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Metadata
ID DOID:0112375
Name muscular dystrophy-dystroglycanopathy type B
Definition A muscular dystrophy-dystroglycanopathy characterized by early onset of muscle weakness, intellectual disability in most cases, and variable presence of mild brain anomalies.
https://pubmed.ncbi.nlm.nih.gov/15792865/, https://pubmed.ncbi.nlm.nih.gov/17878207/
Xrefs

MIM:PS613155

Synonyms

MDDGB [EXACT]

Parent Relationships

is_a muscular dystrophy-dystroglycanopathy

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