5,10-methylenetetrahydrofolate reductase deficiency

(MTHFR deficiency)

Type

Disease
External link(s)
- Orphanet
- IEMbase
Gene
- MTHFR / Methylenetetrahydrofolate Reductase
  1p36.22
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- Methylenetetrahydrofolate reductase
Disease group(s)
- 21.8 Disorders of folate metabolism
Child entries
- MTHFR-related mild hyperhomocysteinemia