Search Ontology:
Human Disease

congenital muscular dystrophy-dystroglycanopathy type A13

Term ID
DOID:0111238
Synonyms
  • congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A13
  • MDDGA13
  • Walker-Warburg syndrome or muscle-eye-brain disease, B3GNT1-related
  • Walker-Warburg syndrome or muscle-eye-brain disease, B4GNT1-related
Definition
A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in B4GAT1 on 11q13.2. https://www.ncbi.nlm.nih.gov/pubmed/23359570
References
Ontology
Human Disease   ( DOID:0111238 )
Relationships
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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