Term Name: Fukuyama congenital muscular dystrophy
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 )

Relationships
is a type of: congenital muscular dystrophy-dystroglycanopathy type A