Term Name: muscular dystrophy-dystroglycanopathy type B5
Synonyms: congenital muscular dystrophy 1C, FKRP-related congenital muscular dystrophy, MDC1C, MDDGB5, muscular dystrophy-dystroglycanopathy (congenital with or without impaired intellectual development), type B, 5, muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5
Definition: A congenital muscular dystrophy characterized by autosomal recessive inheritance of muscular dystrophy with variable penetrance of intellectual disability and structural brain abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the FKRP gene on chromosome 19q13.3.
Ontology: Human Disease [DOID:0110635]   ( DOID:0110635 )

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