MDDGA8congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A8Walker-Warburg syndrome or muscle-eye-brain disease GTDC2-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 POMGNT2 on 3p22.1.