OBO ID: DOID:0111238
Term Name: congenital muscular dystrophy-dystroglycanopathy type A13 Search Ontology:
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)
OTHER congenital muscular dystrophy-dystroglycanopathy type A13 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
B4GAT1 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 13 615287
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None