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.
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muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
MONDO:0009364
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
MONDO:0009667
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4
MONDO:0009678
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
MONDO:0013154
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5
MONDO:0013157
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
MONDO:0013835