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Metadata
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

MIM:618992

Synonyms

congenital muscular dystrophy DPM3-related [EXACT]

MDDGB15 [EXACT]

Parent Relationships

is_a muscular dystrophy-dystroglycanopathy type B

is_a autosomal recessive disease

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