Pelger-Huet anomaly
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.
MONDO:0000426
autosomal dominant disease
is_a
MONDO:0004805
leukocyte disorder
is_a
MONDO:0021106
laminopathy
is_a
PHA
related
Pelger Huet anomaly
related
Pelger-Huet anomaly
exact
Pelger-Huet nuclear anomaly
related
ovoid neutrophil nuclei, developmental delay, epilepsy and skeletal abnormalities
related
SPBC16G5.18