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XB-GENEPAGE-1001003
mtr 5-methyltetrahydrofolate-homocysteine methyltransferase
Monarch Ortholog Phenotypes
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Human (18 sources): Blindness, Cerebral atrophy, Decreased circulating methylcobalamin concentration, Decreased methionine synthase activity, Failure to thrive, Feeding difficulties in infancy, Gait disturbance, Generalized hypotonia, Global developmental delay, Homocystinuria, [+] |
Mouse (2 sources): embryonic lethality, complete penetrance, increased circulating homocysteine level |
View all ortholog results at Monarch |