muscular dystrophy-dystroglycanopathy, type A muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 https://www.malacards.org/card/congenital_muscular_dystrophy_dystroglycanopathy_type_a3 https://www.malacards.org/card/muscular_dystrophy_dystroglycanopathy_congenital_with_brain_and_eye_anomalies_type_a_3 OMIM:253280 MEDGEN:462869 MONDO:0009667 NCIT:C126740 muscle-eye-brain-POMGNT1 related An autosomal recessive muscular dystrophy caused by mutations in the POMGNT1 gene. It is associated with characteristic brain and eye malformations, profound mental retardation, and death usually in the first years of life. muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3 GARD:0015204 UMLS:C3151519 MDDGA3 DOID:0111236 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) type A, 3 muscle-eye-brain disease myopathy caused by variation in POMGNT1