|
1
|
(HPO:0000023)
|
Inguinal hernia |
|
|
|
|
181 / 7739
|
|
2
|
(HPO:0000218)
|
High palate |
|
|
|
|
356 / 7739
|
|
3
|
(HPO:0000252)
|
Microcephaly |
|
|
|
|
832 / 7739
|
|
4
|
(HPO:0000316)
|
Hypertelorism |
|
|
|
|
644 / 7739
|
|
5
|
(HPO:0000347)
|
Micrognathia |
|
|
|
|
426 / 7739
|
|
6
|
(HPO:0000369)
|
Low-set ears |
|
|
|
|
372 / 7739
|
|
7
|
(HPO:0000377)
|
Abnormality of the pinna |
|
|
|
|
111 / 7739
|
|
8
|
(HPO:0000414)
|
Bulbous nose |
|
|
|
|
63 / 7739
|
|
9
|
(HPO:0000444)
|
Convex nasal ridge |
rare [HPO:skoehler]
|
|
|
|
87 / 7739
|
|
10
|
(HPO:0000494)
|
Downslanted palpebral fissures |
|
|
|
|
328 / 7739
|
|
11
|
(HPO:0000520)
|
Proptosis |
|
|
|
|
192 / 7739
|
|
12
|
(HPO:0000767)
|
Pectus excavatum |
|
|
|
|
244 / 7739
|
|
13
|
(HPO:0000776)
|
Congenital diaphragmatic hernia |
|
|
|
|
36 / 7739
|
|
14
|
(HPO:0000973)
|
Cutis laxa |
|
|
|
|
43 / 7739
|
|
15
|
(HPO:0000977)
|
Soft skin |
|
|
|
|
23 / 7739
|
|
16
|
(HPO:0001166)
|
Arachnodactyly |
|
|
|
|
62 / 7739
|
|
17
|
(HPO:0001382)
|
Joint hypermobility |
|
|
|
|
231 / 7739
|
|
18
|
(HPO:0001548)
|
Overgrowth |
rare [HPO:skoehler]
|
|
|
|
27 / 7739
|
|
19
|
(HPO:0001562)
|
Oligohydramnios |
rare [HPO:skoehler]
|
|
|
|
75 / 7739
|
|
20
|
(HPO:0001662)
|
Bradycardia |
rare [HPO:skoehler]
|
|
|
|
41 / 7739
|
|
21
|
(HPO:0001724)
|
Aortic dilatation |
|
|
|
|
24 / 7739
|
|
22
|
(HPO:0004942)
|
Aortic aneurysm |
|
|
|
|
10 / 7739
|
|
23
|
(HPO:0002097)
|
Emphysema |
|
|
|
|
40 / 7739
|
|
24
|
(HPO:0004927)
|
Pulmonary artery dilatation |
|
|
|
|
4 / 7739
|
|
25
|
(HPO:0004937)
|
Pulmonary artery aneurysm |
|
|
|
|
4 / 7739
|
|
26
|
(HPO:0004955)
|
Generalized arterial tortuosity |
|
|
|
|
7 / 7739
|
|
27
|
(HPO:0005116)
|
Arterial tortuosity |
|
|
|
|
4 / 7739
|
|
28
|
(HPO:0005280)
|
Depressed nasal bridge |
rare [HPO:skoehler]
|
|
|
|
381 / 7739
|
|
29
|
(HPO:0010444)
|
Pulmonary insufficiency |
|
|
|
|
11 / 7739
|
|
30
|
(HPO:0010759)
|
Prominence of the premaxilla |
|
|
|
|
5 / 7739
|
|
31
|
(HPO:0011220)
|
Prominent forehead |
|
|
|
|
137 / 7739
|
|
32
|
(OMIM)
|
Small palpebral fissures |
|
|
|
|
6 / 7739
|
|
33
|
(OMIM)
|
Hypertelorism, mild |
|
|
|
|
11 / 7739
|
|
34
|
(OMIM)
|
Thickened myocardium |
|
|
|
|
2 / 7739
|
|
35
|
(OMIM)
|
Arterial aneurysms, multiple |
|
|
|
|
1 / 7739
|
|
36
|
(OMIM)
|
Venous tortuosity |
|
|
|
|
1 / 7739
|
|
37
|
(OMIM)
|
Arterial stenoses, multiple |
|
|
|
|
1 / 7739
|
|
38
|
(MedDRA:10047073)
|
Vascular fragility |
|
|
|
|
1 / 7739
|
|
39
|
(OMIM)
|
Vascularization increased in upper dermis |
|
|
|
|
1 / 7739
|
|
40
|
(OMIM)
|
Hypoplastic diaphragm |
|
|
|
|
1 / 7739
|
|
41
|
(OMIM)
|
Joint hypermobility, generalized |
|
|
|
|
1 / 7739
|
|
42
|
(OMIM)
|
Fractures at birth |
|
|
|
|
3 / 7739
|
|
43
|
(OMIM)
|
Contractures of third to fifth fingers |
|
|
|
|
1 / 7739
|
|
44
|
(OMIM)
|
Normal scarring |
|
|
|
|
1 / 7739
|
|
45
|
(OMIM)
|
Collagen bundles smaller than normal |
|
|
|
|
1 / 7739
|
|
46
|
(OMIM)
|
Underdeveloped elastic fibers, severe |
|
|
|
|
1 / 7739
|
|
47
|
(HPO:0001252)
|
Muscular hypotonia |
|
|
|
|
990 / 7739
|
|
48
|
(HPO:0001324)
|
Muscle weakness |
|
|
|
|
859 / 7739
|
|
49
|
(HPO:0008947)
|
Infantile muscular hypotonia |
|
|
|
|
482 / 7739
|
|
50
|
(HPO:0010547)
|
Muscle flaccidity |
|
|
|
|
466 / 7739
|
|
51
|
(HPO:0001342)
|
Cerebral hemorrhage |
|
|
|
|
24 / 7739
|
|
52
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
53
|
(HPO:0045025)
|
Narrow palpebral fissure |
|
|
|
|
8 / 7739
|