Term Name: autosomal recessive limb-girdle muscular dystrophy type 2K
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 )

Relationships
is a type of: autosomal recessive limb-girdle muscular dystrophy