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References OMIM Gene GeneReviews HGMD HGNC
last update : 15-09-2012
Symbol MTHFD1D
Location 14q23
Name MTHFD1 deficiency
Corresponding gene MTHFD1
Main clinical features
  • megaloblastic anaemia, atypical hemolytic uraemic syndrome, severe combined immune deficiency, elevated blood levels of homocysteine and methylmalonic acid, and a selective decreased synthesis of methylcobalamin in cultured fibroblasts.
  • Genetic determination not applicable
    Function/system disorder metabolism/vitamin
    Type disease