Term Name: | autosomal recessive limb-girdle muscular dystrophy type 2K |
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Synonyms: | LGMD2K, limb-girdle muscular dystrophy-intellectual disability syndrome, MDDGC1, muscular dystrophy limb-girdle type 2K, muscular dystrophy-dystroglycanopathy (limb-girdle) type C 1 |
Definition: | An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding protein O-mannosyltransferase (POMT1). |
Ontology: | Human Disease [DOID:0110297] ( DOID:0110297 ) |