OBO ID: DOID:0110657 |
Term Name: | congenital myasthenic syndrome 8 | Search Ontology: | |
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Definition: | A congenital myasthenic syndrome characterized by autosomal recessive inheritance of prominent defects of both the pre- and postsynaptic regions and muscle weakness that has_material_basis_in homozygous or compound heterozygous mutation in the AGRN gene on chromosome 1p. (2) | ||
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Ontology: | Human Disease ( DOID:0110657 ) |
OTHER congenital myasthenic syndrome 8 PAGES
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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