has material basis in germline mutation in LARGE1 muscular dystrophy-dystroglycanopathy, type A muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6 https://github.com/monarch-initiative/mondo/issues/4069 https://www.malacards.org/card/congenital_muscular_dystrophy_dystroglycanopathy_type_a6 https://www.malacards.org/card/muscular_dystrophy_dystroglycanopathy_congenital_with_brain_and_eye_anomalies_type_a_6 MDDGA6 MEDGEN:461764 MONDO:0013158 GARD:0015626 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) type A, 6 UMLS:C3150414 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. NCIT:C126743 OMIM:613154 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6 DOID:0111242 muscle-eye-brain disease