1
|
(HPO:0001387)
|
Joint stiffness |
Occasional [Orphanet]
|
|
|
|
322 / 7739
|
2
|
(HPO:0004378)
|
Abnormality of the anus |
Occasional [Orphanet]
|
|
|
|
34 / 7739
|
3
|
(HPO:0002024)
|
Malabsorption |
Frequent [Orphanet]
|
|
|
|
142 / 7739
|
4
|
(HPO:0003326)
|
Myalgia |
Very frequent [Orphanet]
|
|
|
|
143 / 7739
|
5
|
(HPO:0000789)
|
Infertility |
Occasional [Orphanet]
|
|
|
|
74 / 7739
|
6
|
(HPO:0000951)
|
Abnormality of the skin |
Frequent [Orphanet]
|
|
|
|
147 / 7739
|
7
|
(HPO:0001760)
|
Abnormality of the foot |
Very frequent [Orphanet]
|
|
|
|
96 / 7739
|
8
|
(HPO:0000164)
|
Abnormality of the teeth |
Occasional [Orphanet]
|
|
|
|
291 / 7739
|
9
|
(HPO:0002758)
|
Osteoarthritis |
Frequent [Orphanet]
|
|
|
|
78 / 7739
|
10
|
(HPO:0001097)
|
Keratoconjunctivitis sicca |
Occasional [Orphanet]
|
|
|
|
25 / 7739
|
11
|
(HPO:0005293)
|
Venous insufficiency |
Occasional [Orphanet]
|
|
|
|
27 / 7739
|
12
|
(HPO:0000691)
|
Microdontia |
Occasional [Orphanet]
|
|
|
|
104 / 7739
|
13
|
(HPO:0000139)
|
Uterine prolapse |
Occasional [Orphanet]
|
|
|
|
6 / 7739
|
14
|
(HPO:0002315)
|
Headache |
Frequent [Orphanet]
|
|
|
|
175 / 7739
|
15
|
(HPO:0002616)
|
Aortic root dilatation |
Occasional [Orphanet]
|
|
|
|
27 / 7739
|
16
|
(HPO:0000963)
|
Thin skin |
Frequent [Orphanet]
|
|
|
|
96 / 7739
|
17
|
(HPO:0100550)
|
Tendon rupture |
Occasional [Orphanet]
|
|
|
|
17 / 7739
|
18
|
(HPO:0002797)
|
Osteolysis |
Occasional [Orphanet]
|
|
|
|
68 / 7739
|
19
|
(HPO:0002650)
|
Scoliosis |
Occasional [Orphanet]
|
|
|
|
705 / 7739
|
20
|
(HPO:0001373)
|
Joint dislocation |
Very frequent [Orphanet]
|
|
|
|
59 / 7739
|
21
|
(HPO:0012095)
|
Multiple joint dislocation |
|
|
|
|
24 / 7739
|
22
|
(HPO:0001063)
|
Acrocyanosis |
Very frequent [Orphanet]
|
|
|
|
56 / 7739
|
23
|
(HPO:0002360)
|
Sleep disturbance |
Very frequent [Orphanet]
|
|
|
|
113 / 7739
|
24
|
(HPO:0002019)
|
Constipation |
Frequent [Orphanet]
|
|
|
|
194 / 7739
|
25
|
(HPO:0001763)
|
Pes planus |
Frequent [Orphanet]
|
|
|
|
176 / 7739
|
26
|
(HPO:0000230)
|
Gingivitis |
Occasional [Orphanet]
|
|
|
|
31 / 7739
|
27
|
(HPO:0002141)
|
Gait imbalance |
Very frequent [Orphanet]
|
|
|
|
55 / 7739
|
28
|
(HPO:0003134)
|
Abnormality of peripheral nerve conduction |
Frequent [Orphanet]
|
|
|
|
38 / 7739
|
29
|
(HPO:0010318)
|
Aplasia/Hypoplasia of the abdominal wall musculature |
Occasional [Orphanet]
|
|
|
|
55 / 7739
|
30
|
(HPO:0005059)
|
Arthralgia/arthritis |
Frequent [Orphanet]
|
|
|
|
141 / 7739
|
31
|
(HPO:0100769)
|
Synovitis |
Frequent [Orphanet]
|
|
|
|
86 / 7739
|
32
|
(HPO:0003042)
|
Elbow dislocation |
Very frequent [Orphanet]
|
|
|
|
89 / 7739
|
33
|
(HPO:0005021)
|
Bilateral elbow dislocations |
|
|
|
|
24 / 7739
|
34
|
(HPO:0011675)
|
Arrhythmia |
Frequent [Orphanet]
|
|
|
|
226 / 7739
|
35
|
(HPO:0001385)
|
Hip dysplasia |
Very frequent [Orphanet]
|
|
|
|
242 / 7739
|
36
|
(HPO:0002827)
|
Hip dislocation |
|
|
|
|
94 / 7739
|
37
|
(HPO:0000174)
|
Abnormality of the palate |
Occasional [Orphanet]
|
|
|
|
298 / 7739
|
38
|
(HPO:0003019)
|
Abnormality of the wrist |
Occasional [Orphanet]
|
|
|
|
52 / 7739
|
39
|
(HPO:0000168)
|
Abnormality of the gingiva |
Occasional [Orphanet]
|
|
|
|
51 / 7739
|
40
|
(HPO:0000508)
|
Ptosis |
Occasional [Orphanet]
|
|
|
|
459 / 7739
|
41
|
(HPO:0001537)
|
Umbilical hernia |
Occasional [Orphanet]
|
|
|
|
206 / 7739
|
42
|
(HPO:0002104)
|
Apnea |
Occasional [Orphanet]
|
|
|
|
106 / 7739
|
43
|
(HPO:0000974)
|
Hyperextensible skin |
Very frequent [Orphanet]
|
|
|
|
59 / 7739
|
44
|
(HPO:0005294)
|
Arterial dissection |
Occasional [Orphanet]
|
|
|
|
8 / 7739
|
45
|
(HPO:0002017)
|
Nausea and vomiting |
Frequent [Orphanet]
|
|
|
|
134 / 7739
|
46
|
(HPO:0000286)
|
Epicanthus |
Occasional [Orphanet]
|
|
|
|
371 / 7739
|
47
|
(HPO:0001382)
|
Joint hypermobility |
Very frequent [Orphanet]
|
|
|
|
231 / 7739
|
48
|
(HPO:0001388)
|
Joint laxity |
|
|
|
|
117 / 7739
|
49
|
(HPO:0005692)
|
Joint hyperflexibility |
|
|
|
|
20 / 7739
|
50
|
(HPO:0002645)
|
Wormian bones |
Very frequent [Orphanet]
|
|
|
|
65 / 7739
|
51
|
(HPO:0100645)
|
Cystocele |
Occasional [Orphanet]
|
|
|
|
2 / 7739
|
52
|
(HPO:0000977)
|
Soft skin |
|
|
|
|
23 / 7739
|
53
|
(HPO:0000987)
|
Atypical scarring of skin |
Occasional [Orphanet]
|
|
|
|
58 / 7739
|
54
|
(HPO:0001065)
|
Striae distensae |
|
|
|
|
26 / 7739
|
55
|
(HPO:0001634)
|
Mitral valve prolapse |
|
|
|
|
69 / 7739
|
56
|
(HPO:0002999)
|
Patellar dislocation |
|
|
|
|
46 / 7739
|
57
|
(HPO:0003179)
|
Protrusio acetabuli |
|
|
|
|
37 / 7739
|
58
|
(HPO:0003834)
|
Shoulder dislocation |
|
|
|
|
28 / 7739
|
59
|
(HPO:0003994)
|
Dislocated wrist |
|
|
|
|
24 / 7739
|
60
|
(HPO:0001379)
|
Degenerative joint disease |
|
|
|
|
8 / 7739
|
61
|
(OMIM)
|
Sacral striae |
|
|
|
|
1 / 7739
|
62
|
(OMIM)
|
No scarring |
|
|
|
|
2 / 7739
|
63
|
(HPO:0001367)
|
Abnormal joint morphology |
Very frequent [Orphanet]
|
|
|
|
53 / 7739
|
64
|
(HPO:0010720)
|
Abnormal hair pattern |
Occasional [Orphanet]
|
|
|
|
14 / 7739
|
65
|
(HPO:0001031)
|
Subcutaneous lipoma |
Occasional [Orphanet]
|
|
|
|
112 / 7739
|
66
|
(HPO:0100692)
|
Increased corneal curvature |
Occasional [Orphanet]
|
|
|
|
13 / 7739
|
67
|
(HPO:0001324)
|
Muscle weakness |
Very frequent [Orphanet]
|
|
|
|
859 / 7739
|
68
|
(HPO:0000858)
|
Menstrual irregularities |
Occasional [Orphanet]
|
|
|
|
42 / 7739
|
69
|
(HPO:0100851)
|
Abnormal emotion/affect behavior |
Frequent [Orphanet]
|
|
|
|
85 / 7739
|
70
|
(HPO:0000163)
|
Abnormality of the oral cavity |
Occasional [Orphanet]
|
|
|
|
37 / 7739
|
71
|
(HPO:0004299)
|
Hernia of the abdominal wall |
Occasional [Orphanet]
|
|
|
|
176 / 7739
|
72
|
(HPO:0002577)
|
Abnormality of the stomach |
Occasional [Orphanet]
|
|
|
|
84 / 7739
|
73
|
(HPO:0000763)
|
Sensory neuropathy |
Occasional [Orphanet]
|
|
|
|
78 / 7739
|
74
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|