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GTR Home > Conditions/Phenotypes > Anemia, congenital dyserythropoietic, type IIIb, autosomal recessive

Summary

Congenital dyserythropoietic anemia type IIIb (CDAN3B) is an autosomal recessive disorder characterized macrocytic anemia, aberrant giant multinucleated erythroblasts in the bone marrow, and skull defects secondary to severe anemia with ineffective erythropoiesis (summary by Hernandez et al., 2023). For a general description and a discussion of genetic heterogeneity of CDA, see CDAN1 (224120). [from OMIM]

Available tests

1 test is in the database for this condition.

Genes See tests for all associated and related genes

  • Also known as: CDAN3B, CYK4, HsCYK-4, ID-GAP, MgcRacGAP, RACGAP1
    Summary: Rac GTPase activating protein 1

Clinical features

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