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 A6 ID (Ontology) DOID:0111242 (Human Disease)
Definition A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in LARGE on 22q12.3.
Also Known As "congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A6" ; "MDDGA6" ; "Walker-Warburg syndrome or muscle-eye-brain disease, LARGE-related"
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 Genes
 congenital muscular dystrophy-dystroglycanopathy type A6       3
 for disease ribbon | congenital muscular dystrophy-dystroglycanopathy type A6       3
 model of | congenital muscular dystrophy-dystroglycanopathy type A6       3
Spanning Tree (Parents/Children)
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autosomal recessive disease____________
muscular dystrophy-dystroglycanopathy__|
                                       congenital muscular dystrophy-dystroglycanopathy type A
                                        |__congenital muscular dystrophy-dystroglycanopathy type A6  3 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 A6" EXACT
    "MDDGA6" EXACT OMO:0003012
    "Walker-Warburg syndrome or muscle-eye-brain disease, LARGE-related" EXACT
Secondary IDs
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MIM:613154