<unk>  can be diagnosed on the basis of a complete physical examination (as patients suffering from the syndrome often possess noticeable physical characteristics such as a cleft palate, large protruding ears, and facial asymmetry). As the syndrome is inherited, a complete medical history is also taken, and additional assessments may be made based on the results of laboratory tests, biopsies, and imaging studies. Genetic and molecular tests such as DNA sequencing can also be used for a complete diagnosis of<unk> .
Abruzzo–Erickson syndrome
XMEN disease
Fanconi–Bickel syndrome
Smith–Fineman–Myers syndrome
Schwartz–Matsuo syndrome
Sanjad-Sakati syndrome
MELAS syndrome
Fitzsimmons–Guilbert syndrome