|
1
|
(HPO:0200042)
|
Skin ulcer |
Occasional [Orphanet]
|
|
|
|
138 / 7739
|
|
2
|
(HPO:0001970)
|
Tubulointerstitial nephritis |
Occasional [Orphanet]
|
|
|
|
27 / 7739
|
|
3
|
(HPO:0002619)
|
Varicose veins |
|
|
|
|
11 / 7739
|
|
4
|
(HPO:0005293)
|
Venous insufficiency |
Frequent [Orphanet]
|
|
|
|
27 / 7739
|
|
5
|
(HPO:0001324)
|
Muscle weakness |
Frequent [Orphanet]
|
|
|
|
859 / 7739
|
|
6
|
(HPO:0000465)
|
Webbed neck |
Occasional [Orphanet]
|
|
|
|
81 / 7739
|
|
7
|
(HPO:0000613)
|
Photophobia |
Very frequent [Orphanet]
|
|
|
|
158 / 7739
|
|
8
|
(HPO:0000202)
|
Oral cleft |
Occasional [Orphanet]
|
|
|
|
120 / 7739
|
|
9
|
(HPO:0009743)
|
Distichiasis |
Very frequent [Orphanet]
|
|
|
|
9 / 7739
|
|
10
|
(HPO:0100835)
|
Benign neoplasm of the central nervous system |
Occasional [Orphanet]
|
|
|
|
12 / 7739
|
|
11
|
(HPO:0000495)
|
Recurrent corneal erosions |
|
|
|
|
20 / 7739
|
|
12
|
(HPO:0000093)
|
Proteinuria |
Occasional [Orphanet]
|
|
|
|
169 / 7739
|
|
13
|
(HPO:0030680)
|
Abnormality of cardiovascular system morphology |
Occasional [Orphanet]
|
|
|
|
355 / 7739
|
|
14
|
(HPO:0011675)
|
Arrhythmia |
Occasional [Orphanet]
|
|
|
|
226 / 7739
|
|
15
|
(HPO:0000819)
|
Diabetes mellitus |
Occasional [Orphanet]
|
|
|
|
131 / 7739
|
|
16
|
(HPO:0000518)
|
Cataract |
Frequent [Orphanet]
|
|
|
|
454 / 7739
|
|
17
|
(HPO:0000509)
|
Conjunctivitis |
|
|
|
|
47 / 7739
|
|
18
|
(HPO:0000508)
|
Ptosis |
Frequent [Orphanet]
|
|
|
|
459 / 7739
|
|
19
|
(HPO:0001004)
|
Lymphedema |
Very frequent [Orphanet]
|
|
|
|
62 / 7739
|
|
20
|
(HPO:0011718)
|
Abnormality of the pulmonary veins |
Occasional [Orphanet]
|
|
|
|
6 / 7739
|
|
21
|
(HPO:0000075)
|
Renal duplication |
Occasional [Orphanet]
|
|
|
|
5 / 7739
|
|
22
|
(HPO:0001643)
|
Patent ductus arteriosus |
Occasional [Orphanet]
|
|
|
|
228 / 7739
|
|
23
|
(HPO:0000010)
|
Recurrent urinary tract infections |
Occasional [Orphanet]
|
|
|
|
56 / 7739
|
|
24
|
(HPO:0100820)
|
Glomerulopathy |
Occasional [Orphanet]
|
|
|
|
46 / 7739
|
|
25
|
(HPO:0000175)
|
Cleft palate |
4 % [HPO:probinson]
|
|
|
|
349 / 7739
|
|
26
|
(HPO:0000204)
|
Cleft upper lip |
4 % [HPO:probinson]
|
|
|
|
193 / 7739
|
|
27
|
(HPO:0001629)
|
Ventricular septal defect |
|
|
|
|
316 / 7739
|
|
28
|
(HPO:0001636)
|
Tetralogy of Fallot |
|
|
|
|
104 / 7739
|
|
29
|
(HPO:0003011)
|
Abnormality of the musculature |
|
|
|
|
47 / 7739
|
|
30
|
(HPO:0003550)
|
Predominantly lower limb lymphedema |
|
|
|
|
5 / 7739
|
|
31
|
(OMIM)
|
Accessory eyelashes |
|
|
|
|
1 / 7739
|
|
32
|
(MedDRA:10056476)
|
Corneal irritation |
|
|
|
|
1 / 7739
|
|
33
|
(OMIM)
|
Styes |
|
|
|
|
1 / 7739
|
|
34
|
(HPO:0100335)
|
Non-midline cleft lip |
|
|
|
|
12 / 7739
|
|
35
|
(OMIM)
|
Spinal extradural cysts may occur |
|
|
|
|
1 / 7739
|
|
36
|
(OMIM)
|
Lymphedema, predominantly in the lower limbs |
|
|
|
|
4 / 7739
|
|
37
|
(OMIM)
|
Onset occurs earlier in males than females |
|
|
|
|
1 / 7739
|
|
38
|
(OMIM)
|
Cellulitis or infection may occur |
|
|
|
|
1 / 7739
|
|
39
|
(OMIM)
|
Lymphography shows increased number of dilated lymphatic vessels (hyperplasia) |
|
|
|
|
1 / 7739
|
|
40
|
(HPO:0100533)
|
Inflammatory abnormality of the eye |
Very frequent [Orphanet]
|
|
|
|
70 / 7739
|
|
41
|
(HPO:0030448)
|
Soft tissue sarcoma |
Occasional [Orphanet]
|
|
|
|
18 / 7739
|
|
42
|
(HPO:0000481)
|
Abnormality of the cornea |
Very frequent [Orphanet]
|
|
|
|
124 / 7739
|
|
43
|
(HPO:0000492)
|
Abnormality of the eyelid |
Frequent [Orphanet]
|
|
|
|
41 / 7739
|
|
44
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
45
|
(HPO:0012804)
|
Corneal ulceration |
|
|
|
|
6 / 7739
|