|
1
|
(HPO:0002102)
|
Pleuritis |
|
|
|
|
7 / 7739
|
|
2
|
(HPO:0002103)
|
Abnormality of the pleura |
Very frequent [Orphanet]
|
|
|
|
58 / 7739
|
|
3
|
(HPO:0002202)
|
Pleural effusion |
|
|
|
|
22 / 7739
|
|
4
|
(HPO:0010310)
|
Chylothorax |
|
|
|
|
6 / 7739
|
|
5
|
(HPO:0002092)
|
Pulmonary hypertension |
Occasional [Orphanet]
|
|
|
|
109 / 7739
|
|
6
|
(HPO:0001541)
|
Ascites |
Frequent [Orphanet]
|
|
|
|
94 / 7739
|
|
7
|
(HPO:0006510)
|
Chronic obstructive pulmonary disease |
Frequent [Orphanet]
|
|
|
|
19 / 7739
|
|
8
|
(HPO:0002093)
|
Respiratory insufficiency |
Very frequent [Orphanet]
|
|
|
|
410 / 7739
|
|
9
|
(HPO:0001063)
|
Acrocyanosis |
Very frequent [Orphanet]
|
|
|
|
56 / 7739
|
|
10
|
(HPO:0001697)
|
Abnormality of the pericardium |
Frequent [Orphanet]
|
|
|
|
52 / 7739
|
|
11
|
(HPO:0001744)
|
Splenomegaly |
Occasional [Orphanet]
|
|
|
|
337 / 7739
|
|
12
|
(HPO:0001789)
|
Hydrops fetalis |
Frequent [Orphanet]
|
|
|
|
63 / 7739
|
|
13
|
(HPO:0002240)
|
Hepatomegaly |
Occasional [Orphanet]
|
|
|
|
467 / 7739
|
|
14
|
(HPO:0001635)
|
Congestive heart failure |
Frequent [Orphanet]
|
|
|
|
232 / 7739
|
|
15
|
(HPO:0000272)
|
Malar flattening |
|
|
|
|
277 / 7739
|
|
16
|
(HPO:0000316)
|
Hypertelorism |
|
|
|
|
644 / 7739
|
|
17
|
(HPO:0000431)
|
Wide nasal bridge |
|
|
|
|
290 / 7739
|
|
18
|
(HPO:0000767)
|
Pectus excavatum |
|
|
|
|
244 / 7739
|
|
19
|
(HPO:0001530)
|
Mild postnatal growth retardation |
|
|
|
|
7 / 7739
|
|
20
|
(HPO:0001561)
|
Polyhydramnios |
|
|
|
|
191 / 7739
|
|
21
|
(HPO:0001702)
|
Abnormality of the tricuspid valve |
Occasional [Orphanet]
|
|
|
|
32 / 7739
|
|
22
|
(HPO:0001790)
|
Nonimmune hydrops fetalis |
|
|
|
|
15 / 7739
|
|
23
|
(HPO:0002205)
|
Recurrent respiratory infections |
|
|
|
|
254 / 7739
|
|
24
|
(HPO:0005280)
|
Depressed nasal bridge |
|
|
|
|
381 / 7739
|
|
25
|
(HPO:0006521)
|
Pulmonary lymphangiectasia |
|
|
|
|
6 / 7739
|
|
26
|
(HPO:0006533)
|
Bronchodysplasia |
|
|
|
|
1 / 7739
|
|
27
|
(HPO:0010741)
|
Edema of the lower limbs |
|
|
|
|
34 / 7739
|
|
28
|
(HPO:0012281)
|
Chylous ascites |
|
|
|
|
2 / 7739
|
|
29
|
(HPO:0012368)
|
Flat face |
|
|
|
|
106 / 7739
|
|
30
|
(HPO:0100540)
|
Palpebral edema |
|
|
|
|
31 / 7739
|
|
31
|
(OMIM)
|
Growth retardation, mild |
|
|
|
|
2 / 7739
|
|
32
|
(HPO:0000282)
|
Facial edema |
|
|
|
|
5 / 7739
|
|
33
|
(OMIM)
|
Pulmonary lymphangiectasia, congenital |
|
|
|
|
1 / 7739
|
|
34
|
(OMIM)
|
Pleural effusions, chronic |
|
|
|
|
1 / 7739
|
|
35
|
(OMIM)
|
Interstitial markings on x-ray |
|
|
|
|
1 / 7739
|
|
36
|
(OMIM)
|
Pachypleuritis |
|
|
|
|
1 / 7739
|
|
37
|
(OMIM)
|
Pleural membrane thickening |
|
|
|
|
1 / 7739
|
|
38
|
(OMIM)
|
Bronchodysplasia, mild |
|
|
|
|
1 / 7739
|
|
39
|
(OMIM)
|
Bone demineralization, diffuse |
|
|
|
|
1 / 7739
|
|
40
|
(OMIM)
|
Edema, subcutaneous, generalized |
|
|
|
|
1 / 7739
|
|
41
|
(OMIM)
|
Edema is present at birth and then slowly decreases |
|
|
|
|
1 / 7739
|
|
42
|
(OMIM)
|
Edema of the face |
|
|
|
|
1 / 7739
|
|
43
|
(OMIM)
|
Edema reoccurs with infections |
|
|
|
|
1 / 7739
|
|
44
|
(OMIM)
|
Lymphangitis, episodic |
|
|
|
|
1 / 7739
|
|
45
|
(OMIM)
|
Normal intelligence |
|
|
|
|
81 / 7739
|
|
46
|
(HPO:0004414)
|
Abnormality of the pulmonary artery |
Occasional [Orphanet]
|
|
|
|
50 / 7739
|
|
47
|
([DEL]MedDRA:10011224)
|
Cough |
Frequent [Orphanet]
|
|
|
|
70 / 7739
|
|
48
|
(HPO:0002577)
|
Abnormality of the stomach |
Frequent [Orphanet]
|
|
|
|
84 / 7739
|
|
49
|
(HPO:0004325)
|
Decreased body weight |
Frequent [Orphanet]
|
|
|
|
492 / 7739
|
|
50
|
(HPO:0011420)
|
Death |
Very frequent [Orphanet]
|
|
|
|
184 / 7739
|
|
51
|
(HPO:0001522)
|
Death in infancy |
Frequent [Orphanet]
|
|
|
|
275 / 7739
|
|
52
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
53
|
(HPO:0003828)
|
Variable expressivity |
|
|
|
|
130 / 7739
|