Term Name: | Fukuyama congenital muscular dystrophy |
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Synonyms: | |
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. |
Ontology: | Human Disease [DOID:0050559] ( DOID:0050559 ) |