Pelger-Huet Anomaly

**Definition:** Autosomal dominant anomaly characterized by abnormal ovoid shape GRANULOCYTE nuclei and their clumping chromatin. Mutations in the LAMIN B receptor gene that results in reduced protein levels are associated with the disorder. Heterozygote individuals are healthy with normal granulocyte function while homozygote individuals occasionally have skeletal anomalies, developmental delay, and seizures.

**Tree numbers:** - C15.378.553.696 - C16.320.784

**Synonyms:** - Ovoid Neutrophil Nuclei, Developmental Delay, Epilepsy and Skeletal Abnormalities - Ovoid Neutrophil Nuclei, Developmental Delay, Epilepsy, and Skeletal Abnormalities - Pelger-Huet Nuclear Anomaly - Pelger-Huët Anomaly - Pelger-Huët Nuclear Anomaly