|OBO ID: DOID:0110668|
|Term Name:||congenital myasthenic syndrome 10||Search Ontology:|
|Definition:||A congenital myasthenic syndrome characterized by autosomal inheritance of a postsynaptic defect affecting endplate maintenance of the NMJ and development of limb-girdle weakness in the first decade of life that has_material_basis_in homozygous or compound heterozygous mutation in the DOK7 gene on chromosome 4p. (2)|
|Ontology:||Human Disease (DOID:0110668)|
|is a type of:||
OTHER congenital myasthenic syndrome 10 PAGES
ZEBRAFISH MODELS No data available
PHENOTYPE No data available
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