|
1
|
(HPO:0000629)
|
Periorbital fullness |
|
|
|
|
13 / 7739
|
|
2
|
(HPO:0100539)
|
Periorbital edema |
|
|
|
|
8 / 7739
|
|
3
|
(HPO:0100540)
|
Palpebral edema |
|
|
|
|
31 / 7739
|
|
4
|
(HPO:0002103)
|
Abnormality of the pleura |
Occasional [Orphanet]
|
|
|
|
58 / 7739
|
|
5
|
(HPO:0100764)
|
Lymphangioma |
Very frequent [Orphanet]
|
|
|
|
11 / 7739
|
|
6
|
(HPO:0001596)
|
Alopecia |
Very frequent [Orphanet]
|
|
|
|
162 / 7739
|
|
7
|
(HPO:0001052)
|
Nevus flammeus |
Occasional [Orphanet]
|
|
|
|
88 / 7739
|
|
8
|
(HPO:0001009)
|
Telangiectasia |
|
|
|
|
46 / 7739
|
|
9
|
(HPO:0100585)
|
Telangiectasia of the skin |
Very frequent [Orphanet]
|
|
|
|
66 / 7739
|
|
10
|
(HPO:0001789)
|
Hydrops fetalis |
Occasional [Orphanet]
|
|
|
|
63 / 7739
|
|
11
|
(HPO:0005293)
|
Venous insufficiency |
Frequent [Orphanet]
|
|
|
|
27 / 7739
|
|
12
|
(HPO:0010741)
|
Edema of the lower limbs |
Very frequent [Orphanet]
|
|
|
|
34 / 7739
|
|
13
|
(HPO:0001004)
|
Lymphedema |
Very frequent [Orphanet]
|
|
|
|
62 / 7739
|
|
14
|
(HPO:0001006)
|
Hypotrichosis |
Very frequent [Orphanet]
|
|
|
|
219 / 7739
|
|
15
|
(HPO:0002223)
|
Absent eyebrow |
|
|
|
|
21 / 7739
|
|
16
|
(HPO:0000965)
|
Cutis marmorata |
Frequent [Orphanet]
|
|
|
|
46 / 7739
|
|
17
|
(HPO:0000034)
|
Hydrocele testis |
|
|
|
|
18 / 7739
|
|
18
|
(HPO:0100673)
|
Vaginal hydrocele |
|
|
|
|
8 / 7739
|
|
19
|
(HPO:0002225)
|
Sparse pubic hair |
Very frequent [Orphanet]
|
|
|
|
76 / 7739
|
|
20
|
(HPO:0000164)
|
Abnormality of the teeth |
|
|
|
|
291 / 7739
|
|
21
|
(HPO:0000561)
|
Absent eyelashes |
|
|
|
|
18 / 7739
|
|
22
|
(HPO:0000963)
|
Thin skin |
|
|
|
|
96 / 7739
|
|
23
|
(HPO:0001597)
|
Abnormality of the nail |
|
|
|
|
115 / 7739
|
|
24
|
(HPO:0001790)
|
Nonimmune hydrops fetalis |
|
|
|
|
15 / 7739
|
|
25
|
(HPO:0002585)
|
Abnormality of the peritoneum |
Occasional [Orphanet]
|
|
|
|
9 / 7739
|
|
26
|
(HPO:0003550)
|
Predominantly lower limb lymphedema |
|
|
|
|
5 / 7739
|
|
27
|
(HPO:0100840)
|
Aplasia/Hypoplasia of the eyebrow |
Very frequent [Orphanet]
|
|
|
|
117 / 7739
|
|
28
|
(HPO:0100869)
|
Palmar telangiectasia |
|
|
|
|
3 / 7739
|
|
29
|
(OMIM)
|
Normal teeth |
|
|
|
|
15 / 7739
|
|
30
|
(OMIM)
|
Scrotal edema |
|
|
|
|
1 / 7739
|
|
31
|
(OMIM)
|
Normal sweating |
|
|
|
|
13 / 7739
|
|
32
|
(OMIM)
|
Thin, transparent skin (hands and feet) |
|
|
|
|
1 / 7739
|
|
33
|
(OMIM)
|
Lower limb lymphedema (variable onset, age four to teens) |
|
|
|
|
1 / 7739
|
|
34
|
(OMIM)
|
Normal nails |
|
|
|
|
15 / 7739
|
|
35
|
(OMIM)
|
Normal scalp hair at birth, then progressive hair loss |
|
|
|
|
1 / 7739
|
|
36
|
(OMIM)
|
Absent eyebrows and eyelashes |
|
|
|
|
2 / 7739
|
|
37
|
(HPO:0000606)
|
Abnormality of the periorbital region |
Frequent [Orphanet]
|
|
|
|
96 / 7739
|
|
38
|
(HPO:0030350)
|
Erythematous papule |
Frequent [Orphanet]
|
|
|
|
123 / 7739
|
|
39
|
(HPO:0000045)
|
Abnormality of the scrotum |
Frequent [Orphanet]
|
|
|
|
14 / 7739
|
|
40
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
41
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|