| Disease ID | Source | Name | Description |
| 616094 | OMIM | Muscular dystrophy-dystroglycanopathy limb-girdle C12 (MDDGC12) | An autosomal recessive limb-girdle congenital muscular dystrophy, characterized by muscle weakness and delayed motor development in association with cognitive impairment. The disease is caused by variants affecting the gene represented in this entry. |
| 615249 | OMIM | Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A12 (MDDGA12) | 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. |