1
|
(HPO:0000083)
|
Renal insufficiency |
Occasional [Orphanet]
|
|
|
|
232 / 7739
|
2
|
(HPO:0000112)
|
Nephropathy |
Occasional [Orphanet]
|
|
|
|
92 / 7739
|
3
|
(HPO:0000766)
|
Abnormality of the sternum |
Frequent [Orphanet]
|
|
|
|
31 / 7739
|
4
|
(HPO:0000772)
|
Abnormality of the ribs |
Very frequent [Orphanet]
|
|
|
|
146 / 7739
|
5
|
(HPO:0000774)
|
Narrow chest |
Very frequent [Orphanet]
|
|
|
|
167 / 7739
|
6
|
(HPO:0000944)
|
Abnormality of the metaphyses |
Frequent [Orphanet]
|
|
|
|
141 / 7739
|
7
|
(HPO:0001162)
|
Postaxial hand polydactyly |
Occasional [Orphanet]
|
|
|
|
119 / 7739
|
8
|
(HPO:0001770)
|
Toe syndactyly |
Occasional [Orphanet]
|
|
|
|
149 / 7739
|
9
|
(HPO:0001830)
|
Postaxial foot polydactyly |
Occasional [Orphanet]
|
|
|
|
37 / 7739
|
10
|
(HPO:0002093)
|
Respiratory insufficiency |
Frequent [Orphanet]
|
|
|
|
410 / 7739
|
11
|
(HPO:0002652)
|
Skeletal dysplasia |
Very frequent [Orphanet]
|
|
|
|
113 / 7739
|
12
|
(HPO:0002983)
|
Micromelia |
Very frequent [Orphanet]
|
|
|
|
130 / 7739
|
13
|
(HPO:0004322)
|
Short stature |
Occasional [Orphanet]
|
|
|
|
1232 / 7739
|
14
|
(HPO:0006703)
|
Aplasia/Hypoplasia of the lungs |
Occasional [Orphanet]
|
|
|
|
79 / 7739
|
15
|
(HPO:0000773)
|
Short ribs |
|
|
|
|
70 / 7739
|
16
|
(HPO:0000888)
|
Horizontal ribs |
|
|
|
|
12 / 7739
|
17
|
(HPO:0005257)
|
Thoracic hypoplasia |
Very frequent [Orphanet]
|
|
|
|
79 / 7739
|
18
|
(HPO:0010579)
|
Cone-shaped epiphysis |
Frequent [Orphanet]
|
|
|
|
54 / 7739
|
19
|
(HPO:0001396)
|
Cholestasis |
Occasional [Orphanet]
|
|
|
|
136 / 7739
|
20
|
(HPO:0002015)
|
Dysphagia |
Occasional [Orphanet]
|
|
|
|
301 / 7739
|
21
|
(HPO:0006660)
|
Aplastic clavicles |
Frequent [Orphanet]
|
|
|
|
70 / 7739
|
22
|
(HPO:0004279)
|
Short palm |
Frequent [Orphanet]
|
|
|
|
323 / 7739
|
23
|
(HPO:0000510)
|
Rod-cone dystrophy |
Occasional [Orphanet]
|
|
|
|
266 / 7739
|
24
|
(HPO:0011420)
|
Death |
Occasional [Orphanet]
|
|
|
|
184 / 7739
|
25
|
(HPO:0011867)
|
Abnormality of the wing of the ilium |
Very frequent [Orphanet]
|
|
|
|
123 / 7739
|
26
|
(HPO:0006494)
|
Aplasia/Hypoplasia involving bones of the feet |
Frequent [Orphanet]
|
|
|
|
69 / 7739
|
27
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
28
|
(HPO:0000093)
|
Proteinuria |
|
|
|
|
169 / 7739
|
29
|
(HPO:0000107)
|
Renal cyst |
|
|
|
|
126 / 7739
|
30
|
(HPO:0000546)
|
Retinal degeneration |
|
|
|
|
61 / 7739
|
31
|
(HPO:0000952)
|
Jaundice |
|
|
|
|
105 / 7739
|
32
|
(HPO:0001156)
|
Brachydactyly syndrome |
|
|
|
|
180 / 7739
|
33
|
(HPO:0001161)
|
Hand polydactyly |
|
|
|
|
71 / 7739
|
34
|
(HPO:0001395)
|
Hepatic fibrosis |
|
|
|
|
67 / 7739
|
35
|
(HPO:0001408)
|
Bile duct proliferation |
|
|
|
|
22 / 7739
|
36
|
(HPO:0001522)
|
Death in infancy |
Occasional [HPO:probinson]
|
|
|
|
275 / 7739
|
37
|
(HPO:0001737)
|
Pancreatic cysts |
|
|
|
|
15 / 7739
|
38
|
(HPO:0001829)
|
Foot polydactyly |
|
|
|
|
41 / 7739
|
39
|
(HPO:0002089)
|
Pulmonary hypoplasia |
|
|
|
|
80 / 7739
|
40
|
(HPO:0002205)
|
Recurrent respiratory infections |
|
|
|
|
254 / 7739
|
41
|
(HPO:0002866)
|
Hypoplastic iliac wing |
|
|
|
|
34 / 7739
|
42
|
(HPO:0002908)
|
Conjugated hyperbilirubinemia |
|
|
|
|
21 / 7739
|
43
|
(HPO:0003022)
|
Hypoplasia of the ulna |
|
|
|
|
40 / 7739
|
44
|
(HPO:0003025)
|
Metaphyseal irregularity |
|
|
|
|
42 / 7739
|
45
|
(HPO:0003038)
|
Fibular hypoplasia |
|
|
|
|
30 / 7739
|
46
|
(HPO:0003828)
|
Variable expressivity |
|
|
|
|
130 / 7739
|
47
|
(HPO:0006557)
|
Polycystic liver disease |
|
|
|
|
5 / 7739
|
48
|
(HPO:0006644)
|
Thoracic dysplasia |
|
|
|
|
12 / 7739
|
49
|
(HPO:0008797)
|
Early ossification of capital femoral epiphyses |
|
|
|
|
2 / 7739
|
50
|
(HPO:0008839)
|
Hypoplastic pelvis |
|
|
|
|
18 / 7739
|
51
|
(HPO:0009803)
|
Short phalanx of finger |
|
|
|
|
79 / 7739
|
52
|
(HPO:0010230)
|
Cone-shaped epiphyses of the phalanges of the hand |
|
|
|
|
34 / 7739
|
53
|
(HPO:0010444)
|
Pulmonary insufficiency |
|
|
|
|
11 / 7739
|
54
|
(HPO:0010582)
|
Irregular epiphyses |
|
|
|
|
19 / 7739
|
55
|
(HPO:0012622)
|
Chronic kidney disease |
|
|
|
|
32 / 7739
|
56
|
(HPO:0100732)
|
Pancreatic fibrosis |
|
|
|
|
12 / 7739
|