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DO Term : congenital muscular dystrophy-dystroglycanopathy type A7 [DOID:0111234] 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 ISPD on 7p21.2-p21.1.
  • synonyms:
  • Walker-Warburg syndrome or muscle-eye-brain disease ISPD-related,
  • congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A7,
  • OMIM:614643,
  • MDDGA7,
  • 614643
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