1
|
(HPO:0000076)
|
Vesicoureteral reflux |
|
|
|
|
94 / 7739
|
2
|
(HPO:0000089)
|
Renal hypoplasia |
|
|
|
|
78 / 7739
|
3
|
(HPO:0000110)
|
Renal dysplasia |
|
|
|
|
44 / 7739
|
4
|
(HPO:0000316)
|
Hypertelorism |
|
|
|
|
644 / 7739
|
5
|
(HPO:0000325)
|
Triangular face |
|
|
|
|
91 / 7739
|
6
|
(HPO:0000337)
|
Broad forehead |
|
|
|
|
116 / 7739
|
7
|
(HPO:0000400)
|
Macrotia |
|
|
|
|
108 / 7739
|
8
|
(HPO:0000482)
|
Microcornea |
|
|
|
|
102 / 7739
|
9
|
(HPO:0000486)
|
Strabismus |
|
|
|
|
576 / 7739
|
10
|
(HPO:0000490)
|
Deeply set eye |
|
|
|
|
131 / 7739
|
11
|
(HPO:0000518)
|
Cataract |
|
|
|
|
454 / 7739
|
12
|
(HPO:0000533)
|
Chorioretinal atrophy |
|
|
|
|
24 / 7739
|
13
|
(HPO:0000545)
|
Myopia |
|
|
|
|
286 / 7739
|
14
|
(HPO:0000582)
|
Upslanted palpebral fissure |
|
|
|
|
185 / 7739
|
15
|
(HPO:0000585)
|
Band keratopathy |
|
|
|
|
8 / 7739
|
16
|
(HPO:0000627)
|
Posterior embryotoxon |
|
|
|
|
15 / 7739
|
17
|
(HPO:0000772)
|
Abnormality of the ribs |
|
|
|
|
146 / 7739
|
18
|
(HPO:0001256)
|
Intellectual disability, mild |
Occasional [HPO:probinson]
|
|
|
|
141 / 7739
|
19
|
(HPO:0001284)
|
Areflexia |
|
|
|
|
198 / 7739
|
20
|
(HPO:0001297)
|
Stroke |
|
|
|
|
44 / 7739
|
21
|
(HPO:0001328)
|
Specific learning disability |
|
|
|
|
114 / 7739
|
22
|
(HPO:0001394)
|
Cirrhosis |
|
|
|
|
102 / 7739
|
23
|
(HPO:0001402)
|
Hepatocellular carcinoma |
|
|
|
|
25 / 7739
|
24
|
(HPO:0001492)
|
Axenfeld anomaly |
|
|
|
|
6 / 7739
|
25
|
(HPO:0001508)
|
Failure to thrive |
|
|
|
|
454 / 7739
|
26
|
(HPO:0001629)
|
Ventricular septal defect |
|
|
|
|
316 / 7739
|
27
|
(HPO:0001631)
|
Atria septal defect |
|
|
|
|
274 / 7739
|
28
|
(HPO:0001636)
|
Tetralogy of Fallot |
|
|
|
|
104 / 7739
|
29
|
(HPO:0001680)
|
Coarctation of aorta |
|
|
|
|
57 / 7739
|
30
|
(HPO:0001738)
|
Exocrine pancreatic insufficiency |
|
|
|
|
23 / 7739
|
31
|
(HPO:0001947)
|
Renal tubular acidosis |
|
|
|
|
21 / 7739
|
32
|
(HPO:0002155)
|
Hypertriglyceridemia |
|
|
|
|
67 / 7739
|
33
|
(HPO:0002895)
|
Papillary thyroid carcinoma |
|
|
|
|
10 / 7739
|
34
|
(HPO:0002910)
|
Elevated hepatic transaminases |
|
|
|
|
158 / 7739
|
35
|
(HPO:0002937)
|
Hemivertebrae |
|
|
|
|
41 / 7739
|
36
|
(HPO:0003022)
|
Hypoplasia of the ulna |
|
|
|
|
40 / 7739
|
37
|
(HPO:0003124)
|
Hypercholesterolemia |
|
|
|
|
53 / 7739
|
38
|
(HPO:0003189)
|
Long nose |
|
|
|
|
20 / 7739
|
39
|
(HPO:0004617)
|
Butterfly vertebral arch |
|
|
|
|
2 / 7739
|
40
|
(HPO:0004969)
|
Peripheral pulmonary artery stenosis |
|
|
|
|
9 / 7739
|
41
|
(HPO:0005280)
|
Depressed nasal bridge |
|
|
|
|
381 / 7739
|
42
|
(HPO:0006571)
|
Reduced number of intrahepatic bile ducts |
|
|
|
|
4 / 7739
|
43
|
(HPO:0006579)
|
Prolonged neonatal jaundice |
|
|
|
|
25 / 7739
|
44
|
(HPO:0007702)
|
Pigmentary retinal deposits |
|
|
|
|
5 / 7739
|
45
|
(HPO:0008659)
|
Multiple small medullary renal cysts |
|
|
|
|
4 / 7739
|
46
|
(HPO:0009882)
|
Short distal phalanx of finger |
|
|
|
|
125 / 7739
|
47
|
(OMIM)
|
Prominent zygomatic arch |
|
|
|
|
2 / 7739
|
48
|
(HPO:0000593)
|
Abnormality of the anterior chamber |
|
|
|
|
15 / 7739
|
49
|
(OMIM)
|
Eccentric or ectopic pupils |
|
|
|
|
2 / 7739
|
50
|
(OMIM)
|
Choroidal folds |
|
|
|
|
2 / 7739
|
51
|
(OMIM)
|
Anomalous optic disc |
|
|
|
|
2 / 7739
|
52
|
(OMIM)
|
Long nose with bulbous tip |
|
|
|
|
2 / 7739
|
53
|
(HPO:0001396)
|
Cholestasis |
|
|
|
|
136 / 7739
|
54
|
(OMIM)
|
Liver disease, progressive |
|
|
|
|
3 / 7739
|
55
|
(OMIM)
|
Extrahepatic duct involvement |
|
|
|
|
2 / 7739
|
56
|
(OMIM)
|
Renal involvement (in 39%) |
|
|
|
|
2 / 7739
|
57
|
(OMIM)
|
Echogenic kidneys |
|
|
|
|
2 / 7739
|
58
|
(OMIM)
|
Urinary obstruction |
|
|
|
|
3 / 7739
|
59
|
(OMIM)
|
Renal mesangiolipidosis |
|
|
|
|
2 / 7739
|
60
|
(HPO:0003468)
|
Abnormality of the vertebrae |
|
|
|
|
77 / 7739
|
61
|
(HPO:0000991)
|
Xanthomatosis |
|
|
|
|
16 / 7739
|
62
|
(HPO:0001039)
|
Atheroeruptive xanthoma |
|
|
|
|
9 / 7739
|
63
|
(HPO:0001114)
|
Xanthelasma |
|
|
|
|
13 / 7739
|
64
|
(MedDRA:10004685)
|
Bilirubin conjugated increased |
|
|
|
|
2 / 7739
|
65
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
66
|
(HPO:0003593)
|
Infantile onset |
|
|
|
|
249 / 7739
|
67
|
(HPO:0003829)
|
Incomplete penetrance |
|
|
|
|
85 / 7739
|