|
1
|
(HPO:0002024)
|
Malabsorption |
Frequent [Orphanet]
|
|
|
|
142 / 7739
|
|
2
|
(HPO:0003075)
|
Hypoproteinemia |
Frequent [Orphanet]
|
|
|
|
27 / 7739
|
|
3
|
(HPO:0004209)
|
Clinodactyly of the 5th finger |
Frequent [Orphanet]
|
|
|
|
288 / 7739
|
|
4
|
(HPO:0001892)
|
Abnormal bleeding |
|
|
|
|
85 / 7739
|
|
5
|
(HPO:0003010)
|
Prolonged bleeding time |
Occasional [Orphanet]
|
|
|
|
88 / 7739
|
|
6
|
(HPO:0000545)
|
Myopia |
Occasional [Orphanet]
|
|
|
|
286 / 7739
|
|
7
|
(HPO:0000954)
|
Single transverse palmar crease |
Very frequent [Orphanet]
|
|
|
|
162 / 7739
|
|
8
|
(HPO:0001004)
|
Lymphedema |
Very frequent [Orphanet]
|
|
|
|
62 / 7739
|
|
9
|
(HPO:0001006)
|
Hypotrichosis |
Very frequent [Orphanet]
|
|
|
|
219 / 7739
|
|
10
|
(HPO:0001888)
|
Lymphopenia |
Frequent [Orphanet]
|
|
|
|
43 / 7739
|
|
11
|
(HPO:0001362)
|
Calvarial skull defect |
Very frequent [Orphanet]
|
|
|
|
22 / 7739
|
|
12
|
(HPO:0000245)
|
Abnormality of the paranasal sinuses |
|
|
|
|
1 / 7739
|
|
13
|
(HPO:0002593)
|
Intestinal lymphangiectasia |
|
|
|
|
6 / 7739
|
|
14
|
(HPO:0004471)
|
Aplasia cutis congenita over the scalp vertex |
|
|
|
|
2 / 7739
|
|
15
|
(HPO:0007430)
|
Generalized edema |
|
|
|
|
5 / 7739
|
|
16
|
(OMIM)
|
Sagittal sinus bleeding |
|
|
|
|
1 / 7739
|
|
17
|
(OMIM)
|
Bony defect underlying ACC |
|
|
|
|
1 / 7739
|
|
18
|
(HPO:0010701)
|
Abnormal immunoglobulin level |
Frequent [Orphanet]
|
|
|
|
49 / 7739
|
|
19
|
(HPO:0000479)
|
Abnormality of the retina |
Occasional [Orphanet]
|
|
|
|
74 / 7739
|
|
20
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|