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GTR Home > Conditions/Phenotypes > Pelger-Huët anomaly

Pelger-Huët anomaly

Synonyms
Ovoid neutrophil nuclei, developmental delay, epilepsy and skeletal abnormalities; Pelger-Huet Anomaly; Pelger-Huet nuclear anomaly

Summary

An autosomal dominant inherited condition caused by mutations in the lamin B receptor gene. It is characterized by defects in the neutrophil lobulation, resulting in the presence of dumbbell-shaped neutrophils with bilobed nuclei in the peripheral blood smear. [from NCI]

Available tests

21 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (21 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: C14SR, DHCR14B, LMN2R, PHA, PHASK, TDRD18, LBR
    Summary: lamin B receptor

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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