OnlineIMD
Shwachman-Diamond syndrome
Type
Phenotype
External link(s)
Orphanet
Associated genes
Gene list
SBDS
Shwachman-Diamond syndrome type 1
EFL1
Shwachman-Diamond syndrome type 2
DNAJC21
DNAJC21-related disease
EIF6
EIF6-related disease
Disease group(s)
16.5 Other disorders of ribosomal biogenesis