congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A3Walker-Warburg syndrome or muscle-eye-brain disease, POMGNT1-relatedMDDGA3
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 POMGNT1 on 1p34.1.