The liver histology shows microvesicular steatosis and cholestasis with abundant iron accumulation in hepatocytes and Kupffer cells. The liver iron content slightly decreases with age, concomitantly with increasing liver fibrosis and cirrhosis. Abnormal transaminases and coagulation are noted. There are currently a combination of 55 biochemical and molecular genetics tests that can be completed prior to birth to diagnose<unk> . These tests include enzyme assays, deletion/duplication analysis, targeted variant analysis, sequence analysis of select exons, and sequence analysis of the entire coding region.
GRACILE syndrome
Rotor syndrome
ZTTK syndrome
MEDNIK syndrome
LIG4 syndrome
Treacher Collins syndrome
RAPADILINO syndrome
ATR-16 syndrome