FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term congenital muscular dystrophy-dystroglycanopathy type A13 ID (Ontology) DOID:0111238 (Human Disease)
Definition A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in B4GAT1 on 11q13.2.
Also Known As "congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A13" ; "MDDGA13" ; "Walker-Warburg syndrome or muscle-eye-brain disease, B3GNT1-related" (for all, see Synonyms field below)
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 congenital muscular dystrophy-dystroglycanopathy type A13       4
 for disease ribbon | congenital muscular dystrophy-dystroglycanopathy type A13       4
 model of | congenital muscular dystrophy-dystroglycanopathy type A13       4
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autosomal recessive disease____________
muscular dystrophy-dystroglycanopathy__|
                                       congenital muscular dystrophy-dystroglycanopathy type A
                                        |__congenital muscular dystrophy-dystroglycanopathy type A13  4 rec.
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Is a congenital muscular dystrophy-dystroglycanopathy type A
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Synonyms
  • "congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A13" EXACT
    "MDDGA13" EXACT OMO:0003012
    "Walker-Warburg syndrome or muscle-eye-brain disease, B3GNT1-related" EXACT
    "Walker-Warburg syndrome or muscle-eye-brain disease, B4GNT1-related" EXACT
Secondary IDs
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MIM:615287