1
|
(HPO:0000160)
|
Narrow mouth |
|
|
|
|
188 / 7739
|
2
|
(HPO:0000308)
|
Microretrognathia |
|
|
|
|
78 / 7739
|
3
|
(HPO:0000311)
|
Round face |
|
|
|
|
104 / 7739
|
4
|
(HPO:0000470)
|
Short neck |
|
|
|
|
345 / 7739
|
5
|
(HPO:0000520)
|
Proptosis |
|
|
|
|
192 / 7739
|
6
|
(HPO:0000774)
|
Narrow chest |
|
|
|
|
167 / 7739
|
7
|
(HPO:0000926)
|
Platyspondyly |
|
|
|
|
150 / 7739
|
8
|
(HPO:0000939)
|
Osteoporosis |
|
|
|
|
129 / 7739
|
9
|
(HPO:0001087)
|
Congenital glaucoma |
|
|
|
|
12 / 7739
|
10
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
11
|
(HPO:0001270)
|
Motor delay |
|
|
|
|
322 / 7739
|
12
|
(HPO:0001252)
|
Muscular hypotonia |
|
|
|
|
990 / 7739
|
13
|
(HPO:0001324)
|
Muscle weakness |
|
|
|
|
859 / 7739
|
14
|
(HPO:0001373)
|
Joint dislocation |
|
|
|
|
59 / 7739
|
15
|
(HPO:0012095)
|
Multiple joint dislocation |
|
|
|
|
24 / 7739
|
16
|
(HPO:0001388)
|
Joint laxity |
|
|
|
|
117 / 7739
|
17
|
(HPO:0001513)
|
Obesity |
|
|
|
|
172 / 7739
|
18
|
(HPO:0001762)
|
Talipes equinovarus |
|
|
|
|
309 / 7739
|
19
|
(HPO:0001763)
|
Pes planus |
|
|
|
|
176 / 7739
|
20
|
(HPO:0001852)
|
Sandal gap |
|
|
|
|
63 / 7739
|
21
|
(HPO:0002650)
|
Scoliosis |
|
|
|
|
705 / 7739
|
22
|
(HPO:0002673)
|
Coxa valga |
|
|
|
|
57 / 7739
|
23
|
(HPO:0002808)
|
Kyphosis |
|
|
|
|
289 / 7739
|
24
|
(HPO:0002812)
|
Coxa vara |
|
|
|
|
58 / 7739
|
25
|
(HPO:0002970)
|
Genu varum |
|
|
|
|
60 / 7739
|
26
|
(HPO:0003016)
|
Metaphyseal widening |
|
|
|
|
41 / 7739
|
27
|
(HPO:0003071)
|
Flattened epiphysis |
|
|
|
|
14 / 7739
|
28
|
(HPO:0003180)
|
Flat acetabular roof |
|
|
|
|
25 / 7739
|
29
|
(HPO:0003196)
|
Short nose |
|
|
|
|
264 / 7739
|
30
|
(HPO:0004233)
|
Advanced ossification of carpal bones |
|
|
|
|
14 / 7739
|
31
|
(HPO:0005067)
|
Proximal fibular overgrowth |
|
|
|
|
3 / 7739
|
32
|
(HPO:0005280)
|
Depressed nasal bridge |
|
|
|
|
381 / 7739
|
33
|
(HPO:0006243)
|
Phalangeal dislocation |
|
|
|
|
3 / 7739
|
34
|
(HPO:0006439)
|
Radioulnar dislocation |
|
|
|
|
3 / 7739
|
35
|
(HPO:0008082)
|
Medial deviation of the foot |
|
|
|
|
2 / 7739
|
36
|
(HPO:0008108)
|
Advanced tarsal ossification |
|
|
|
|
4 / 7739
|
37
|
(HPO:0009611)
|
Bifid distal phalanx of the thumb |
|
|
|
|
15 / 7739
|
38
|
(HPO:0010034)
|
Short 1st metacarpal |
|
|
|
|
19 / 7739
|
39
|
(HPO:0010068)
|
Broad first metatarsal |
|
|
|
|
3 / 7739
|
40
|
(HPO:0010743)
|
Short metatarsal |
|
|
|
|
56 / 7739
|
41
|
(HPO:0011800)
|
Midface retrusion |
|
|
|
|
221 / 7739
|
42
|
(HPO:0003498)
|
Disproportionate short stature |
|
|
|
|
28 / 7739
|
43
|
(OMIM)
|
Dwarfism, short-limb, prenatal onset |
|
|
|
|
2 / 7739
|
44
|
(OMIM)
|
Average adult height 114 cm |
|
|
|
|
1 / 7739
|
45
|
(OMIM)
|
Myopia, apparent with age |
|
|
|
|
1 / 7739
|
46
|
(OMIM)
|
Widened anterior ribs |
|
|
|
|
2 / 7739
|
47
|
(HPO:0002827)
|
Hip dislocation |
|
|
|
|
94 / 7739
|
48
|
(HPO:0002999)
|
Patellar dislocation |
|
|
|
|
46 / 7739
|
49
|
(HPO:0003042)
|
Elbow dislocation |
|
|
|
|
89 / 7739
|
50
|
(HPO:0003179)
|
Protrusio acetabuli |
|
|
|
|
37 / 7739
|
51
|
(HPO:0003834)
|
Shoulder dislocation |
|
|
|
|
28 / 7739
|
52
|
(HPO:0003994)
|
Dislocated wrist |
|
|
|
|
24 / 7739
|
53
|
(HPO:0005021)
|
Bilateral elbow dislocations |
|
|
|
|
24 / 7739
|
54
|
(OMIM)
|
Osteoarthritis, progressive |
|
|
|
|
1 / 7739
|
55
|
(HPO:0003417)
|
Coronal cleft vertebrae |
|
|
|
|
14 / 7739
|
56
|
(OMIM)
|
Sagittal cleft |
|
|
|
|
3 / 7739
|
57
|
(OMIM)
|
Marked lordosis |
|
|
|
|
1 / 7739
|
58
|
(OMIM)
|
Narrowness of intervertebral disc space |
|
|
|
|
1 / 7739
|
59
|
(OMIM)
|
Elevated greater trochanter |
|
|
|
|
1 / 7739
|
60
|
(OMIM)
|
'Swedish key' proximal femur (flat proximal femoral metaphysis with medial spike and exaggerated lesser tuberosity) |
|
|
|
|
1 / 7739
|
61
|
(OMIM)
|
'Monkey wrench' appearance of the femoral heads |
|
|
|
|
1 / 7739
|
62
|
(OMIM)
|
Short wide femoral neck |
|
|
|
|
3 / 7739
|
63
|
(MedDRA:10072883)
|
Brachydactyly |
|
|
|
|
153 / 7739
|
64
|
(OMIM)
|
Radial deviation of the fingers |
|
|
|
|
1 / 7739
|
65
|
(HPO:0009774)
|
Triangular shaped phalanges of the hand |
|
|
|
|
1 / 7739
|
66
|
(OMIM)
|
Accessory ossification proximal phalanx, 2nd digit |
|
|
|
|
1 / 7739
|
67
|
(HPO:0010049)
|
Short metacarpal |
|
|
|
|
99 / 7739
|
68
|
(OMIM)
|
Shortened distal phalanges |
|
|
|
|
1 / 7739
|
69
|
(OMIM)
|
Bifid distal phalanx of great toe |
|
|
|
|
1 / 7739
|
70
|
(OMIM)
|
Elongated second and third toes |
|
|
|
|
1 / 7739
|
71
|
(HPO:0008947)
|
Infantile muscular hypotonia |
|
|
|
|
482 / 7739
|
72
|
(HPO:0010547)
|
Muscle flaccidity |
|
|
|
|
466 / 7739
|