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muscular dystrophy-dystroglycanopathy type B5

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 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.
Uniprot Description A congenital muscular dystrophy characterized by a severe phenotype with inability to walk, muscle hypertrophy, marked elevation of serum creatine kinase, secondary deficiency of laminin alpha2, and a marked reduction in alpha-dystroglycan expression. Only a subset of affected individuals have brain involvements.
Disease Ontology Description 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.
Mondo Term and Equivalent IDs
MONDO:0011688:  muscular dystrophy-dystroglycanopathy type B5
MESH:C564691: 
UMLS:C1847759: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)