Term Name: | muscular dystrophy-dystroglycanopathy type B1 |
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Synonyms: | CMD due to dystroglycanopathy, Muscular dystrophy-dystroglycanopathy congenital with impaired intellectual development B1 |
Definition: | A congenital muscular dystrophy characterized by muscle weakness, cognitive impairment and brain abnormalities and has_material_basis_in mutation to the POMT1 gene that encodes O-mannosyltransferase. |
Ontology: | Human Disease [DOID:0050588] ( DOID:0050588 ) |