Symptom Information: Sort according to HPO 

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