| Metadata | |
|---|---|
| ID | DOID:0050588 |
| Name | muscular dystrophy-dystroglycanopathy type 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. https://www.omim.org/entry/613155 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
CMD due to dystroglycanopathy [EXACT] Muscular dystrophy-dystroglycanopathy congenital with impaired intellectual development B1 [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance has symptom some muscle weakness |