OBO ID: DOID:0110636 |
Term Name: | congenital merosin-deficient muscular dystrophy 1A | Search Ontology: | |
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Definition: | A congenital muscular dystrophy characterized by autosomal recessive inheritance of muscle weakness that is apparent at birth or in the first 6 months of life and frequent development of periventricular white matter abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the LAMA2 gene on chromosome 6q22. (2) | ||
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Ontology: | Human Disease ( DOID:0110636 ) |
OTHER congenital merosin-deficient muscular dystrophy 1A PAGES
ZEBRAFISH MODELS
PHENOTYPE
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CITATIONS (6)
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