Term Name: | muscular dystrophy-dystroglycanopathy type C8 |
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Synonyms: | autosomal recessive limb-girdle muscular dystrophy 24, LGMDR24, muscular dystrophy-dystroglycanopathy (limb-girdle) type C, 8, muscular dystrophy-dystroglycanopathy, limb-girdle, POMGNT2-related |
Definition: | A muscular dystrophy-dystroglycanopathy characterized by onset in childhood of a variable phrenotype that ranges from mild intellectual disability and gait abnormalities to asymptomatic that has_material_basis_in homozygous or compound heterozygous mutation in the POMGNT2 gene on chromosome 3p22.1. |
Ontology: | Human Disease [DOID:0112382] ( DOID:0112382 ) |