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muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4

Disease Summary
Associated Targets (1)
Tbio

1


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Uniprot Description An autosomal recessive disorder characterized by congenital muscular dystrophy and evidence of dystroglycanopathy. Features included increased serum creatine kinase, generalized weakness, mild white matter changes on brain MRI, and absence of mental retardation.
Mondo Term and Equivalent IDs
MONDO:0013156:  muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4
UMLS:C2751052: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)
No novelty measurements found