- TypePhenotype
- External link(s)
- Associated genes
- TSR2 TSR2 ribosome maturation factor deficiency
- ADA2 Adenosine deaminase 2 deficiency
- GATA1 GATA1 deficiency
- RPL11 Cytosolic large ribosomal subunit 11 deficiency
- RPL15 Cytosolic large ribosomal subunit 15 deficiency
- RPL18 Cytosolic large ribosomal subunit 18 deficiency
- RPL26 Cytosolic large ribosomal subunit 26 deficiency
- RPL27 Cytosolic large ribosomal subunit 27 deficiency
- RPL35 Cytosolic large ribosomal subunit 35 deficiency
- RPL35A Cytosolic large ribosomal subunit 35A deficiency
- RPL5 Cytosolic large ribosomal subunit 5 deficiency
- RPS10 Cytosolic small ribosomal subunit 10 deficiency
- RPS15A Cytosolic small ribosomal subunit 15A deficiency
- RPS17 Cytosolic small ribosomal subunit 20 deficiency
- RPS19 Cytosolic small ribosomal subunit 19 deficiency
- RPS20 Cytosolic small ribosomal subunit 20 deficiency
- RPS24 Cytosolic small ribosomal subunit 24 deficiency
- RPS26 Cytosolic small ribosomal subunit 26 deficiency
- RPS27 Cytosolic small ribosomal subunit 27 deficiency
- RPS28 Cytosolic small ribosomal subunit 28 deficiency
- RPS29 Cytosolic small ribosomal subunit 29 deficiency
- RPS7 Cytosolic small ribosomal subunit 7 deficiency
- Disease group(s)
- Child entries
- Cytosolic small ribosomal subunit 19 deficiency
- Cytosolic small ribosomal subunit 24 deficiency
- Cytosolic small ribosomal subunit 20 deficiency
- Cytosolic large ribosomal subunit 35A deficiency
- Cytosolic large ribosomal subunit 5 deficiency
- Cytosolic large ribosomal subunit 11 deficiency
- Cytosolic small ribosomal subunit 7 deficiency
- Cytosolic small ribosomal subunit 10 deficiency
- Cytosolic small ribosomal subunit 26 deficiency
- Cytosolic large ribosomal subunit 26 deficiency
- Cytosolic large ribosomal subunit 15 deficiency
- Cytosolic small ribosomal subunit 29 deficiency
- Cytosolic small ribosomal subunit 28 deficiency
- Cytosolic large ribosomal subunit 27 deficiency
- Cytosolic small ribosomal subunit 27 deficiency
- Cytosolic large ribosomal subunit 18 deficiency
- Cytosolic large ribosomal subunit 35 deficiency
- Cytosolic small ribosomal subunit 15A deficiency