Shwachman-Diamond syndrome type 1

Type

Disease
External link(s)
- Orphanet
- IEMbase
Gene
- SBDS / SBDS, ribosome maturation factor
  7q11.21
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- Ribosome biogenesis protein SBDS
Disease group(s)
- 16.5 Other disorders of ribosomal biogenesis