|
1
|
(HPO:0002024)
|
Malabsorption |
Very frequent [Orphanet]
|
|
|
|
142 / 7739
|
|
2
|
(HPO:0000572)
|
Visual loss |
Occasional [Orphanet]
|
|
|
|
272 / 7739
|
|
3
|
(HPO:0002103)
|
Abnormality of the pleura |
Occasional [Orphanet]
|
|
|
|
58 / 7739
|
|
4
|
(HPO:0004313)
|
Decreased antibody level in blood |
|
|
|
|
47 / 7739
|
|
5
|
(HPO:0002664)
|
Neoplasm |
Occasional [Orphanet]
|
|
|
|
111 / 7739
|
|
6
|
(HPO:0002754)
|
Osteomyelitis |
Occasional [Orphanet]
|
|
|
|
37 / 7739
|
|
7
|
(HPO:0001541)
|
Ascites |
Occasional [Orphanet]
|
|
|
|
94 / 7739
|
|
8
|
(HPO:0002901)
|
Hypocalcemia |
Frequent [Orphanet]
|
|
|
|
56 / 7739
|
|
9
|
(HPO:0200042)
|
Skin ulcer |
Frequent [Orphanet]
|
|
|
|
138 / 7739
|
|
10
|
(HPO:0001072)
|
Thickened skin |
Occasional [Orphanet]
|
|
|
|
87 / 7739
|
|
11
|
(HPO:0100326)
|
Immunologic hypersensitivity |
Frequent [Orphanet]
|
|
|
|
28 / 7739
|
|
12
|
(HPO:0001697)
|
Abnormality of the pericardium |
Occasional [Orphanet]
|
|
|
|
52 / 7739
|
|
13
|
(HPO:0000772)
|
Abnormality of the ribs |
Frequent [Orphanet]
|
|
|
|
146 / 7739
|
|
14
|
(HPO:0100763)
|
Abnormality of the lymphatic system |
Very frequent [Orphanet]
|
|
|
|
18 / 7739
|
|
15
|
(HPO:0200037)
|
Skin vesicle |
Frequent [Orphanet]
|
|
|
|
102 / 7739
|
|
16
|
(HPO:0010741)
|
Edema of the lower limbs |
Very frequent [Orphanet]
|
|
|
|
34 / 7739
|
|
17
|
(HPO:0001888)
|
Lymphopenia |
Very frequent [Orphanet]
|
|
|
|
43 / 7739
|
|
18
|
(HPO:0001595)
|
Abnormality of the hair |
|
|
|
|
89 / 7739
|
|
19
|
(HPO:0002593)
|
Intestinal lymphangiectasia |
|
|
|
|
6 / 7739
|
|
20
|
(HPO:0004315)
|
IgG deficiency |
|
|
|
|
38 / 7739
|
|
21
|
(HPO:0006641)
|
Prominent floating ribs |
|
|
|
|
2 / 7739
|
|
22
|
(HPO:0008360)
|
Neonatal hypoproteinemia |
|
|
|
|
2 / 7739
|
|
23
|
(OMIM)
|
Double hair whorl |
|
|
|
|
2 / 7739
|
|
24
|
(OMIM)
|
Skin anergy |
|
|
|
|
2 / 7739
|
|
25
|
(OMIM)
|
Impaired allograft rejection |
|
|
|
|
2 / 7739
|
|
26
|
(OMIM)
|
Impaired in vitro blastic transformation ofperipheral blood lymphocytes |
|
|
|
|
2 / 7739
|
|
27
|
(OMIM)
|
Leg ulcers in males |
|
|
|
|
2 / 7739
|
|
28
|
(OMIM)
|
Dysproteinemia of variable type |
|
|
|
|
2 / 7739
|
|
29
|
(OMIM)
|
Dilated lymphatic spaces and partial villous atrophy of small bowel |
|
|
|
|
2 / 7739
|
|
30
|
(OMIM)
|
Intestinal protein loss |
|
|
|
|
2 / 7739
|
|
31
|
(HPO:0004325)
|
Decreased body weight |
Frequent [Orphanet]
|
|
|
|
492 / 7739
|
|
32
|
(HPO:0010701)
|
Abnormal immunoglobulin level |
Very frequent [Orphanet]
|
|
|
|
49 / 7739
|
|
33
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
34
|
(HPO:0003826)
|
Stillbirth |
|
|
|
|
40 / 7739
|