has material basis in germline mutation in B4GAT1 muscular dystrophy-dystroglycanopathy, type A muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 https://github.com/monarch-initiative/mondo/issues/4069 https://www.malacards.org/card/congenital_muscular_dystrophy_dystroglycanopathy_type_a13 https://www.malacards.org/card/muscular_dystrophy_dystroglycanopathy_type_a_13 DOID:0111238 MONDO:0014120 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 13 OMIM:615287 UMLS:C3809042 MDDGA13 MEDGEN:815372 GARD:0015938