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.
Also Known As:
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; Pseudo Pelger-Huet Anomaly; Pseudo Pelger-Huet Nuclear Anomaly; Pseudo Pelger-Huët Anomaly; Anomaly, Pelger-Huet; Anomaly, Pelger-Huet Nuclear; Anomaly, Pelger-Huët; Anomaly, Pelger-Huët Nuclear; Anomaly, Pseudo Pelger-Huet; Anomaly, Pseudo Pelger-Huët; Nuclear Anomaly, Pelger-Huet; Nuclear Anomaly, Pelger-Huët; Pelger Huet Anomaly; Pelger Huet Nuclear Anomaly; Pelger Huët Anomaly; Pelger Huët Nuclear Anomaly; Pelger-Huet Anomaly, Pseudo; Pelger-Huët Anomaly, Pseudo; Pseudo Pelger Huet Anomaly; Pseudo Pelger Huet Nuclear Anomaly; Pseudo Pelger Huët Anomaly