| Disease ID | Source | Name | Description |
| 616052 | OMIM | Muscular dystrophy-dystroglycanopathy limb-girdle C7 (MDDGC7) | A form of muscular dystrophy resulting from defective glycosylation of alpha-dystroglycan, and characterized by a limb-girdle phenotype with muscular weakness apparent after ambulation is achieved. MDDGC7 individuals do not show epilepsy, mental retardation, structural eye/brain abnormalities, or white matter changes. The disease is caused by variants affecting the gene represented in this entry. |
| 614643 | OMIM | Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A7 (MDDGA7) | 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. |