Conditions / Genetic
Diamond-Blackfan anemia 6
info · Genetic
A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPL5 gene on chromosome 1p22.1.
Signs and symptoms
- Cleft palate
- Persistence of hemoglobin F
- Cleft upper lip
- Micrognathia
- Bifid uvula
- Ventricular septal defect
- Failure to thrive
- Tetralogy of Fallot
- Hypertelorism
- Tracheomalacia
Also known as: DBA6; RPL5-related Diamond-Blackfan anemia