|
1
|
(HPO:0001508)
|
Failure to thrive |
|
|
|
|
454 / 7739
|
|
2
|
(HPO:0001510)
|
Growth delay |
|
|
|
|
295 / 7739
|
|
3
|
(HPO:0001396)
|
Cholestasis |
|
|
|
|
136 / 7739
|
|
4
|
(HPO:0005242)
|
Extrahepatic biliary duct atresia |
Very frequent [Orphanet]
|
|
|
|
9 / 7739
|
|
5
|
(HPO:0000175)
|
Cleft palate |
|
|
|
|
349 / 7739
|
|
6
|
(HPO:0000510)
|
Rod-cone dystrophy |
Very frequent [Orphanet]
|
|
|
|
266 / 7739
|
|
7
|
(HPO:0000010)
|
Recurrent urinary tract infections |
|
|
|
|
56 / 7739
|
|
8
|
(HPO:0000069)
|
Abnormality of the ureter |
Very frequent [Orphanet]
|
|
|
|
47 / 7739
|
|
9
|
(HPO:0000071)
|
Ureteral stenosis |
|
|
|
|
9 / 7739
|
|
10
|
(HPO:0000072)
|
Hydroureter |
|
|
|
|
146 / 7739
|
|
11
|
(HPO:0000076)
|
Vesicoureteral reflux |
|
|
|
|
94 / 7739
|
|
12
|
(HPO:0000126)
|
Hydronephrosis |
|
|
|
|
119 / 7739
|
|
13
|
(HPO:0000148)
|
Vaginal atresia |
|
|
|
|
16 / 7739
|
|
14
|
(HPO:0000204)
|
Cleft upper lip |
Very frequent [Orphanet]
|
|
|
|
193 / 7739
|
|
15
|
(HPO:0000580)
|
Pigmentary retinopathy |
|
|
|
|
49 / 7739
|
|
16
|
(HPO:0000581)
|
Blepharophimosis |
|
|
|
|
197 / 7739
|
|
17
|
(HPO:0000952)
|
Jaundice |
|
|
|
|
105 / 7739
|
|
18
|
(HPO:0000989)
|
Pruritus |
|
|
|
|
111 / 7739
|
|
19
|
(HPO:0001409)
|
Portal hypertension |
|
|
|
|
39 / 7739
|
|
20
|
(HPO:0001626)
|
Abnormality of the cardiovascular system |
Very frequent [Orphanet]
|
|
|
|
73 / 7739
|
|
21
|
(HPO:0001629)
|
Ventricular septal defect |
|
|
|
|
316 / 7739
|
|
22
|
(HPO:0001643)
|
Patent ductus arteriosus |
|
|
|
|
228 / 7739
|
|
23
|
(HPO:0001655)
|
Patent foramen ovale |
|
|
|
|
31 / 7739
|
|
24
|
(HPO:0001680)
|
Coarctation of aorta |
|
|
|
|
57 / 7739
|
|
25
|
(HPO:0005113)
|
Dilatation of the aortic arch |
|
|
|
|
12 / 7739
|
|
26
|
(HPO:0001744)
|
Splenomegaly |
|
|
|
|
337 / 7739
|
|
27
|
(HPO:0002240)
|
Hepatomegaly |
|
|
|
|
467 / 7739
|
|
28
|
(HPO:0002566)
|
Intestinal malrotation |
|
|
|
|
89 / 7739
|
|
29
|
(HPO:0002904)
|
Hyperbilirubinemia |
|
|
|
|
32 / 7739
|
|
30
|
(HPO:0002910)
|
Elevated hepatic transaminases |
|
|
|
|
158 / 7739
|
|
31
|
(HPO:0001642)
|
Pulmonic stenosis |
|
|
|
|
89 / 7739
|
|
32
|
(HPO:0004415)
|
Pulmonary artery stenosis |
|
|
|
|
25 / 7739
|
|
33
|
(HPO:0004971)
|
Pulmonary artery hypoplasia |
|
|
|
|
15 / 7739
|
|
34
|
(HPO:0200065)
|
Chorioretinal degeneration |
rare [HPO:skoehler]
|
|
|
|
7 / 7739
|
|
35
|
(OMIM)
|
Preauricular dimples |
|
|
|
|
1 / 7739
|
|
36
|
(OMIM)
|
Hearing impairment, mild (2 patients) |
|
|
|
|
1 / 7739
|
|
37
|
(HPO:0001070)
|
Mottled pigmentation |
|
|
|
|
8 / 7739
|
|
38
|
(OMIM)
|
Long narrow palpebral fissures (1 patient) |
|
|
|
|
1 / 7739
|
|
39
|
(HPO:0001631)
|
Atria septal defect |
|
|
|
|
274 / 7739
|
|
40
|
(HPO:0001671)
|
Abnormality of the cardiac septa |
|
|
|
|
55 / 7739
|
|
41
|
(OMIM)
|
Hypertrophy of branches of the hepatic artery |
|
|
|
|
1 / 7739
|
|
42
|
(OMIM)
|
Obstructive liver disease |
|
|
|
|
1 / 7739
|
|
43
|
(OMIM)
|
Liver biopsy shows ductal proliferation |
|
|
|
|
1 / 7739
|
|
44
|
(OMIM)
|
Large duct obstruction |
|
|
|
|
1 / 7739
|
|
45
|
(OMIM)
|
Ductal plate malformation |
|
|
|
|
5 / 7739
|
|
46
|
(OMIM)
|
Portal inflammation |
|
|
|
|
3 / 7739
|
|
47
|
(MedDRA:10016642)
|
Fibrosis |
|
|
|
|
9 / 7739
|
|
48
|
(OMIM)
|
Dilated intrahepatic bile ducts |
|
|
|
|
1 / 7739
|
|
49
|
(OMIM)
|
Stenosis of common bile duct |
|
|
|
|
1 / 7739
|
|
50
|
(MedDRA:10008604)
|
Cholangitis |
|
|
|
|
6 / 7739
|
|
51
|
(OMIM)
|
Jejunal web |
|
|
|
|
1 / 7739
|
|
52
|
(OMIM)
|
Small intestinal septum |
|
|
|
|
1 / 7739
|
|
53
|
(OMIM)
|
Pruritus secondary to liver disease |
|
|
|
|
1 / 7739
|
|
54
|
(OMIM)
|
Normal cognition |
|
|
|
|
7 / 7739
|
|
55
|
(HPO:0000174)
|
Abnormality of the palate |
Very frequent [Orphanet]
|
|
|
|
298 / 7739
|
|
56
|
(HPO:0002242)
|
Abnormality of the intestine |
Very frequent [Orphanet]
|
|
|
|
42 / 7739
|
|
57
|
(HPO:0004325)
|
Decreased body weight |
Very frequent [Orphanet]
|
|
|
|
492 / 7739
|
|
58
|
(HPO:0003577)
|
Congenital onset |
|
|
|
|
133 / 7739
|
|
59
|
(HPO:0003745)
|
Sporadic |
|
|
|
|
131 / 7739
|
|
60
|
(HPO:0030151)
|
Cholangitis |
|
|
|
|
10 / 7739
|