|
1
|
(HPO:0001387)
|
Joint stiffness |
Very frequent [Orphanet]
|
|
|
|
322 / 7739
|
|
2
|
(HPO:0001252)
|
Muscular hypotonia |
Very frequent [Orphanet]
|
|
|
|
990 / 7739
|
|
3
|
(HPO:0001324)
|
Muscle weakness |
Very frequent [Orphanet]
|
|
|
|
859 / 7739
|
|
4
|
(HPO:0000951)
|
Abnormality of the skin |
Very frequent [Orphanet]
|
|
|
|
147 / 7739
|
|
5
|
(HPO:0001373)
|
Joint dislocation |
Very frequent [Orphanet]
|
|
|
|
59 / 7739
|
|
6
|
(HPO:0000974)
|
Hyperextensible skin |
Very frequent [Orphanet]
|
|
|
|
59 / 7739
|
|
7
|
(HPO:0000316)
|
Hypertelorism |
Frequent [Orphanet]
|
|
|
|
644 / 7739
|
|
8
|
(HPO:0010547)
|
Muscle flaccidity |
|
|
|
|
466 / 7739
|
|
9
|
(HPO:0004322)
|
Short stature |
Very frequent [Orphanet]
|
|
|
|
1232 / 7739
|
|
10
|
(HPO:0000963)
|
Thin skin |
Very frequent [Orphanet]
|
|
|
|
96 / 7739
|
|
11
|
(HPO:0000286)
|
Epicanthus |
Frequent [Orphanet]
|
|
|
|
371 / 7739
|
|
12
|
(HPO:0001382)
|
Joint hypermobility |
Very frequent [Orphanet]
|
|
|
|
231 / 7739
|
|
13
|
(HPO:0001388)
|
Joint laxity |
|
|
|
|
117 / 7739
|
|
14
|
(HPO:0005280)
|
Depressed nasal bridge |
Frequent [Orphanet]
|
|
|
|
381 / 7739
|
|
15
|
(HPO:0002650)
|
Scoliosis |
Frequent [Orphanet]
|
|
|
|
705 / 7739
|
|
16
|
(HPO:0001385)
|
Hip dysplasia |
Very frequent [Orphanet]
|
|
|
|
242 / 7739
|
|
17
|
(HPO:0000272)
|
Malar flattening |
|
|
|
|
277 / 7739
|
|
18
|
(HPO:0000938)
|
Osteopenia |
|
|
|
|
138 / 7739
|
|
19
|
(HPO:0000977)
|
Soft skin |
|
|
|
|
23 / 7739
|
|
20
|
(HPO:0000978)
|
Bruising susceptibility |
|
|
|
|
123 / 7739
|
|
21
|
(HPO:0000987)
|
Atypical scarring of skin |
Very frequent [Orphanet]
|
|
|
|
58 / 7739
|
|
22
|
(HPO:0001058)
|
Poor wound healing |
|
|
|
|
9 / 7739
|
|
23
|
(HPO:0001075)
|
Atrophic scars |
|
|
|
|
15 / 7739
|
|
24
|
(HPO:0001623)
|
Breech presentation |
|
|
|
|
16 / 7739
|
|
25
|
(HPO:0002167)
|
Neurological speech impairment |
Very frequent [Orphanet]
|
|
|
|
308 / 7739
|
|
26
|
(HPO:0002194)
|
Delayed gross motor development |
|
|
|
|
37 / 7739
|
|
27
|
(HPO:0002659)
|
Increased susceptibility to fractures |
|
|
|
|
110 / 7739
|
|
28
|
(HPO:0002808)
|
Kyphosis |
|
|
|
|
289 / 7739
|
|
29
|
(HPO:0003088)
|
Premature osteoarthritis |
|
|
|
|
10 / 7739
|
|
30
|
(HPO:0003502)
|
Mild short stature |
|
|
|
|
19 / 7739
|
|
31
|
(HPO:0004299)
|
Hernia of the abdominal wall |
Occasional [Orphanet]
|
|
|
|
176 / 7739
|
|
32
|
(HPO:0008780)
|
Congenital bilateral hip dislocation |
|
|
|
|
4 / 7739
|
|
33
|
(HPO:0011800)
|
Midface retrusion |
|
|
|
|
221 / 7739
|
|
34
|
(OMIM)
|
Mild to moderate short stature |
|
|
|
|
7 / 7739
|
|
35
|
(OMIM)
|
Joint laxity, severe |
|
|
|
|
3 / 7739
|
|
36
|
(OMIM)
|
Recurrent joint subluxation |
|
|
|
|
3 / 7739
|
|
37
|
(MedDRA:10017322)
|
Fractures |
|
|
|
|
18 / 7739
|
|
38
|
(MedDRA:10017076)
|
Fracture |
|
|
|
|
18 / 7739
|
|
39
|
(OMIM)
|
Thin, velvety skin |
|
|
|
|
3 / 7739
|
|
40
|
(HPO:0008947)
|
Infantile muscular hypotonia |
|
|
|
|
482 / 7739
|
|
41
|
(HPO:0000277)
|
Abnormality of the mandible |
Frequent [Orphanet]
|
|
|
|
394 / 7739
|
|
42
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|