OBO ID: DOID:0111229 |
Term Name: | congenital muscular dystrophy-dystroglycanopathy type A | Search Ontology: | |
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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 | ||
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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
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