1
|
(HPO:0000268)
|
Dolichocephaly |
Occasional [Orphanet]
|
|
|
|
144 / 7739
|
2
|
(HPO:0000275)
|
Narrow face |
Frequent [Orphanet]
|
|
|
|
76 / 7739
|
3
|
(HPO:0000501)
|
Glaucoma |
Occasional [Orphanet]
|
|
|
|
180 / 7739
|
4
|
(HPO:0000541)
|
Retinal detachment |
Occasional [Orphanet]
|
|
|
|
87 / 7739
|
5
|
(HPO:0000545)
|
Myopia |
Frequent [Orphanet]
|
|
|
|
286 / 7739
|
6
|
(HPO:0000689)
|
Dental malocclusion |
Frequent [Orphanet]
|
|
|
|
114 / 7739
|
7
|
(HPO:0000767)
|
Pectus excavatum |
Frequent [Orphanet]
|
|
|
|
244 / 7739
|
8
|
(HPO:0001065)
|
Striae distensae |
Very frequent [Orphanet]
|
|
|
|
26 / 7739
|
9
|
(HPO:0001083)
|
Ectopia lentis |
Occasional [Orphanet]
|
|
|
|
45 / 7739
|
10
|
(HPO:0001252)
|
Muscular hypotonia |
Very frequent [Orphanet]
|
|
|
|
990 / 7739
|
11
|
(HPO:0001324)
|
Muscle weakness |
Very frequent [Orphanet]
|
|
|
|
859 / 7739
|
12
|
(HPO:0001382)
|
Joint hypermobility |
Frequent [Orphanet]
|
|
|
|
231 / 7739
|
13
|
(HPO:0001519)
|
Disproportionate tall stature |
Very frequent [Orphanet]
|
|
|
|
39 / 7739
|
14
|
(HPO:0001635)
|
Congestive heart failure |
Occasional [Orphanet]
|
|
|
|
232 / 7739
|
15
|
(HPO:0001646)
|
Abnormality of the aortic valve |
Occasional [Orphanet]
|
|
|
|
55 / 7739
|
16
|
(HPO:0001763)
|
Pes planus |
Very frequent [Orphanet]
|
|
|
|
176 / 7739
|
17
|
(HPO:0002360)
|
Sleep disturbance |
Frequent [Orphanet]
|
|
|
|
113 / 7739
|
18
|
(HPO:0002435)
|
Meningocele |
Occasional [Orphanet]
|
|
|
|
23 / 7739
|
19
|
(HPO:0002617)
|
Aneurysm |
Frequent [Orphanet]
|
|
|
|
34 / 7739
|
20
|
(HPO:0002647)
|
Aortic dissection |
Occasional [Orphanet]
|
|
|
|
14 / 7739
|
21
|
(HPO:0002650)
|
Scoliosis |
Frequent [Orphanet]
|
|
|
|
705 / 7739
|
22
|
(HPO:0002808)
|
Kyphosis |
Occasional [Orphanet]
|
|
|
|
289 / 7739
|
23
|
(HPO:0005059)
|
Arthralgia/arthritis |
Frequent [Orphanet]
|
|
|
|
141 / 7739
|
24
|
(HPO:0003179)
|
Protrusio acetabuli |
Frequent [Orphanet]
|
|
|
|
37 / 7739
|
25
|
(HPO:0003202)
|
Skeletal muscle atrophy |
Very frequent [Orphanet]
|
|
|
|
281 / 7739
|
26
|
(HPO:0003326)
|
Myalgia |
Occasional [Orphanet]
|
|
|
|
143 / 7739
|
27
|
(HPO:0004299)
|
Hernia of the abdominal wall |
Occasional [Orphanet]
|
|
|
|
176 / 7739
|
28
|
(HPO:0004306)
|
Abnormality of the endocardium |
Occasional [Orphanet]
|
|
|
|
24 / 7739
|
29
|
(HPO:0004349)
|
Reduced bone mineral density |
Occasional [Orphanet]
|
|
|
|
165 / 7739
|
30
|
(HPO:0005294)
|
Arterial dissection |
Occasional [Orphanet]
|
|
|
|
8 / 7739
|
31
|
(HPO:0007720)
|
Flat cornea |
Occasional [Orphanet]
|
|
|
|
6 / 7739
|
32
|
(HPO:0100749)
|
Chest pain |
Occasional [Orphanet]
|
|
|
|
92 / 7739
|
33
|
(HPO:0100775)
|
Dural ectasia |
Frequent [Orphanet]
|
|
|
|
5 / 7739
|
34
|
(HPO:0001387)
|
Joint stiffness |
Occasional [Orphanet]
|
|
|
|
322 / 7739
|
35
|
(HPO:0000572)
|
Visual loss |
Frequent [Orphanet]
|
|
|
|
272 / 7739
|
36
|
(HPO:0000272)
|
Malar flattening |
Frequent [Orphanet]
|
|
|
|
277 / 7739
|
37
|
(HPO:0000098)
|
Tall stature |
Very frequent [Orphanet]
|
|
|
|
74 / 7739
|
38
|
(HPO:0002616)
|
Aortic root dilatation |
Very frequent [Orphanet]
|
|
|
|
27 / 7739
|
39
|
(HPO:0002705)
|
High, narrow palate |
Frequent [Orphanet]
|
|
|
|
308 / 7739
|
40
|
(HPO:0004326)
|
Cachexia |
Frequent [Orphanet]
|
|
|
|
71 / 7739
|
41
|
(HPO:0000752)
|
Hyperactivity |
Occasional [Orphanet]
|
|
|
|
140 / 7739
|
42
|
(HPO:0011302)
|
Long palm |
Very frequent [Orphanet]
|
|
|
|
70 / 7739
|
43
|
(HPO:0000174)
|
Abnormality of the palate |
Occasional [Orphanet]
|
|
|
|
298 / 7739
|
44
|
(HPO:0001367)
|
Abnormal joint morphology |
Occasional [Orphanet]
|
|
|
|
53 / 7739
|
45
|
(HPO:0000164)
|
Abnormality of the teeth |
Occasional [Orphanet]
|
|
|
|
291 / 7739
|
46
|
(HPO:0000277)
|
Abnormality of the mandible |
Occasional [Orphanet]
|
|
|
|
394 / 7739
|