|OBO ID: DOID:0110664|
|Term Name:||congenital myasthenic syndrome 3C||Search Ontology:|
|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. https://www.ncbi.nlm.nih.gov/pubmed/16916845|
|Ontology:||Human Disease (DOID:0110664)|
|is a type of:||
OTHER congenital myasthenic syndrome 3C PAGES
ZEBRAFISH MODELS No data available
PHENOTYPE No data available
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