| Disease ID | Source | Name | Description |
| 611588 | OMIM | Muscular dystrophy-dystroglycanopathy limb-girdle C4 (MDDGC4) | An autosomal recessive degenerative myopathy characterized by progressive weakness of the pelvic and shoulder girdle muscles, and elevated serum creatine kinase. MDDGC4 has no brain involvement and a remarkable clinical response to corticosteroids. The disease is caused by variants affecting the gene represented in this entry. |
| 253800 | OMIM | Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A4 (MDDGA4) | 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. |
| 611615 | OMIM | Cardiomyopathy, dilated 1X (CMD1X) | A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. The disease is caused by variants affecting the gene represented in this entry. |
| 613152 | OMIM | Muscular dystrophy-dystroglycanopathy congenital without mental retardation B4 (MDDGB4) | An autosomal recessive disorder characterized by congenital muscular dystrophy and evidence of dystroglycanopathy. Features included increased serum creatine kinase, generalized weakness, mild white matter changes on brain MRI, and absence of mental retardation. The disease is caused by variants affecting the gene represented in this entry. |