Conditions / Genetic
Diamond-Blackfan anemia 20
info · Genetic
A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPS15A gene on chromosome 16p12.3.
Signs and symptoms
- Anemia
- Erythroid hypoplasia
- Acetabular dysplasia
- Total anomalous pulmonary venous return
Also known as: DBA20; RPS15A-related Diamond-Blackfan anemia