In female AFD patients, a nine-biomarker panel of proteins was identified, with only three proteins, apolipoprotein E, haemoglobin α-2 and peroxiredoxin 2, common to both genders, suggesting the existence of a gender-specific alteration in the plasma biomarkers of the patients with AFD. The gene discussed is APOE; the disease is Nager acrofacial dysostosis.