OBO ID: DOID:0112382 |
Term Name: | muscular dystrophy-dystroglycanopathy type C8 | Search Ontology: | |
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Definition: | A muscular dystrophy-dystroglycanopathy characterized by onset in childhood of a variable phrenotype that ranges from mild intellectual disability and gait abnormalities to asymptomatic that has_material_basis_in homozygous or compound heterozygous mutation in the POMGNT2 gene on chromosome 3p22.1. https://pubmed.ncbi.nlm.nih.gov/27066570/ | ||
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Ontology: | Human Disease ( DOID:0112382 ) |
OTHER muscular dystrophy-dystroglycanopathy type C8 PAGES
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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