Metadata | |
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ID | DOID:0112376 |
Name | muscular dystrophy-dystroglycanopathy type B15 |
Definition | A muscular dystrophy-dystroglycanopathy type B that has_material_basis_in homozygous or compound heterozygous mutation in the DPM3 gene on chromosome 1q22. https://pubmed.ncbi.nlm.nih.gov/31469168/ |
Xrefs | |
Synonyms |
congenital muscular dystrophy DPM3-related [EXACT] MDDGB15 [EXACT] |
Parent Relationships |