| Disease ID | Source | Name | Description |
| 613150 | OMIM | Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A2 (MDDGA2) | 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. |
| 613156 | OMIM | Muscular dystrophy-dystroglycanopathy congenital with mental retardation B2 (MDDGB2) | An autosomal recessive disorder characterized by congenital muscular dystrophy associated with mental retardation and mild structural brain abnormalities. The disease is caused by variants affecting the gene represented in this entry. |
| 613158 | OMIM | Muscular dystrophy-dystroglycanopathy limb-girdle C2 (MDDGC2) | An autosomal recessive muscular dystrophy with onset after ambulation is achieved. MDDGC2 is characterized by increased serum creatine kinase and mild muscle weakness. Muscle biopsy shows dystrophic changes, inflammatory changes, and severely decreased alpha-dystroglycan. Cognition is normal. The disease is caused by variants affecting the gene represented in this entry. |