POGLUT1-CDG

Synonym(s)
- Dowling-Degos disease type 4
Type

Disease
External link(s)
- IEMbase
Gene
- POGLUT1 / Protein O-Glucosyltransferase 1
  3q13.33
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- Protein O-glucosyltransferase 1
Disease group(s)
- 18.2.4 Other disorders of O-linked protein glycosylation
Child entries
- POGLUT1-related limb-girdle muscular dystrophy