Term Name: muscular dystrophy-dystroglycanopathy type B14
Synonyms: congenital muscular dystrophy GMPPB-related, MDDGB14
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.
Ontology: Human Disease [DOID:0112377]   ( DOID:0112377 )

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