Metadata | |
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ID | DOID:0112377 |
Name | muscular dystrophy-dystroglycanopathy type B14 |
Definition | A muscular dystrophy-dystroglycanopathy type B that has_material_basis_in homozygous or compound heterozygous mutation in the GMPPB gene on chromosome 3p21.31. https://pubmed.ncbi.nlm.nih.gov/23768512/ |
Xrefs | |
Synonyms |
congenital muscular dystrophy GMPPB-related [EXACT] MDDGB14 [EXACT] |
Parent Relationships |