Mondo Description Any muscular dystrophy-dystroglycanopathy, type A in which the cause of the disease is a mutation in the B3GALNT2 gene.
Uniprot Description 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.
Mondo Term and Equivalent IDs
MONDO:0014071: muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11