Conditions / Genetic
Diamond-Blackfan anemia 13
info · Genetic
A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPS29 gene on chromosome 14q21.3.
Signs and symptoms
- Elevated red cell adenosine deaminase activity
- Normocytic anemia
- Abnormal facial shape
Also known as: DBA13; RPS29-related Diamond-Blackfan anemia