Schneckenbecken dysplasia

Synonym(s)
- SLC35D1-CDG
Type

Disease
External link(s)
- Orphanet
- IEMbase
Gene
- SLC35D1 / solute carrier family 35 member D1
  1p31.3
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- Golgi apparatus UDP-N-acetylglucosamine transporter
Disease group(s)
- 18.4.2 Disorders of Golgi transport