|OBO ID: DOID:0110680|
|Term Name:||congenital myasthenic syndrome 2C||Search Ontology:|
|Definition:||A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects, early-onset muscle weakness, and low amplitude of the miniature endplate potential and current that has_material_basis_in ompound heterozygous mutation in the CHRNB1 gene on chromosome 17p13. (2)|
|Ontology:||Human Disease (DOID:0110680)|
|is a type of:||
OTHER congenital myasthenic syndrome 2C PAGES
ZEBRAFISH MODELS No data available
PHENOTYPE No data available
Your Input Welcome
Thank you for submitting comments. Your input has been emailed to ZFIN curators who may contact you if additional information is required.
Oops. Something went wrong. Please try again later.