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GTR Home > Conditions/Phenotypes > Pancytopenia-developmental delay syndrome

Pancytopenia-developmental delay syndrome

Synonyms
Bone marrow failure syndrome 2
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Bone marrow failure syndrome-2 is an autosomal recessive disorder characterized by trilineage bone marrow failure, learning disabilities, and microcephaly. Cutaneous features and increased chromosome breakage are not features (Tummala et al., 2014). For a discussion of genetic heterogeneity of BMFS, see BMFS1 (614675). [from OMIM]

Available tests

17 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (17 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: BMFS2, C9orf102, HEBO, RAD26L, SR278, ERCC6L2
    Summary: ERCC excision repair 6 like 2

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

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