congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A13MDDGA13Walker-Warburg syndrome or muscle-eye-brain disease, B3GNT1-relatedWalker-Warburg syndrome or muscle-eye-brain disease, B4GNT1-related
obo:hasOBONamespace
disease_ontology
n2:IAO_0000115
A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in B4GAT1 on 11q13.2.