POFUT1-CDG

Synonym(s)
- Dowling-Degos disease type 2
Type

Disease
External link(s)
- IEMbase
Gene
- POFUT1 / Protein O-Fucosyltransferase 1
  20q11.21
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- Protein O-fucosyltransferase 1
Disease group(s)
- 18.2.2 Disorders of O-fucosylation