| Disease ID | Source | Name | Description |
| 613155 | OMIM | Muscular dystrophy-dystroglycanopathy congenital with mental retardation B1 (MDDGB1) | 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. |
| 236670 | OMIM | Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A1 (MDDGA1) | 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. |
| 609308 | OMIM | Muscular dystrophy-dystroglycanopathy limb-girdle C1 (MDDGC1) | An autosomal recessive degenerative myopathy associated with mild mental retardation without any obvious structural brain abnormality. An abnormal alpha-dystroglycan pattern in observed in the muscle. The disease is caused by variants affecting the gene represented in this entry. |