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