muscular dystrophy-dystroglycanopathy type B5 (DOID:0110635)
Alliance: disease page
Synonyms: congenital muscular dystrophy 1C; FKRP-related congenital muscular dystrophy; MDC1C; MDDGB5; muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5
Alt IDs: OMIM:606612, ICD10CM:G71.2, ORDO:52428
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.