Search Ontology:
Human Disease

congenital muscular dystrophy-dystroglycanopathy type A9

Term ID
DOID:0111232
Synonyms
  • congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A9
  • MDDGA9
  • Walker-Warburg syndrome or muscle-eye-brain disease DAG1-related
Definition
A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in DAG1 on 3p21.31. https://www.ncbi.nlm.nih.gov/pubmed/24052401
References
Ontology
Human Disease   ( DOID:0111232 )
Relationships
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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