Symptom Information: Sort according to HPO 

1
 (HPO:0000218) High palate 356 / 7739
2
 (HPO:0000316) Hypertelorism 644 / 7739
3
 (HPO:0000337) Broad forehead Frequent [HPO:probinson] 116 / 7739
4
 (HPO:0000343) Long philtrum Frequent [HPO:probinson] 262 / 7739
5
 (HPO:0000365) Hearing impairment 539 / 7739
6
 (HPO:0000470) Short neck 345 / 7739
7
 (HPO:0000535) Sparse and thin eyebrow Frequent [HPO:probinson] 76 / 7739
8
 (HPO:0000684) Delayed eruption of teeth 117 / 7739
9
 (HPO:0000687) Widely spaced teeth 40 / 7739
10
 (HPO:0000691) Microdontia 104 / 7739
11
 (HPO:0001156) Brachydactyly syndrome 180 / 7739
12
 (HPO:0001552) Barrel-shaped chest 31 / 7739
13
 (HPO:0001629) Ventricular septal defect 316 / 7739
14
 (HPO:0001642) Pulmonic stenosis 89 / 7739
15
 (HPO:0001650) Aortic valve stenosis 49 / 7739
16
 (HPO:0001653) Mitral regurgitation 64 / 7739
17
 (HPO:0001659) Aortic regurgitation 36 / 7739
18
 (HPO:0001714) Ventricular hypertrophy 20 / 7739
19
 (HPO:0001718) Mitral stenosis 10 / 7739
20
 (HPO:0001762) Talipes equinovarus 309 / 7739
21
 (HPO:0001763) Pes planus 176 / 7739
22
 (HPO:0002092) Pulmonary hypertension 109 / 7739
23
 (HPO:0002194) Delayed gross motor development 37 / 7739
24
 (HPO:0002515) Waddling gait 56 / 7739
25
 (HPO:0002553) Highly arched eyebrow Frequent [HPO:probinson] 92 / 7739
26
 (HPO:0002655) Spondyloepiphyseal dysplasia 21 / 7739
27
 (HPO:0002750) Delayed skeletal maturation 250 / 7739
28
 (HPO:0002751) Kyphoscoliosis 131 / 7739
29
 (HPO:0002829) Arthralgia 79 / 7739
30
 (HPO:0002857) Genu valgum 144 / 7739
31
 (HPO:0002938) Lumbar hyperlordosis 73 / 7739
32
 (HPO:0002945) Intervertebral space narrowing 7 / 7739
33
 (HPO:0002967) Cubitus valgus 49 / 7739
34
 (HPO:0002982) Tibial bowing 36 / 7739
35
 (HPO:0003022) Hypoplasia of the ulna 40 / 7739
36
 (HPO:0003031) Ulnar bowing 16 / 7739
37
 (HPO:0003040) Arthropathy 19 / 7739
38
 (HPO:0003042) Elbow dislocation 89 / 7739
39
 (HPO:0003071) Flattened epiphysis 14 / 7739
40
 (HPO:0003090) Hypoplasia of the capital femoral epiphysis 15 / 7739
41
 (HPO:0003093) Limited hip extension 4 / 7739
42
 (HPO:0003184) Decreased hip abduction 7 / 7739
43
 (HPO:0003301) Irregular vertebral endplates 25 / 7739
44
 (HPO:0003417) Coronal cleft vertebrae 14 / 7739
45
 (HPO:0003834) Shoulder dislocation 28 / 7739
46
 (HPO:0004976) Knee dislocation 6 / 7739
47
 (HPO:0005180) Tricuspid regurgitation 20 / 7739
48
 (HPO:0006067) Multiple carpal ossification centers 2 / 7739
49
 (HPO:0006462) Generalized bone demineralization 11 / 7739
50
 (HPO:0006471) Fixed elbow flexion 1 / 7739
51
 (HPO:0006610) Wide intermamillary distance 46 / 7739
52
 (HPO:0000954) Single transverse palmar crease 162 / 7739
53
 (HPO:0007598) Bilateral single transverse palmar creases 13 / 7739
54
 (HPO:0008450) Narrow vertebral interpedicular distance 6 / 7739
55
 (HPO:0008551) Microtia 98 / 7739
56
 (HPO:0008905) Rhizomelia 85 / 7739
57
 (HPO:0009179) Deviation of the 5th finger 1 / 7739
58
 (HPO:0009803) Short phalanx of finger 79 / 7739
59
 (HPO:0009882) Short distal phalanx of finger 125 / 7739
60
 (HPO:0010049) Short metacarpal 99 / 7739
61
 (HPO:0010446) Tricuspid stenosis 5 / 7739
62
 (HPO:0010585) Small epiphyses 16 / 7739
63
 (HPO:0100490) Camptodactyly of finger 212 / 7739
64
 (HPO:0100864) Short femoral neck 36 / 7739
65
 (OMIM) Birth length normal 15 / 7739
66
 (OMIM) Length <3rd percentile by 6 months 1 / 7739
67
 (OMIM) Short stature, prenatal and postnatal 1 / 7739
68
 (OMIM) Adult height 110-130cm 1 / 7739
69
 (OMIM) Sparse and high-arched eyebrows (in some patients) 1 / 7739
70
 (OMIM) Delayed dentition 5 / 7739
71
 (OMIM) Hypertrophy of all 4 chambers of heart 1 / 7739
72
 (OMIM) Mitral valve, thickening to severe stenosis 1 / 7739
73
 (OMIM) Mitral regurgitation, mild to moderate 1 / 7739
74
 (OMIM) Tricuspid valve, thickening to severe stenosis 1 / 7739
75
 (OMIM) Tricuspid regurgitation, moderate 1 / 7739
76
 (OMIM) Aortic valve, mild stenosis 1 / 7739
77
 (OMIM) Aortic regurgitation, moderate 1 / 7739
78
 (OMIM) Pulmonary valve, mild stenosis 1 / 7739
79
 (OMIM) Hunched up shoulders (more prominent in adults) 1 / 7739
80
 (OMIM) Diffuse osseous demineralization 1 / 7739
81
 (OMIM) Joint dislocations, congenital or in young adult (knee, hip, shoulder) 1 / 7739
82
 (OMIM) Joint contractures, onset school age (shoulder, ankle) 1 / 7739
83
 (HPO:0002808) Kyphosis 289 / 7739
84
 (HPO:0002650) Scoliosis 705 / 7739
85
 (OMIM) Kyphoscoliosis, severe progressive (>12 years old) 1 / 7739
86
 (OMIM) Intervertebral space narrowing, progressive 1 / 7739
87
 (OMIM) Endplate irregularity, progressive 1 / 7739
88
 (OMIM) Interpedicular distance widened at L1 on anteroposterior projection 1 / 7739
89
 (OMIM) Interpedicular distance narrowed in lumbar area 1 / 7739
90
 (OMIM) Short and cleft vertebral bodies on lateral projection 1 / 7739
91
 (OMIM) Vertebral body notching, superior and inferior 1 / 7739
92
 (OMIM) Limited hip abduction/extension (progressive from birth) 1 / 7739
93
 (OMIM) Iliac bones widened 1 / 7739
94
 (OMIM) Iliac bones prominent 1 / 7739
95
 (OMIM) Elbow dislocation/subluxation 1 / 7739
96
 (OMIM) Joint enlargement (knee, elbow, wrist) 1 / 7739
97
 (OMIM) Rhizomelic shortening 12 / 7739
98
 (HPO:0006487) Bowing of the long bones 95 / 7739
99
 (OMIM) Arthropathy, progressive 1 / 7739
100
 (OMIM) Small flat epiphyses 2 / 7739
101
 (OMIM) Humerus, distal bifurcation (in some patients) 1 / 7739
102
 (OMIM) Ulna, proximal bowing 1 / 7739
103
 (OMIM) Ulna, shortened 1 / 7739
104
 (OMIM) Knee dislocation/subluxation 1 / 7739
105
 (OMIM) Knee extension limited 1 / 7739
106
 (OMIM) Capital femoral epiphyses, hypoplasia of 1 / 7739
107
 (OMIM) Tibia, anterolateral bowing 1 / 7739
108
 (OMIM) Long bones of legs, hypotubulation of 1 / 7739
109
 (MedDRA:10072883) Brachydactyly 153 / 7739
110
 (HPO:0001215) Camptodactyly of 2nd-5th fingers 8 / 7739
111
 (HPO:0001836) Camptodactyly of toe 27 / 7739
112
 (HPO:0012385) Camptodactyly 113 / 7739
113
 (OMIM) Interdigital skin webs 1 / 7739
114
 (OMIM) Accessory carpal ossification centers 1 / 7739
115
 (OMIM) Variable metacarpal shortening 1 / 7739
116
 (OMIM) Accessory ossification centers 1 / 7739
117
 (OMIM) Normal intelligence 81 / 7739
118
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
119
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739