| Disease ID | Source | Name | Description |
| 614830 | OMIM | Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A8 (MDDGA8) | 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. |
| 618135 | OMIM | Muscular dystrophy-dystroglycanopathy limb-girdle C8 (MDDGC8) | An autosomal recessive muscular disease with onset in childhood, characterized by limb-girdle muscular dystrophy and intellectual disability without brain malformation. Disease severity is highly variable and some patients may be clinically asymptomatic. The disease is caused by variants affecting the gene represented in this entry. |