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Krabbe disease, atypical, due to saposin A deficiency

Disease Summary
Associated Targets (1)
Tbio

1


Explore Associated Targets
Uniprot Description A disorder of galactosylceramide metabolism. Clinical features include neurologic regression around age 3 months, loss of spontaneous movements, hyporeflexia, generalized brain atrophy, and diffuse white matter dysmyelination.
Mondo Term and Equivalent IDs
MONDO:0012720:  Krabbe disease, atypical, due to saposin A deficiency
GARD:0010289: 
MESH:C567097: 
UMLS:C2673266: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)
No novelty measurements found