Immunodeficiency, developmental delay, and hypohomocysteinemia disease

(IMDDHH disease)

Type

Disease
External link(s)
- Orphanet
- IEMbase
Gene
- NFE2L2 / Nuclear Factor, Erythroid 2 Like 2
  2q31.2
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- Nuclear factor erythroid 2-related factor 2
Pathway
- Glutathione metabolism
Disease group(s)
- 2.1 Disorders of glutathione metabolism