|OBO ID: DOID:0110673|
|Term Name:||congenital myasthenic syndrome 19||Search Ontology:|
|Definition:||A congenital myasthenic syndrome characterized by autosomal recessive inheritance of defects in the neuromuscular junction resulting in generalized muscle weakness, exercise intolerance, and respiratory insufficiency that has_material_basis_in homozygous mutation in the COL13A1 gene on chromosome 10q22. https://www.ncbi.nlm.nih.gov/pubmed/26626625|
|Ontology:||Human Disease (DOID:0110673)|
|is a type of:||
OTHER congenital myasthenic syndrome 19 PAGES
ZEBRAFISH MODELS No data available
PHENOTYPE No data available
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