Term Name: | muscular dystrophy-dystroglycanopathy type B5 |
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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 ) |