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.
MONDO:0000171
muscular dystrophy-dystroglycanopathy, type A
is_a
MONDO:0018939
muscle-eye-brain disease
is_a
MDDGA6
related
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) type A, 6
exact
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6
related