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arakawa syndrome 2

Disease Summary
Associated Targets (0)

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Mondo Description A rare autosomal dominant inherited metabolic disorder characterized by deficiency of the enzyme tetrahydrofolate-methyltransferase. It results in the abnormal metabolism of methylcobalamin. Signs and symptoms include mental retardation, megaloblastic anemia, hypotonia, epilepsy, and hepatosplenomegaly.
Mondo Term and Equivalent IDs
MONDO:0021915:  arakawa syndrome 2
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)
No novelty measurements found