UDP-glucose ceramide glucosyltransferase deficiency

Synonym(s)
- Autosomal recessive congenital ichthyosis
Type

Disease
External link(s)
- IEMbase
Gene
- UGCG / UDP-Glucose Ceramide Glucosyltransferase
  9q31.3
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- UDP-glucose ceramide glucosyltransferase
Disease group(s)
- 14.6 Disorders of sphingolipid synthesis and recycling