1
|
(HPO:0000275)
|
Narrow face |
Frequent [Orphanet]
|
|
|
|
76 / 7739
|
2
|
(HPO:0000286)
|
Epicanthus |
Occasional [Orphanet]
|
|
|
|
371 / 7739
|
3
|
(HPO:0000325)
|
Triangular face |
Very frequent [Orphanet]
|
|
|
|
91 / 7739
|
4
|
(HPO:0000482)
|
Microcornea |
Occasional [Orphanet]
|
|
|
|
102 / 7739
|
5
|
(HPO:0000501)
|
Glaucoma |
Very frequent [Orphanet]
|
|
|
|
180 / 7739
|
6
|
(HPO:0000541)
|
Retinal detachment |
Occasional [Orphanet]
|
|
|
|
87 / 7739
|
7
|
(HPO:0000545)
|
Myopia |
Occasional [Orphanet]
|
|
|
|
286 / 7739
|
8
|
(HPO:0000592)
|
Blue sclerae |
Occasional [Orphanet]
|
|
|
|
85 / 7739
|
9
|
(HPO:0000689)
|
Dental malocclusion |
Occasional [Orphanet]
|
|
|
|
114 / 7739
|
10
|
(HPO:0000691)
|
Microdontia |
Occasional [Orphanet]
|
|
|
|
104 / 7739
|
11
|
(HPO:0000768)
|
Pectus carinatum |
Very frequent [Orphanet]
|
|
|
|
136 / 7739
|
12
|
(HPO:0000822)
|
Hypertension |
Very frequent [Orphanet]
|
|
|
|
224 / 7739
|
13
|
(HPO:0000963)
|
Thin skin |
Frequent [Orphanet]
|
|
|
|
96 / 7739
|
14
|
(HPO:0000964)
|
Eczema |
Very frequent [Orphanet]
|
|
|
|
81 / 7739
|
15
|
(HPO:0000974)
|
Hyperextensible skin |
Very frequent [Orphanet]
|
|
|
|
59 / 7739
|
16
|
(HPO:0000978)
|
Bruising susceptibility |
Frequent [Orphanet]
|
|
|
|
123 / 7739
|
17
|
(HPO:0000987)
|
Atypical scarring of skin |
Very frequent [Orphanet]
|
|
|
|
58 / 7739
|
18
|
(HPO:0001025)
|
Urticaria |
Occasional [Orphanet]
|
|
|
|
73 / 7739
|
19
|
(HPO:0001063)
|
Acrocyanosis |
Frequent [Orphanet]
|
|
|
|
56 / 7739
|
20
|
(HPO:0001065)
|
Striae distensae |
Very frequent [Orphanet]
|
|
|
|
26 / 7739
|
21
|
(HPO:0001083)
|
Ectopia lentis |
Occasional [Orphanet]
|
|
|
|
45 / 7739
|
22
|
(HPO:0001131)
|
Corneal dystrophy |
Occasional [Orphanet]
|
|
|
|
56 / 7739
|
23
|
(HPO:0001252)
|
Muscular hypotonia |
Frequent [Orphanet]
|
|
|
|
990 / 7739
|
24
|
(HPO:0001324)
|
Muscle weakness |
Frequent [Orphanet]
|
|
|
|
859 / 7739
|
25
|
(HPO:0001373)
|
Joint dislocation |
Frequent [Orphanet]
|
|
|
|
59 / 7739
|
26
|
(HPO:0001382)
|
Joint hypermobility |
Very frequent [Orphanet]
|
|
|
|
231 / 7739
|
27
|
(HPO:0001537)
|
Umbilical hernia |
Frequent [Orphanet]
|
|
|
|
206 / 7739
|
28
|
(HPO:0001622)
|
Premature birth |
Frequent [Orphanet]
|
|
|
|
100 / 7739
|
29
|
(HPO:0001631)
|
Atria septal defect |
Occasional [Orphanet]
|
|
|
|
274 / 7739
|
30
|
(HPO:0001633)
|
Abnormality of the mitral valve |
Frequent [Orphanet]
|
|
|
|
69 / 7739
|
31
|
(HPO:0001702)
|
Abnormality of the tricuspid valve |
Frequent [Orphanet]
|
|
|
|
32 / 7739
|
32
|
(HPO:0001763)
|
Pes planus |
Occasional [Orphanet]
|
|
|
|
176 / 7739
|
33
|
(HPO:0002097)
|
Emphysema |
Very frequent [Orphanet]
|
|
|
|
40 / 7739
|
34
|
(HPO:0002099)
|
Asthma |
Very frequent [Orphanet]
|
|
|
|
62 / 7739
|
35
|
(HPO:0002615)
|
Hypotension |
Very frequent [Orphanet]
|
|
|
|
52 / 7739
|
36
|
(HPO:0002650)
|
Scoliosis |
Frequent [Orphanet]
|
|
|
|
705 / 7739
|
37
|
(HPO:0002758)
|
Osteoarthritis |
Occasional [Orphanet]
|
|
|
|
78 / 7739
|
38
|
(HPO:0002808)
|
Kyphosis |
Occasional [Orphanet]
|
|
|
|
289 / 7739
|
39
|
(HPO:0003298)
|
Spina bifida occulta |
Very frequent [Orphanet]
|
|
|
|
67 / 7739
|
40
|
(HPO:0003307)
|
Hyperlordosis |
Very frequent [Orphanet]
|
|
|
|
122 / 7739
|
41
|
(HPO:0003326)
|
Myalgia |
Frequent [Orphanet]
|
|
|
|
143 / 7739
|
42
|
(HPO:0004322)
|
Short stature |
Occasional [Orphanet]
|
|
|
|
1232 / 7739
|
43
|
(HPO:0004372)
|
Reduced consciousness/confusion |
Occasional [Orphanet]
|
|
|
|
73 / 7739
|
44
|
(HPO:0005105)
|
Abnormal nasal morphology |
Very frequent [Orphanet]
|
|
|
|
114 / 7739
|
45
|
(HPO:0005293)
|
Venous insufficiency |
Frequent [Orphanet]
|
|
|
|
27 / 7739
|
46
|
(HPO:0005294)
|
Arterial dissection |
Very frequent [Orphanet]
|
|
|
|
8 / 7739
|
47
|
(HPO:0009721)
|
Shagreen patch |
Very frequent [Orphanet]
|
|
|
|
11 / 7739
|
48
|
(HPO:0009804)
|
Reduced number of teeth |
Occasional [Orphanet]
|
|
|
|
137 / 7739
|
49
|
(HPO:0010318)
|
Aplasia/Hypoplasia of the abdominal wall musculature |
Frequent [Orphanet]
|
|
|
|
55 / 7739
|
50
|
(HPO:0100720)
|
Hypoplasia of the ear cartilage |
Frequent [Orphanet]
|
|
|
|
12 / 7739
|
51
|
(HPO:0100818)
|
Long thorax |
Occasional [Orphanet]
|
|
|
|
10 / 7739
|
52
|
(HPO:0000951)
|
Abnormality of the skin |
Frequent [Orphanet]
|
|
|
|
147 / 7739
|
53
|
(HPO:0100326)
|
Immunologic hypersensitivity |
Occasional [Orphanet]
|
|
|
|
28 / 7739
|
54
|
(HPO:0000445)
|
Wide nose |
Occasional [Orphanet]
|
|
|
|
190 / 7739
|
55
|
(HPO:0002315)
|
Headache |
Occasional [Orphanet]
|
|
|
|
175 / 7739
|
56
|
(HPO:0000139)
|
Uterine prolapse |
Occasional [Orphanet]
|
|
|
|
6 / 7739
|
57
|
(HPO:0002616)
|
Aortic root dilatation |
Occasional [Orphanet]
|
|
|
|
27 / 7739
|
58
|
(HPO:0011302)
|
Long palm |
Very frequent [Orphanet]
|
|
|
|
70 / 7739
|
59
|
(HPO:0012371)
|
Hyperplasia of midface |
Very frequent [Orphanet]
|
|
|
|
10 / 7739
|
60
|
(HPO:0002705)
|
High, narrow palate |
Very frequent [Orphanet]
|
|
|
|
308 / 7739
|
61
|
(HPO:0004326)
|
Cachexia |
Occasional [Orphanet]
|
|
|
|
71 / 7739
|
62
|
(HPO:0010783)
|
Erythema |
Frequent [Orphanet]
|
|
|
|
138 / 7739
|
63
|
(HPO:0000124)
|
Renal tubular dysfunction |
Occasional [Orphanet]
|
|
|
|
46 / 7739
|
64
|
(HPO:0012758)
|
Neurodevelopmental delay |
Occasional [Orphanet]
|
|
|
|
949 / 7739
|
65
|
(HPO:0002577)
|
Abnormality of the stomach |
Frequent [Orphanet]
|
|
|
|
84 / 7739
|
66
|
(HPO:0004299)
|
Hernia of the abdominal wall |
Occasional [Orphanet]
|
|
|
|
176 / 7739
|
67
|
(HPO:0001933)
|
Subcutaneous hemorrhage |
Very frequent [Orphanet]
|
|
|
|
50 / 7739
|
68
|
(HPO:0000163)
|
Abnormality of the oral cavity |
Very frequent [Orphanet]
|
|
|
|
37 / 7739
|
69
|
(HPO:0100692)
|
Increased corneal curvature |
Occasional [Orphanet]
|
|
|
|
13 / 7739
|
70
|
(HPO:0030350)
|
Erythematous papule |
Occasional [Orphanet]
|
|
|
|
123 / 7739
|
71
|
(HPO:0000164)
|
Abnormality of the teeth |
Occasional [Orphanet]
|
|
|
|
291 / 7739
|
72
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
73
|
(HPO:0000023)
|
Inguinal hernia |
|
|
|
|
181 / 7739
|
74
|
(HPO:0000394)
|
Lop ear |
|
|
|
|
6 / 7739
|
75
|
(HPO:0000977)
|
Soft skin |
|
|
|
|
23 / 7739
|
76
|
(HPO:0000993)
|
Molluscoid pseudotumors |
|
|
|
|
8 / 7739
|
77
|
(HPO:0001030)
|
Fragile skin |
|
|
|
|
25 / 7739
|
78
|
(HPO:0001058)
|
Poor wound healing |
|
|
|
|
9 / 7739
|
79
|
(HPO:0001073)
|
Cigarette-paper scars |
|
|
|
|
7 / 7739
|
80
|
(HPO:0001634)
|
Mitral valve prolapse |
|
|
|
|
69 / 7739
|
81
|
(HPO:0002010)
|
Narrow maxilla |
|
|
|
|
3 / 7739
|
82
|
(HPO:0005100)
|
Premature birth following premature rupture of fetal membranes |
|
|
|
|
2 / 7739
|
83
|
(HPO:0005222)
|
Bowel diverticulosis |
|
|
|
|
2 / 7739
|
84
|
(HPO:0006316)
|
Irregularly spaced teeth |
|
|
|
|
2 / 7739
|
85
|
(HPO:0008947)
|
Infantile muscular hypotonia |
|
|
|
|
482 / 7739
|