OBO ID: DOID:0110637 |
Term Name: | muscular dystrophy-dystroglycanopathy type B6 | Search Ontology: | |
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Definition: | A congenital muscular dystrophy characterized by autosomal recessive inheritance of muscular dystrophy with mental retardation and structural brain abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the LARGE gene on chromosome 22q12. (2) | ||
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Ontology: | Human Disease ( DOID:0110637 ) |
OTHER muscular dystrophy-dystroglycanopathy type B6 PAGES
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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