Term Name: | muscular dystrophy-dystroglycanopathy type B3 |
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Synonyms: | congenital muscular dystrophy POMGNT1-related, MDDGB3 |
Definition: | A muscular dystrophy-dystroglycanopathy type B that has_material_basis_in homozygous or compound heterozygous mutation in the POMGNT1 gene on chromosome 1p34.1. |
Ontology: | Human Disease [DOID:0112378] ( DOID:0112378 ) |