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muscular dystrophy-dystroglycanopathy type B6

Disease Summary
Associated Targets (1)
Tbio

1


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Mondo Description A congenital muscular dystrophy characterized by autosomal recessive inheritance of muscular dystrophy with mental retardation and structural brain abnormalities that has material basis in homozygous or compound heterozygous mutation in the LARGE gene on chromosome 22q12.
Uniprot Description A congenital muscular dystrophy associated with profound mental retardation, white matter changes and structural brain abnormalities. Skeletal muscle biopsies show reduced immunolabeling of alpha-dystroglycan.
Disease Ontology Description A congenital muscular dystrophy characterized by autosomal recessive inheritance of muscular dystrophy with mental retardation and structural brain abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the LARGE gene on chromosome 22q12.
Mondo Term and Equivalent IDs
MONDO:0012138:  muscular dystrophy-dystroglycanopathy type B6
MESH:C563844: 
UMLS:C1837229: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)