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Summary Literature (0)
DOID:0112379 - muscular dystrophy-dystroglycanopathy type B4

Disease Ontology Definition:A muscular dystrophy-dystroglycanopathy type B characterized by muscular dystropy resulting from impaired glycosylation of dystroglycan in the absence of intellectual impairment that has_material_basis_in homozygous or compound heterozygous mutation in the FKTN gene on chromosome 9q31.2.

Synonyms: MDDGB4, congenital muscular dystrophy FKTN-related,

Xenbase Genes : fktn



Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): autosomal recessive disease (is_a), muscular dystrophy-dystroglycanopathy type B (is_a)