Table 1.

Demographic and clinical characteristics of 10 children with Alagilla syndrome. N = 10

Age (months)	2.5(1–72)
Gender (n, %)
Male	8(80%)
Female	2(20%)
Clinical symptoms (n, %)
Hepatic features	10(100%)
Cardiac features	7(70%)
Facial features	7(70%)
Ocular features	0(0)
Skeletal features	4(40%)
Renal features	3(30%)
Hypercholesteremia	6(60%)
Small for gestational age	4(40%)
Epileptic seizure	1 (10%)
Liver function
Total bilirubin(umol/L) (normal, 3.4–20.5 umol/L),	138.75(6.2–183.6)
Direct bilirubin(umol/L) (normal, 0–8.6 umol/L)	107.25(2.4–148.3)
Total bile acid(umol/L) (normal, 0.5–10.0 umol/L)	110.65(6.7–481.2)
Gamma-glutamyltranspeptidase(U/L) (normal, 9–64 U/L)	223(34–1139)
Total cholesterol(mmol/L) (normal, 3.36–5.69 mmol/L)	6.02(3.64–7.65)
Genetic variation
JAG1 (n, %)	9(90%)
NOTCH2 (n, %)	1(10%)