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Summary Literature (0)
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:

Xenbase Genes : fktn

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0009678 - tooth row

MIM:
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)