|OBO ID: DOID:0110660|
|Term Name:||congenital myasthenic syndrome 12||Search Ontology:|
|Definition:||A congenital myasthenic syndrome characterized by autosomal recessive inheritance of onset of proximal muscle weakness in the first decade that generally responds well to acetylcholinesterase inhibitor treatment that has_material_basis_in homozygous or compound heterozygous mutation in the GFPT1 gene on chromosome 2p13. (2)|
|Ontology:||Human Disease (DOID:0110660)|
|is a type of:||
OTHER congenital myasthenic syndrome 12 PAGES
ZEBRAFISH MODELS No data available
PHENOTYPE No data available
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