1
|
(HPO:0000083)
|
Renal insufficiency |
|
|
|
|
232 / 7739
|
2
|
(HPO:0000093)
|
Proteinuria |
|
|
|
|
169 / 7739
|
3
|
(HPO:0000546)
|
Retinal degeneration |
|
|
|
|
61 / 7739
|
4
|
(HPO:0000952)
|
Jaundice |
|
|
|
|
105 / 7739
|
5
|
(HPO:0001395)
|
Hepatic fibrosis |
|
|
|
|
67 / 7739
|
6
|
(HPO:0001408)
|
Bile duct proliferation |
|
|
|
|
22 / 7739
|
7
|
(HPO:0001737)
|
Pancreatic cysts |
|
|
|
|
15 / 7739
|
8
|
(HPO:0002089)
|
Pulmonary hypoplasia |
|
|
|
|
80 / 7739
|
9
|
(HPO:0002205)
|
Recurrent respiratory infections |
|
|
|
|
254 / 7739
|
10
|
(HPO:0002866)
|
Hypoplastic iliac wing |
|
|
|
|
34 / 7739
|
11
|
(HPO:0002908)
|
Conjugated hyperbilirubinemia |
|
|
|
|
21 / 7739
|
12
|
(HPO:0003025)
|
Metaphyseal irregularity |
|
|
|
|
42 / 7739
|
13
|
(HPO:0004322)
|
Short stature |
|
|
|
|
1232 / 7739
|
14
|
(HPO:0006557)
|
Polycystic liver disease |
|
|
|
|
5 / 7739
|
15
|
(HPO:0008797)
|
Early ossification of capital femoral epiphyses |
|
|
|
|
2 / 7739
|
16
|
(HPO:0008839)
|
Hypoplastic pelvis |
|
|
|
|
18 / 7739
|
17
|
(HPO:0009803)
|
Short phalanx of finger |
|
|
|
|
79 / 7739
|
18
|
(HPO:0010230)
|
Cone-shaped epiphyses of the phalanges of the hand |
|
|
|
|
34 / 7739
|
19
|
(HPO:0010444)
|
Pulmonary insufficiency |
|
|
|
|
11 / 7739
|
20
|
(HPO:0010582)
|
Irregular epiphyses |
|
|
|
|
19 / 7739
|
21
|
(HPO:0100732)
|
Pancreatic fibrosis |
|
|
|
|
12 / 7739
|
22
|
(OMIM)
|
Long, narrow thorax |
|
|
|
|
1 / 7739
|
23
|
(OMIM)
|
Short, horizontal ribs |
|
|
|
|
4 / 7739
|
24
|
(OMIM)
|
Bulbous, irregular rib ends |
|
|
|
|
1 / 7739
|
25
|
(OMIM)
|
Handlebar clavicles |
|
|
|
|
3 / 7739
|
26
|
(OMIM)
|
Chronic nephritis |
|
|
|
|
2 / 7739
|
27
|
(HPO:0000113)
|
Polycystic kidney dysplasia |
|
|
|
|
75 / 7739
|
28
|
(HPO:0000800)
|
Cystic renal dysplasia |
|
|
|
|
31 / 7739
|
29
|
(OMIM)
|
Lacunar skull |
|
|
|
|
1 / 7739
|
30
|
(OMIM)
|
Trident acetabular roofs |
|
|
|
|
2 / 7739
|
31
|
(OMIM)
|
Sciatic notch spur |
|
|
|
|
1 / 7739
|
32
|
(HPO:0003951)
|
Distal humeral metaphyseal irregularity |
|
|
|
|
1 / 7739
|
33
|
(OMIM)
|
Ulnae, relatively short (childhood) |
|
|
|
|
1 / 7739
|
34
|
(HPO:0003026)
|
Short long bone |
|
|
|
|
51 / 7739
|
35
|
(OMIM)
|
Fibulae, relatively short (childhood) |
|
|
|
|
1 / 7739
|
36
|
(HPO:0010579)
|
Cone-shaped epiphysis |
|
|
|
|
54 / 7739
|
37
|
(HPO:0010442)
|
Polydactyly |
|
|
|
|
69 / 7739
|
38
|
(MedDRA:10072883)
|
Brachydactyly |
|
|
|
|
153 / 7739
|