|OBO ID: DOID:0110669|
|Term Name:||congenital myasthenic syndrome 14||Search Ontology:|
|Definition:||A congenital myasthenic syndrome characterized by autosomal recessive inheritance of slowly progressive development of limb-girdle muscle weakness with onset in early childhood that has_material_basis_in homozygous mutation in the ALG2 gene on chromosome 9q22. (2)|
|Ontology:||Human Disease (DOID:0110669)|
|is a type of:||
OTHER congenital myasthenic syndrome 14 PAGES
ZEBRAFISH MODELS No data available
PHENOTYPE No data available
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