Conditions / Genetic

Diamond-Blackfan anemia 5

info · Genetic

A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPL35A gene on chromosome 3q29.

Signs and symptoms

Erythroid hypoplasia
Decreased total leukocyte count
Short stature
Ventricular septal defect
Global developmental delay
Hypertelorism
Reticulocytopenia
Macrocytic anemia
Hypospadias
Low-set ears

Also known as: DBA5; RPL35A-related Diamond-Blackfan anemia