| Disease ID | Source | Name | Description |
| 613151 | OMIM | Muscular dystrophy-dystroglycanopathy congenital with mental retardation B3 (MDDGB3) | An autosomal recessive disorder characterized by congenital muscular dystrophy associated with mental retardation and mild structural brain abnormalities. Clinical features include mental retardation, white matter changes, cerebellar cysts, pontine hypoplasia, myopia, optic atrophy, decreased alpha-dystroglycan on muscle biopsy and increased serum creatine kinase. The disease is caused by variants affecting the gene represented in this entry. |
| 617123 | OMIM | Retinitis pigmentosa 76 (RP76) | A form of retinitis pigmentosa, a retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. RP76 inheritance is autosomal recessive. The disease is caused by variants affecting the gene represented in this entry. |
| 253280 | OMIM | Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A3 (MDDGA3) | An autosomal recessive disorder characterized by congenital muscular dystrophy, ocular abnormalities, cobblestone lissencephaly, and cerebellar and pontine hypoplasia. Patients present severe congenital myopia, congenital glaucoma, pallor of the optic disks, retinal hypoplasia, mental retardation, hydrocephalus, abnormal electroencephalograms, generalized muscle weakness and myoclonic jerks. 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. |
| 613157 | OMIM | Muscular dystrophy-dystroglycanopathy limb-girdle C3 (MDDGC3) | A rare form of limb-girdle muscular dystrophy with normal cognition. Muscle biopsy shows dystrophic changes with variable staining for glycosylated alpha-dystroglycan. The disease is caused by variants affecting the gene represented in this entry. |