Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6

An autosomal recessive muscular dystrophy caused by mutations in the LARGE gene. It is associated with characteristic brain and eye malformations, profound mental retardation, and death usually in the first years of life.

Also known as: muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) type A, 6, MDDGA6, Walker-Warburg syndrome or muscle-eye-brain disease, large-related, muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6

5 clinical trials for this condition and its sub-types, 0 tagged with Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6 itself.