- TypeGroup
- Child entries
- TSR2 ribosome maturation factor deficiency
- Shwachman-Diamond syndrome
- Shwachman-Diamond syndrome type 1
- Shwachman-Diamond syndrome type 2
- DNAJC21-related disease
- EIF6-related disease
- Dyskeratosis congenita
- Autosomal recessive dyskeratosis congenita type 1
- Autosomal recessive dyskeratosis congenita type 2
- Autosomal recessive dyskeratosis congenita type 6
- X-linked dyskeratosis congenita
- Ribosomal protein SA deficiency
- TAF1A-related familial isolated dilated cardiomyopathy
- Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder
- SHQ1 deficiency
- Nucleophosmin 1 deficiency
- RBM28 deficiency
- Leukoencephalopathy with brain calcifications and cysts
- Anauxetic dysplasia
- Cartilage-hair hypoplasia
- POP1 deficiency
- NEPRO-related skeletal dysplasia
- Exoribonuclease 1 deficiency
- Bowen-Conradi syndrome
- BMS1-related aplasia cutis congenita
- LTV1 deficiency