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 impaired intellectual development), type B, 5'; '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.