|
1
|
(HPO:0009830)
|
Peripheral neuropathy |
Frequent [Orphanet]
|
|
|
|
206 / 7739
|
|
2
|
(HPO:0003202)
|
Skeletal muscle atrophy |
Frequent [Orphanet]
|
|
|
|
281 / 7739
|
|
3
|
(HPO:0003298)
|
Spina bifida occulta |
Occasional [Orphanet]
|
|
|
|
67 / 7739
|
|
4
|
(HPO:0001252)
|
Muscular hypotonia |
Frequent [Orphanet]
|
|
|
|
990 / 7739
|
|
5
|
(HPO:0001324)
|
Muscle weakness |
Frequent [Orphanet]
|
|
|
|
859 / 7739
|
|
6
|
(HPO:0003326)
|
Myalgia |
Frequent [Orphanet]
|
|
|
|
143 / 7739
|
|
7
|
(HPO:0001634)
|
Mitral valve prolapse |
|
|
|
|
69 / 7739
|
|
8
|
(HPO:0001373)
|
Joint dislocation |
Frequent [Orphanet]
|
|
|
|
59 / 7739
|
|
9
|
(HPO:0012095)
|
Multiple joint dislocation |
|
|
|
|
24 / 7739
|
|
10
|
(HPO:0000978)
|
Bruising susceptibility |
Very frequent [Orphanet]
|
|
|
|
123 / 7739
|
|
11
|
(HPO:0000974)
|
Hyperextensible skin |
Very frequent [Orphanet]
|
|
|
|
59 / 7739
|
|
12
|
(HPO:0002829)
|
Arthralgia |
|
|
|
|
79 / 7739
|
|
13
|
(HPO:0005059)
|
Arthralgia/arthritis |
Frequent [Orphanet]
|
|
|
|
141 / 7739
|
|
14
|
(HPO:0002239)
|
Gastrointestinal hemorrhage |
Occasional [Orphanet]
|
|
|
|
97 / 7739
|
|
15
|
(HPO:0000963)
|
Thin skin |
Frequent [Orphanet]
|
|
|
|
96 / 7739
|
|
16
|
(HPO:0002621)
|
Atherosclerosis |
Occasional [Orphanet]
|
|
|
|
33 / 7739
|
|
17
|
(HPO:0002140)
|
Ischemic stroke |
Occasional [Orphanet]
|
|
|
|
70 / 7739
|
|
18
|
(HPO:0008221)
|
Adrenal hyperplasia |
Occasional [Orphanet]
|
|
|
|
24 / 7739
|
|
19
|
(HPO:0001382)
|
Joint hypermobility |
Very frequent [Orphanet]
|
|
|
|
231 / 7739
|
|
20
|
(HPO:0011675)
|
Arrhythmia |
Occasional [Orphanet]
|
|
|
|
226 / 7739
|
|
21
|
(HPO:0000061)
|
Ambiguous genitalia, female |
|
|
|
|
8 / 7739
|
|
22
|
(HPO:0000076)
|
Vesicoureteral reflux |
|
|
|
|
94 / 7739
|
|
23
|
(HPO:0000813)
|
Bicornuate uterus |
|
|
|
|
22 / 7739
|
|
24
|
(HPO:0000977)
|
Soft skin |
|
|
|
|
23 / 7739
|
|
25
|
(HPO:0001633)
|
Abnormality of the mitral valve |
Occasional [Orphanet]
|
|
|
|
69 / 7739
|
|
26
|
(HPO:0002036)
|
Hiatus hernia |
|
|
|
|
24 / 7739
|
|
27
|
(OMIM)
|
Quadricuspid aortic valve (seen in patients with contiguous gene defect) |
|
|
|
|
1 / 7739
|
|
28
|
(HPO:0000062)
|
Ambiguous genitalia |
|
|
|
|
74 / 7739
|
|
29
|
(HPO:0000130)
|
Abnormality of the uterus |
|
|
|
|
86 / 7739
|
|
30
|
(OMIM)
|
Single kidney |
|
|
|
|
2 / 7739
|
|
31
|
(MedDRA:10067784)
|
Urethral prolapse |
|
|
|
|
1 / 7739
|
|
32
|
(HPO:0002827)
|
Hip dislocation |
|
|
|
|
94 / 7739
|
|
33
|
(HPO:0002999)
|
Patellar dislocation |
|
|
|
|
46 / 7739
|
|
34
|
(HPO:0003042)
|
Elbow dislocation |
|
|
|
|
89 / 7739
|
|
35
|
(HPO:0003179)
|
Protrusio acetabuli |
|
|
|
|
37 / 7739
|
|
36
|
(HPO:0003834)
|
Shoulder dislocation |
|
|
|
|
28 / 7739
|
|
37
|
(HPO:0003994)
|
Dislocated wrist |
|
|
|
|
24 / 7739
|
|
38
|
(HPO:0005021)
|
Bilateral elbow dislocations |
|
|
|
|
24 / 7739
|
|
39
|
(OMIM)
|
No scarring |
|
|
|
|
2 / 7739
|
|
40
|
(MedDRA:10070939)
|
Wound healing normal |
|
|
|
|
5 / 7739
|
|
41
|
(OMIM)
|
Elevated serum 17-hydroxyprogesterone level (seen in patients with contiguous gene defect) |
|
|
|
|
1 / 7739
|
|
42
|
(OMIM)
|
Tenascin X deficiency (serum and fibroblasts) |
|
|
|
|
1 / 7739
|
|
43
|
(HPO:0003474)
|
Sensory impairment |
Frequent [Orphanet]
|
|
|
|
54 / 7739
|
|
44
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
45
|
(HPO:0003555)
|
Muscle fiber splitting |
rare [HPO:skoehler]
|
|
|
|
11 / 7739
|
|
46
|
(HPO:0003701)
|
Proximal muscle weakness |
rare [HPO:skoehler]
|
|
|
|
105 / 7739
|
|
47
|
(HPO:0007126)
|
Proximal amyotrophy |
rare [HPO:skoehler]
|
|
|
|
29 / 7739
|
|
48
|
(HPO:0009025)
|
Increased connective tissue |
rare [HPO:skoehler]
|
|
|
|
11 / 7739
|