic syndrome 3C associated with acetylcholine receptor deficiency" EXACT
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MIM:616323