Term Name: | muscular dystrophy-dystroglycanopathy type B4 |
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Synonyms: | congenital muscular dystrophy FKTN-related, MDDGB4 |
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. |
Ontology: | Human Disease [DOID:0112379] ( DOID:0112379 ) |