1
|
(HPO:0001637)
|
Abnormality of the myocardium |
Occasional [Orphanet]
|
|
|
|
76 / 7739
|
2
|
(HPO:0001638)
|
Cardiomyopathy |
Occasional [Orphanet]
|
|
|
|
192 / 7739
|
3
|
(HPO:0001582)
|
Redundant skin |
Occasional [Orphanet]
|
|
|
|
51 / 7739
|
4
|
(HPO:0004415)
|
Pulmonary artery stenosis |
|
|
|
|
25 / 7739
|
5
|
(HPO:0001252)
|
Muscular hypotonia |
Occasional [Orphanet]
rare [HPO:skoehler]
|
|
|
|
990 / 7739
|
6
|
(HPO:0001324)
|
Muscle weakness |
Occasional [Orphanet]
|
|
|
|
859 / 7739
|
7
|
(HPO:0002036)
|
Hiatus hernia |
|
|
|
|
24 / 7739
|
8
|
(HPO:0000951)
|
Abnormality of the skin |
Frequent [Orphanet]
|
|
|
|
147 / 7739
|
9
|
(HPO:0000276)
|
Long face |
Occasional [Orphanet]
|
|
|
|
109 / 7739
|
10
|
(HPO:0000581)
|
Blepharophimosis |
Occasional [Orphanet]
|
|
|
|
197 / 7739
|
11
|
(HPO:0002093)
|
Respiratory insufficiency |
Occasional [Orphanet]
|
|
|
|
410 / 7739
|
12
|
(HPO:0100585)
|
Telangiectasia of the skin |
Very frequent [Orphanet]
|
|
|
|
66 / 7739
|
13
|
(HPO:0000563)
|
Keratoconus |
rare [HPO:skoehler]
|
|
|
|
25 / 7739
|
14
|
(HPO:0100545)
|
Arterial stenosis |
Very frequent [Orphanet]
|
|
|
|
22 / 7739
|
15
|
(HPO:0005344)
|
Abnormality of the carotid arteries |
Very frequent [Orphanet]
|
|
|
|
6 / 7739
|
16
|
(HPO:0000272)
|
Malar flattening |
Occasional [Orphanet]
|
|
|
|
277 / 7739
|
17
|
(HPO:0000545)
|
Myopia |
Occasional [Orphanet]
|
|
|
|
286 / 7739
|
18
|
(HPO:0001838)
|
Rocker bottom foot |
Occasional [Orphanet]
|
|
|
|
85 / 7739
|
19
|
(HPO:0000023)
|
Inguinal hernia |
|
|
|
|
181 / 7739
|
20
|
(HPO:0000316)
|
Hypertelorism |
Frequent [Orphanet]
|
|
|
|
644 / 7739
|
21
|
(HPO:0000202)
|
Oral cleft |
Frequent [Orphanet]
|
|
|
|
120 / 7739
|
22
|
(HPO:0002616)
|
Aortic root dilatation |
Very frequent [Orphanet]
|
|
|
|
27 / 7739
|
23
|
(HPO:0001635)
|
Congestive heart failure |
Very frequent [Orphanet]
|
|
|
|
232 / 7739
|
24
|
(HPO:0001695)
|
Cardiac arrest |
Occasional [Orphanet]
|
|
|
|
87 / 7739
|
25
|
(HPO:0000963)
|
Thin skin |
Frequent [Orphanet]
|
|
|
|
96 / 7739
|
26
|
(HPO:0000256)
|
Macrocephaly |
Occasional [Orphanet]
|
|
|
|
298 / 7739
|
27
|
(HPO:0001385)
|
Hip dysplasia |
Occasional [Orphanet]
|
|
|
|
242 / 7739
|
28
|
(HPO:0002650)
|
Scoliosis |
Occasional [Orphanet]
|
|
|
|
705 / 7739
|
29
|
(HPO:0007495)
|
Prematurely aged appearance |
Occasional [Orphanet]
|
|
|
|
44 / 7739
|
30
|
(MedDRA:10003143)
|
Arterial aneurysm NOS |
|
|
|
|
4 / 7739
|
31
|
(HPO:0004209)
|
Clinodactyly of the 5th finger |
Occasional [Orphanet]
|
|
|
|
288 / 7739
|
32
|
(HPO:0001363)
|
Craniosynostosis |
Occasional [Orphanet]
|
|
|
|
132 / 7739
|
33
|
(HPO:0002647)
|
Aortic dissection |
Frequent [Orphanet]
|
|
|
|
14 / 7739
|
34
|
(HPO:0000822)
|
Hypertension |
Occasional [Orphanet]
|
|
|
|
224 / 7739
|
35
|
(HPO:0003196)
|
Short nose |
Occasional [Orphanet]
|
|
|
|
264 / 7739
|
36
|
(HPO:0000974)
|
Hyperextensible skin |
Frequent [Orphanet]
|
|
|
|
59 / 7739
|
37
|
(HPO:0001166)
|
Arachnodactyly |
|
|
|
|
62 / 7739
|
38
|
(HPO:0011302)
|
Long palm |
Occasional [Orphanet]
|
|
|
|
70 / 7739
|
39
|
(HPO:0000486)
|
Strabismus |
Occasional [Orphanet]
|
|
|
|
576 / 7739
|
40
|
(HPO:0002250)
|
Abnormality of the large intestine |
Occasional [Orphanet]
|
|
|
|
32 / 7739
|
41
|
(HPO:0002021)
|
Pyloric stenosis |
Occasional [Orphanet]
|
|
|
|
51 / 7739
|
42
|
(HPO:0001382)
|
Joint hypermobility |
Frequent [Orphanet]
|
|
|
|
231 / 7739
|
43
|
(HPO:0001388)
|
Joint laxity |
|
|
|
|
117 / 7739
|
44
|
(HPO:0001249)
|
Intellectual disability |
rare [HPO:skoehler]
|
|
|
|
1089 / 7739
|
45
|
(HPO:0000218)
|
High palate |
|
|
|
|
356 / 7739
|
46
|
(HPO:0000343)
|
Long philtrum |
|
|
|
|
262 / 7739
|
47
|
(HPO:0000347)
|
Micrognathia |
|
|
|
|
426 / 7739
|
48
|
(HPO:0000444)
|
Convex nasal ridge |
|
|
|
|
87 / 7739
|
49
|
(HPO:0000494)
|
Downslanted palpebral fissures |
|
|
|
|
328 / 7739
|
50
|
(HPO:0000767)
|
Pectus excavatum |
|
|
|
|
244 / 7739
|
51
|
(HPO:0000768)
|
Pectus carinatum |
|
|
|
|
136 / 7739
|
52
|
(HPO:0000776)
|
Congenital diaphragmatic hernia |
|
|
|
|
36 / 7739
|
53
|
(HPO:0000978)
|
Bruising susceptibility |
|
|
|
|
123 / 7739
|
54
|
(HPO:0001027)
|
Soft, doughy skin |
|
|
|
|
3 / 7739
|
55
|
(HPO:0001371)
|
Flexion contracture |
|
|
|
|
220 / 7739
|
56
|
(HPO:0001537)
|
Umbilical hernia |
|
|
|
|
206 / 7739
|
57
|
(HPO:0001650)
|
Aortic valve stenosis |
|
|
|
|
49 / 7739
|
58
|
(HPO:0001659)
|
Aortic regurgitation |
|
|
|
|
36 / 7739
|
59
|
(HPO:0001677)
|
Coronary artery disease |
Occasional [Orphanet]
|
|
|
|
58 / 7739
|
60
|
(HPO:0001714)
|
Ventricular hypertrophy |
|
|
|
|
20 / 7739
|
61
|
(HPO:0001977)
|
Abnormal thrombosis |
|
|
|
|
11 / 7739
|
62
|
(HPO:0002140)
|
Ischemic stroke |
Occasional [Orphanet]
|
|
|
|
70 / 7739
|
63
|
(HPO:0002617)
|
Aneurysm |
Very frequent [Orphanet]
|
|
|
|
34 / 7739
|
64
|
(HPO:0004299)
|
Hernia of the abdominal wall |
Frequent [Orphanet]
|
|
|
|
176 / 7739
|
65
|
(HPO:0004955)
|
Generalized arterial tortuosity |
|
|
|
|
7 / 7739
|
66
|
(HPO:0006687)
|
Aortic tortuosity |
|
|
|
|
1 / 7739
|
67
|
(HPO:0007421)
|
Telangiectases of the cheeks |
|
|
|
|
2 / 7739
|
68
|
(HPO:0005116)
|
Arterial tortuosity |
|
|
|
|
4 / 7739
|
69
|
(OMIM)
|
Elongated arteries (large and medium-sized arteries including aorta) |
|
|
|
|
1 / 7739
|
70
|
(OMIM)
|
Arterial vessels show fragmentation of the internal elastic membrane |
|
|
|
|
1 / 7739
|
71
|
(OMIM)
|
Arterial vessels show disruption of the elastic fibers of the tunica media |
|
|
|
|
1 / 7739
|
72
|
(OMIM)
|
Increased risk of thrombosis |
|
|
|
|
1 / 7739
|
73
|
(OMIM)
|
Sliding hernia |
|
|
|
|
2 / 7739
|
74
|
(OMIM)
|
Gastric hernia |
|
|
|
|
1 / 7739
|
75
|
(MedDRA:10013538)
|
Diverticulitis |
|
|
|
|
2 / 7739
|
76
|
(OMIM)
|
Bowel necrosis due to thrombosis |
|
|
|
|
1 / 7739
|
77
|
(OMIM)
|
Archnodactyly |
|
|
|
|
1 / 7739
|
78
|
(OMIM)
|
Hyperextensibility of the skin |
|
|
|
|
1 / 7739
|
79
|
(OMIM)
|
No increased bruisability |
|
|
|
|
1 / 7739
|
80
|
(HPO:0008947)
|
Infantile muscular hypotonia |
|
|
|
|
482 / 7739
|
81
|
(HPO:0010547)
|
Muscle flaccidity |
|
|
|
|
466 / 7739
|
82
|
(HPO:0001522)
|
Death in infancy |
Occasional [Orphanet]
|
|
|
|
275 / 7739
|
83
|
(HPO:0400004)
|
Long ear |
Frequent [Orphanet]
|
|
|
|
94 / 7739
|
84
|
(HPO:0004414)
|
Abnormality of the pulmonary artery |
Frequent [Orphanet]
|
|
|
|
50 / 7739
|
85
|
(HPO:0012758)
|
Neurodevelopmental delay |
Occasional [Orphanet]
|
|
|
|
949 / 7739
|
86
|
(HPO:0100692)
|
Increased corneal curvature |
Occasional [Orphanet]
|
|
|
|
13 / 7739
|
87
|
(HPO:0002577)
|
Abnormality of the stomach |
Occasional [Orphanet]
|
|
|
|
84 / 7739
|
88
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
89
|
(HPO:0000973)
|
Cutis laxa |
|
|
|
|
43 / 7739
|
90
|
(HPO:0003577)
|
Congenital onset |
|
|
|
|
133 / 7739
|