|
1
|
(HPO:0001004)
|
Lymphedema |
Very frequent [Orphanet]
|
|
|
|
62 / 7739
|
|
2
|
(HPO:0002664)
|
Neoplasm |
Occasional [Orphanet]
|
|
|
|
111 / 7739
|
|
3
|
(HPO:0001541)
|
Ascites |
Very frequent [Orphanet]
|
|
|
|
94 / 7739
|
|
4
|
(HPO:0000501)
|
Glaucoma |
Occasional [Orphanet]
|
|
|
|
180 / 7739
|
|
5
|
(HPO:0002250)
|
Abnormality of the large intestine |
Occasional [Orphanet]
|
|
|
|
32 / 7739
|
|
6
|
(HPO:0001733)
|
Pancreatitis |
Occasional [Orphanet]
|
|
|
|
46 / 7739
|
|
7
|
(HPO:0012281)
|
Chylous ascites |
|
|
|
|
2 / 7739
|
|
8
|
(OMIM)
|
Arm swelling |
|
|
|
|
1 / 7739
|
|
9
|
(OMIM)
|
Bilateral glaucoma |
|
|
|
|
1 / 7739
|
|
10
|
(OMIM)
|
Chylous ascites, congenital |
|
|
|
|
1 / 7739
|
|
11
|
(HPO:0001031)
|
Subcutaneous lipoma |
Frequent [Orphanet]
|
|
|
|
112 / 7739
|
|
12
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|