Pelger-Huet anomaly

info · Genetic

A hematopoietic system disease characterized by white blood cells with unusually shaped nuclei that has_material_basis_in heterozygous mutation in LBR on chromosome 1q42.12.

Signs and symptoms

Bilateral tonic-clonic seizure
Abnormality of the dentition
Strabismus
Failure to thrive
Hypertelorism
Foot dorsiflexor weakness
Lower limb hypertonia
Gingival overgrowth
Pes cavus
Lower limb hyperreflexia