OBO ID: DOID:0111240
Term Name: congenital muscular dystrophy-dystroglycanopathy type A2 Search Ontology:
Synonyms:
  • congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A2
  • MDDGA2
  • Walker-Warburg syndrome or muscle-eye-brain disease, POMT2-related
Definition: A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in POMT2 on 14q24.3. https://www.ncbi.nlm.nih.gov/pubmed/15894594
References:
Ontology: Human Disease   ( DOID:0111240 )
OTHER congenital muscular dystrophy-dystroglycanopathy type A2 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
POMT2 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2 613150
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None