label: muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6
label_lc: muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a6
description: 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.