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DO Term : congenital muscular dystrophy-dystroglycanopathy type A14 [DOID:0111233] 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 in GMPPB on 3p21.31.
  • synonyms:
  • MDDGA14,
  • congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A14,
  • 615350,
  • OMIM:615350,
  • Walker-Warburg syndrome or muscle-eye-brain disease GMPPB-related
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