| Disease ID | Source | Name | Description |
| 615352 | OMIM | Muscular dystrophy-dystroglycanopathy limb-girdle C14 (MDDGC14) | An autosomal recessive form of muscular dystrophy characterized by mild proximal muscle weakness with onset in early childhood. Some patients may have additional features, such as mild intellectual disability or seizures. The disease is caused by variants affecting the gene represented in this entry. |
| 615350 | OMIM | Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A14 (MDDGA14) | An autosomal recessive disorder characterized by congenital muscular dystrophy associated with brain anomalies, eye malformations, and profound mental retardation. The disorder includes a severe form designated as Walker-Warburg syndrome and a less severe phenotype known as muscle-eye-brain disease. MDDGA14 features include increased muscle tone, microcephaly, cleft palate, feeding difficulties, severe muscle weakness, sensorineural hearing loss, cerebellar hypoplasia, ataxia, and retinal dysfunction. The disease is caused by variants affecting the gene represented in this entry. |
| 615351 | OMIM | Muscular dystrophy-dystroglycanopathy congenital with mental retardation B14 (MDDGB14) | A congenital muscular dystrophy characterized by severe muscle weakness apparent in infancy and mental retardation. Some patients may have additional features, such as microcephaly, cardiac dysfunction, seizures, or cerebellar hypoplasia. The disease is caused by variants affecting the gene represented in this entry. |