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muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3

Disease Summary
Associated Targets (1)
Tbio

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Uniprot Description An autosomal recessive disorder characterized by congenital muscular dystrophy associated with mental retardation and mild structural brain abnormalities. Clinical features include mental retardation, white matter changes, cerebellar cysts, pontine hypoplasia, myopia, optic atrophy, decreased alpha-dystroglycan on muscle biopsy and increased serum creatine kinase.
Mondo Term and Equivalent IDs
MONDO:0013155:  muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
UMLS:C3150412: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)
No novelty measurements found