Fukuyama congenital muscular dystrophy

Term ID

DOID:0050559

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. https://ghr.nlm.nih.gov/condition/fukuyama-congenital-muscular-dystrophy

References

• GARD:6475
• MIM:253800
• ORDO:272

Ontology

Human Disease   ( DOID:0050559 )