Conditions / Genetic
Diamond-Blackfan anemia 10
info · Genetic
A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPS26 gene on chromosome 12q13.2.
Signs and symptoms
- Anemia
- Macrocytic anemia
- Hearing impairment
- Short stature
- Ventricular septal defect
- Microtia
- Atresia of the external auditory canal
- Cleft palate
- Malar flattening
- Reticulocytopenia
Also known as: DBA10; RPS26-related Diamond-Blackfan anemia