Search Ontology:
Human Disease

congenital muscular dystrophy-dystroglycanopathy type A6

Term ID
DOID:0111242
Synonyms
  • congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A6
  • MDDGA6
  • Walker-Warburg syndrome or muscle-eye-brain disease, LARGE-related
Definition
A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in LARGE on 22q12.3. https://www.ncbi.nlm.nih.gov/pubmed/17436019
References
Ontology
Human Disease   ( DOID:0111242 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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