Conditions / Genetic
Diamond-Blackfan anemia 9
info ยท Genetic
A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPS10 gene on chromosome 6p21.31.
Signs and symptoms
- Anemia
- Decreased circulating vitamin D concentration
- Growth delay
- Webbed neck
Also known as: DBA9; RPS10-related Diamond-Blackfan anemia