1 Child Term
| Identifier | Name | Description |
|---|---|---|
| DOID:0112381 | muscular dystrophy-dystroglycanopathy type C12 | A muscular dystrophy-dystroglycanopathy characterized by limb-girdle congenital muscular dystrophy and cognitive impairment that has_material_basis_in homozygous or compound heterozygous mutation in the POMK gene on chromosome 8p11.21. |
1 Parent Term
| Identifier | Name | Description |
|---|---|---|
| DOID:0112374 | muscular dystrophy-dystroglycanopathy | A congenital muscular dystrophy characterized by muscular dystrophy resulting from defective glycosylation of dystroglycan. |
