|
1
|
(HPO:0000010)
|
Recurrent urinary tract infections |
Very frequent [Orphanet]
|
|
|
|
56 / 7739
|
|
2
|
(HPO:0000015)
|
Bladder diverticulum |
Very frequent [Orphanet]
|
|
|
|
15 / 7739
|
|
3
|
(HPO:0000076)
|
Vesicoureteral reflux |
Occasional [Orphanet]
|
|
|
|
94 / 7739
|
|
4
|
(HPO:0000293)
|
Full cheeks |
Frequent [Orphanet]
|
|
|
|
85 / 7739
|
|
5
|
(HPO:0000508)
|
Ptosis |
Frequent [Orphanet]
|
|
|
|
459 / 7739
|
|
6
|
(HPO:0000821)
|
Hypothyroidism |
Occasional [Orphanet]
|
|
|
|
141 / 7739
|
|
7
|
(HPO:0001582)
|
Redundant skin |
Very frequent [Orphanet]
|
|
|
|
51 / 7739
|
|
8
|
(HPO:0001382)
|
Joint hypermobility |
Frequent [Orphanet]
|
|
|
|
231 / 7739
|
|
9
|
(HPO:0001388)
|
Joint laxity |
|
|
|
|
117 / 7739
|
|
10
|
(HPO:0001635)
|
Congestive heart failure |
Occasional [Orphanet]
|
|
|
|
232 / 7739
|
|
11
|
(HPO:0002093)
|
Respiratory insufficiency |
Occasional [Orphanet]
|
|
|
|
410 / 7739
|
|
12
|
(HPO:0002097)
|
Emphysema |
Very frequent [Orphanet]
|
|
|
|
40 / 7739
|
|
13
|
(HPO:0002617)
|
Aneurysm |
Frequent [Orphanet]
|
|
|
|
34 / 7739
|
|
14
|
(HPO:0002645)
|
Wormian bones |
Occasional [Orphanet]
|
|
|
|
65 / 7739
|
|
15
|
(HPO:0004299)
|
Hernia of the abdominal wall |
Frequent [Orphanet]
|
|
|
|
176 / 7739
|
|
16
|
(HPO:0004349)
|
Reduced bone mineral density |
Occasional [Orphanet]
|
|
|
|
165 / 7739
|
|
17
|
(HPO:0004414)
|
Abnormality of the pulmonary artery |
Occasional [Orphanet]
|
|
|
|
50 / 7739
|
|
18
|
(HPO:0005214)
|
Intestinal obstruction |
Frequent [Orphanet]
|
|
|
|
35 / 7739
|
|
19
|
(HPO:0002256)
|
Small bowel diverticula |
Occasional [Orphanet]
|
|
|
|
6 / 7739
|
|
20
|
(HPO:0007495)
|
Prematurely aged appearance |
Very frequent [Orphanet]
|
|
|
|
44 / 7739
|
|
21
|
(HPO:0011675)
|
Arrhythmia |
Occasional [Orphanet]
|
|
|
|
226 / 7739
|
|
22
|
(HPO:0100545)
|
Arterial stenosis |
Frequent [Orphanet]
|
|
|
|
22 / 7739
|
|
23
|
(HPO:0100750)
|
Atelectasis |
Very frequent [Orphanet]
|
|
|
|
17 / 7739
|
|
24
|
(HPO:0002616)
|
Aortic root dilatation |
Frequent [Orphanet]
|
|
|
|
27 / 7739
|
|
25
|
(HPO:0000239)
|
Large fontanelles |
Frequent [Orphanet]
|
|
|
|
135 / 7739
|
|
26
|
(HPO:0002659)
|
Increased susceptibility to fractures |
Occasional [Orphanet]
|
|
|
|
110 / 7739
|
|
27
|
(HPO:0011302)
|
Long palm |
Occasional [Orphanet]
|
|
|
|
70 / 7739
|
|
28
|
(HPO:0000775)
|
Abnormality of the diaphragm |
Very frequent [Orphanet]
|
|
|
|
62 / 7739
|
|
29
|
(HPO:0001522)
|
Death in infancy |
Occasional [Orphanet]
|
|
|
|
275 / 7739
|
|
30
|
(HPO:0011442)
|
Abnormality of central motor function |
Occasional [Orphanet]
|
|
|
|
76 / 7739
|
|
31
|
(HPO:0001626)
|
Abnormality of the cardiovascular system |
Very frequent [Orphanet]
|
|
|
|
73 / 7739
|
|
32
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
33
|
(HPO:0000023)
|
Inguinal hernia |
|
|
|
|
181 / 7739
|
|
34
|
(HPO:0000252)
|
Microcephaly |
|
|
|
|
832 / 7739
|
|
35
|
(HPO:0000271)
|
Abnormality of the face |
|
|
|
|
108 / 7739
|
|
36
|
(HPO:0000767)
|
Pectus excavatum |
|
|
|
|
244 / 7739
|
|
37
|
(HPO:0000776)
|
Congenital diaphragmatic hernia |
|
|
|
|
36 / 7739
|
|
38
|
(HPO:0001166)
|
Arachnodactyly |
|
|
|
|
62 / 7739
|
|
39
|
(HPO:0001425)
|
Heterogeneous |
|
|
|
|
132 / 7739
|
|
40
|
(HPO:0001537)
|
Umbilical hernia |
|
|
|
|
206 / 7739
|
|
41
|
(HPO:0001548)
|
Overgrowth |
|
|
|
|
27 / 7739
|
|
42
|
(HPO:0001562)
|
Oligohydramnios |
|
|
|
|
75 / 7739
|
|
43
|
(HPO:0002205)
|
Recurrent respiratory infections |
|
|
|
|
254 / 7739
|
|
44
|
(HPO:0002631)
|
Ascending aortic aneurysm |
|
|
|
|
9 / 7739
|
|
45
|
(HPO:0004381)
|
Supravalvular aortic stenosis |
|
|
|
|
6 / 7739
|
|
46
|
(HPO:0004948)
|
Vascular tortuosity |
|
|
|
|
5 / 7739
|