Proband | Liver | Cardiac | Renal | Eye | Skeletal | Facies | Mutation |
1 CC | Cholestasis, bile duct paucity | Pulmonary artery stenosis | Vesico-ureteric reflux | Posterior embryotoxon | Normal spine | Present | p.Cys373Arg |
2 CC | Cholestasis | Atrial septal defect | Echogenicity of kidneys | NE | Butterfly vertebrae | Absent | p.Arg2003X |
3 CC | Cholestasis, bile duct proliferation, hepatic mass | Atrial septal defect, mild pulmonary stenosis | Normal | Posterior embryotoxon | Normal spine | Absent | p.Pro394Ser |
4 NC | Elevated LFTs, bile duct paucity | Normal | NE | Posterior embryotoxon | Normal spine | Absent | p.Pro383Ser |
5 NC | Cholestasis, bile duct paucity | Normal | Normal | Normal | Normal spine | Absent | p.Ser856fs16x |
6 NC | Cholestasis, portal hypertension | Mild pulmonary stenosis | Normal | Normal | Normal spine | Absent | p.Arg1953Cys |
7 NC | Cholestasis, bile duct paucity | Normal | Normal | Cataracts | Normal spine | Absent | p.Arg1953His (p.Ile681Asn) |
8 NC | Bile duct paucity | Normal | Normal | NE | Normal spine | Absent | p.Cys480Arg |
9* CC | Cholestasis | Pulmonary stenosis | Neonatal renal failure | Normal | Normal spine | Present | c.5930-1G→A |
10* CC | Cholestasis | Tetralogy of Fallot | Renal failure | Posterior embryotoxon | Normal spine | Absent | p.Cys444Tyr |
↵* Patients reported in original paper, McDaniell et al, 2006.
ALGS, Alagille syndrome; CC, consistent with ALGS per classic diagnostic criteria; NC, not consistent with classic ALGS, partial diagnostic criteria only; NE, not evaluated.