Term Name: muscular dystrophy-dystroglycanopathy type B4
Synonyms: congenital muscular dystrophy FKTN-related, MDDGB4
Definition: A muscular dystrophy-dystroglycanopathy type B characterized by muscular dystropy resulting from impaired glycosylation of dystroglycan in the absence of intellectual impairment that has_material_basis_in homozygous or compound heterozygous mutation in the FKTN gene on chromosome 9q31.2.
Ontology: Human Disease [DOID:0112379]   ( DOID:0112379 )

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