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DO Term : congenital muscular dystrophy-dystroglycanopathy type A8 [DOID:0111231] 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 POMGNT2 on 3p22.1.
  • synonyms:
  • congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A8,
  • Walker-Warburg syndrome or muscle-eye-brain disease GTDC2-related,
  • 614830,
  • OMIM:614830,
  • MDDGA8
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