You are using an outdated browser. Please upgrade your browser to improve your experience.

muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14

Disease Summary
Associated Targets (1)
Tbio

1


Explore Associated Targets
Uniprot Description A congenital muscular dystrophy characterized by severe muscle weakness apparent in infancy and mental retardation. Some patients may have additional features, such as microcephaly, cardiac dysfunction, seizures, or cerebellar hypoplasia.
Mondo Term and Equivalent IDs
MONDO:0014141:  muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14
UMLS:C3809221: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)
No novelty measurements found