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primary CD59 deficiency

Disease Summary
Associated Targets (1)
Tbio

1


Uniprot Description An autosomal recessive disorder characterized by infantile onset of chronic hemolysis and a relapsing-remitting polyneuropathy, often exacerbated by infection, and manifested as hypotonia, limb muscle weakness, and hyporeflexia.
Mondo Term and Equivalent IDs
MONDO:0012858:  primary CD59 deficiency
MESH:C567355: 
Orphanet:169464: 
UMLS:C2676767: