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DO Term : congenital muscular dystrophy-dystroglycanopathy type A11 [DOID:0111230] Disease Ontology
Namespace  disease_ontology Obsolete  false
description  A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in B3GALNT2 on 1q42.3.
  • synonyms:
  • Walker-Warburg syndrome or muscle-eye-brain disease B3GALNT2-related,
  • 615181,
  • OMIM:615181,
  • MDDGA11,
  • congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A11
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