OBO ID: DOID:0110669 |
Term Name: | congenital myasthenic syndrome 14 | Search Ontology: | |
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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) | ||
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Ontology: | Human Disease ( DOID:0110669 ) |
OTHER congenital myasthenic syndrome 14 PAGES
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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