OBO ID: DOID:0111229
Term Name: congenital muscular dystrophy-dystroglycanopathy type A Search Ontology:
Synonyms:
  • congenital muscular alpha-dystroglycanopathy with brain and eye anomalies
  • klissencephaly type 2 with muscular and ocular involvement
  • MDDGA
Definition: A congenital muscular dystrophy-dystroglycanopathy characterized by cobblestone lissencephaly, muscle weakness, and brain and eye anomalies that has_material_basis_in autosomal recessive inheritance a defect in alpha-dystroglycan post-translational processing. https://www.ncbi.nlm.nih.gov/pubmed/23453667
References:
Ontology: Human Disease   (DOID:0111229)
OTHER congenital muscular dystrophy-dystroglycanopathy type A PAGES
GENES INVOLVED No data available
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None