| Disease ID | Source | Name | Description |
| 606612 | OMIM | Muscular dystrophy-dystroglycanopathy congenital with or without mental retardation B5 (MDDGB5) | A congenital muscular dystrophy characterized by a severe phenotype with inability to walk, muscle hypertrophy, marked elevation of serum creatine kinase, secondary deficiency of laminin alpha2, and a marked reduction in alpha-dystroglycan expression. Only a subset of affected individuals have brain involvements. The disease is caused by variants affecting the gene represented in this entry. |
| 607155 | OMIM | Muscular dystrophy-dystroglycanopathy limb-girdle C5 (MDDGC5) | An autosomal recessive degenerative myopathy with age of onset ranging from childhood to adult life, and variable severity. Clinical features include proximal muscle weakness, waddling gait, calf hypertrophy, cardiomyopathy and respiratory insufficiency. A reduction of alpha-dystroglycan and laminin alpha-2 expression can be observed on skeletal muscle biopsy from MDDGC5 patients. The disease is caused by variants affecting the gene represented in this entry. |
| 613153 | OMIM | Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A5 (MDDGA5) | 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. |