Conditions / Genetic
Diamond-Blackfan anemia 8
info · Genetic
A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPS7 gene on chromosome 2p25.3.
Signs and symptoms
- Increased mean corpuscular volume
- Macrocytic anemia
- Wide nasal bridge
- Short stature
- Short nose
- Hypertelorism
- Growth delay
- Thick upper lip vermilion
- Decreased total neutrophil count
Also known as: DBA8; RPS7-related Diamond-Blackfan anemia