Shwachman-Diamond syndrome type 2

Type

Disease
External link(s)
- IEMbase
Gene
- EFL1 / EFL1
  15q25.2
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- EFL1, translation elongation factor
Disease group(s)
- 16.5 Other disorders of ribosomal biogenesis