Term Name: muscular dystrophy-dystroglycanopathy type B1
Synonyms: CMD due to dystroglycanopathy, Muscular dystrophy-dystroglycanopathy congenital with impaired intellectual development B1
Definition: A congenital muscular dystrophy characterized by muscle weakness, cognitive impairment and brain abnormalities and has_material_basis_in mutation to the POMT1 gene that encodes O-mannosyltransferase.
Ontology: Human Disease [DOID:0050588]   ( DOID:0050588 )

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