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Disease Ontology Browser
muscular dystrophy-dystroglycanopathy type B4 (DOID:0112379)
Alliance: disease page
Synonyms: congenital muscular dystrophy FKTN-related; MDDGB4
Alt IDs: OMIM:613152
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.

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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Send questions and comments to User Support. 		last database update
12/10/2024
MGI 6.24 		The Jackson Laboratory