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DO Term : muscular dystrophy-dystroglycanopathy type B4 [DOID:0112379] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A muscular dystrophy-dystroglycanopathy type B characterized by muscular dystropy resulting from impaired glycosylation of dystroglycan in the absence of intellectual impairment that has_material_basis_in homozygous or compound heterozygous mutation in the FKTN gene on chromosome 9q31.2.
  • synonyms:
  • congenital muscular dystrophy FKTN-related,
  • OMIM:613152,
  • 613152,
  • MDDGB4
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Ontology Term --> Direct parents