|
1
|
(HPO:0001636)
|
Tetralogy of Fallot |
Occasional [Orphanet]
|
|
|
|
104 / 7739
|
|
2
|
(HPO:0100819)
|
Intestinal fistula |
Occasional [Orphanet]
|
|
|
|
3 / 7739
|
|
3
|
(HPO:0200008)
|
Intestinal polyposis |
Very frequent [Orphanet]
|
|
|
|
23 / 7739
|
|
4
|
(HPO:0000316)
|
Hypertelorism |
Occasional [Orphanet]
|
|
|
|
644 / 7739
|
|
5
|
(HPO:0001631)
|
Atria septal defect |
Occasional [Orphanet]
|
|
|
|
274 / 7739
|
|
6
|
(HPO:0004378)
|
Abnormality of the anus |
Very frequent [Orphanet]
|
|
|
|
34 / 7739
|
|
7
|
(HPO:0004325)
|
Decreased body weight |
Occasional [Orphanet]
|
|
|
|
492 / 7739
|
|
8
|
(HPO:0002577)
|
Abnormality of the stomach |
Occasional [Orphanet]
|
|
|
|
84 / 7739
|
|
9
|
(HPO:0002239)
|
Gastrointestinal hemorrhage |
Very frequent [Orphanet]
|
|
|
|
97 / 7739
|
|
10
|
(HPO:0012303)
|
Abnormality of the aortic arch |
Occasional [Orphanet]
|
|
|
|
57 / 7739
|
|
11
|
(HPO:0000256)
|
Macrocephaly |
Occasional [Orphanet]
|
|
|
|
298 / 7739
|
|
12
|
(HPO:0002250)
|
Abnormality of the large intestine |
Very frequent [Orphanet]
|
|
|
|
32 / 7739
|
|
13
|
(HPO:0002894)
|
Neoplasm of the pancreas |
Occasional [Orphanet]
|
|
|
|
17 / 7739
|
|
14
|
(HPO:0001829)
|
Foot polydactyly |
Occasional [Orphanet]
|
|
|
|
41 / 7739
|
|
15
|
(HPO:0000035)
|
Abnormality of the testis |
Occasional [Orphanet]
|
|
|
|
296 / 7739
|
|
16
|
(HPO:0001903)
|
Anemia |
Frequent [Orphanet]
common [HPO]
|
|
|
|
289 / 7739
|
|
17
|
(HPO:0100585)
|
Telangiectasia of the skin |
Occasional [Orphanet]
|
|
|
|
66 / 7739
|
|
18
|
(HPO:0000077)
|
Abnormality of the kidney |
Occasional [Orphanet]
|
|
|
|
73 / 7739
|
|
19
|
(HPO:0000130)
|
Abnormality of the uterus |
Occasional [Orphanet]
|
|
|
|
86 / 7739
|
|
20
|
(HPO:0100273)
|
Neoplasm of the colon |
Frequent [Orphanet]
|
|
|
|
18 / 7739
|
|
21
|
(HPO:0001004)
|
Lymphedema |
Occasional [Orphanet]
|
|
|
|
62 / 7739
|
|
22
|
(HPO:0001334)
|
Communicating hydrocephalus |
Occasional [Orphanet]
|
|
|
|
32 / 7739
|
|
23
|
(HPO:0001643)
|
Patent ductus arteriosus |
Occasional [Orphanet]
|
|
|
|
228 / 7739
|
|
24
|
(HPO:0000924)
|
Abnormality of the skeletal system |
Occasional [Orphanet]
|
|
|
|
114 / 7739
|
|
25
|
(HPO:0002024)
|
Malabsorption |
Very frequent [Orphanet]
|
|
|
|
142 / 7739
|
|
26
|
(HPO:0001052)
|
Nevus flammeus |
Occasional [Orphanet]
|
|
|
|
88 / 7739
|
|
27
|
(HPO:0004414)
|
Abnormality of the pulmonary artery |
Occasional [Orphanet]
|
|
|
|
50 / 7739
|
|
28
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
29
|
(HPO:0001217)
|
Clubbing |
occasional [HPO]
|
|
|
|
39 / 7739
|
|
30
|
(HPO:0001508)
|
Failure to thrive |
frequent [HPO]
|
|
|
|
454 / 7739
|
|
31
|
(HPO:0002014)
|
Diarrhea |
common [HPO]
|
|
|
|
225 / 7739
|
|
32
|
(HPO:0002027)
|
Abdominal pain |
common [HPO]
|
|
|
|
184 / 7739
|
|
33
|
(HPO:0002035)
|
Rectal prolapse |
occasional [HPO]
|
|
|
|
11 / 7739
|
|
34
|
(HPO:0002573)
|
Hematochezia |
occasional [HPO]
|
|
|
|
18 / 7739
|
|
35
|
(HPO:0002576)
|
Intussusception |
occasional [HPO]
|
|
|
|
10 / 7739
|
|
36
|
(HPO:0002900)
|
Hypokalemia |
|
|
|
|
45 / 7739
|
|
37
|
(HPO:0003003)
|
Colon cancer |
20% [HPO]
|
|
|
|
20 / 7739
|
|
38
|
(HPO:0003073)
|
Hypoalbuminemia |
|
|
|
|
40 / 7739
|
|
39
|
(HPO:0004394)
|
Multiple gastric polyps |
common [HPO]
|
|
|
|
9 / 7739
|
|
40
|
(HPO:0006771)
|
Duodenal adenocarcinoma |
occasional [HPO]
|
|
|
|
3 / 7739
|