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DO Term : congenital muscular dystrophy-dystroglycanopathy type A9 [DOID:0111232] 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 DAG1 on 3p21.31.
  • synonyms:
  • Walker-Warburg syndrome or muscle-eye-brain disease DAG1-related,
  • OMIM:616538,
  • congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A9,
  • MDDGA9,
  • 616538
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