Walker-Warburg syndrome or muscle-eye-brain disease POMK-relatedcongenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A12MDDGA12
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 POMK on 8p11.21.