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Bone marrow failure syndrome 5

Summary

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). [from OMIM]

Available tests

29 tests are in the database for this condition.

Clinical tests (29 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: BCC7, BMFS5, LFS1, P53, TRP53, TP53
    Summary: tumor protein p53

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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