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ID | DOID:0050559 |
Name | Fukuyama congenital muscular dystrophy |
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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DO_rare_slim |
Parent Relationships |
is_a congenital muscular dystrophy-dystroglycanopathy type A |