OBO ID: DOID:0050559 |
Term Name: | Fukuyama congenital muscular dystrophy | Search Ontology: | |
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Definition: | A congenital muscular dystrophy-dystroglycanopathy type A that is characterized by muscle weakness, failure to thrive, severe intellectual and developmental disability, impaired vision and cardiac abnormalities and has_material_basis_in mutation in the FKTN gene that produces the fukutin protein. https://ghr.nlm.nih.gov/condition/fukuyama-congenital-muscular-dystrophy | ||
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Ontology: | Human Disease ( DOID:0050559 ) |
OTHER Fukuyama congenital muscular dystrophy PAGES
ZEBRAFISH MODELS
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PHENOTYPE
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CITATIONS: None
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