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Metadata
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
Xrefs

GARD:6475

MIM:253800

ORDO:272

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DO_rare_slim

Parent Relationships

is_a congenital muscular dystrophy-dystroglycanopathy type A

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