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Bone marrow failure syndrome 5

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Description

Bone marrow failure syndrome-5 (BMFS5) is a hematologic disorder characterized by infantile onset of severe red cell anemia requiring transfusion. Additional features include hypogammaglobulinemia, poor growth with microcephaly, developmental delay, and seizures (summary by Toki et al., 2018) For a discussion of genetic heterogeneity of BMFS, see BMFS1 (614675).

OMIM

  • Mode of Inheritance

  • Autosomal dominant inheritance

VARIANTS

1

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Genes

External Links

  • OMIM

    618165

  • Orphanet
  • HPO
  • Medgen

    C4748488

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