Term Name: muscular dystrophy-dystroglycanopathy type B3
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 )

Relationships
is a type of: autosomal recessive disease muscular dystrophy-dystroglycanopathy type B