Diamond-Blackfan anemia 11

A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPL26 gene on chromosome 17p13.1.

Signs and symptoms

• Unilateral radial aplasia
• Short stature
• Unilateral renal agenesis
• Hypoplasia of the ulna
• Anemia of inadequate production
• Finger aplasia
• Granulocytic hypoplasia
• Bilateral cleft palate
• Bicuspid aortic valve
• Absent thumb

Also known as: DBA11; RPL26-related Diamond-Blackfan anemia