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DOID:0050559 - Fukuyama congenital muscular dystrophy
Disease Ontology 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.
Synonyms:
Echinobase Genes
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| MIM:253800 - muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 4; mddga4 |
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
congenital muscular dystrophy-dystroglycanopathy type A (is_a),
congenital muscular dystrophy (is_a)