| Disease ID | Source | Name | Description |
| 608840 | OMIM | Muscular dystrophy-dystroglycanopathy congenital with mental retardation B6 (MDDGB6) | A congenital muscular dystrophy associated with profound mental retardation, white matter changes and structural brain abnormalities. Skeletal muscle biopsies show reduced immunolabeling of alpha-dystroglycan. The disease is caused by variants affecting the gene represented in this entry. |
| 613154 | OMIM | Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A6 (MDDGA6) | An autosomal recessive disorder characterized by congenital muscular dystrophy associated with cobblestone lissencephaly and other brain anomalies, eye malformations, profound mental retardation, and death usually in the first years of life. Included diseases are the more severe Walker-Warburg syndrome and the slightly less severe muscle-eye-brain disease. The disease is caused by variants affecting the gene represented in this entry. |