Symptom Information: Sort according to HPO 

1
 (HPO:0004760) Congenital septal defect Occasional [Orphanet] 69 / 7739
2
 (HPO:0000175) Cleft palate 31% [HPO] 349 / 7739
3
 (HPO:0001762) Talipes equinovarus Very frequent [Orphanet] 309 / 7739
4
 (HPO:0001840) Metatarsus adductus 49 / 7739
5
 (HPO:0000545) Myopia Occasional [Orphanet] 286 / 7739
6
 (HPO:0000926) Platyspondyly Very frequent [Orphanet] 150 / 7739
7
 (HPO:0000592) Blue sclerae Very frequent [Orphanet] 85 / 7739
8
 (HPO:0000520) Proptosis Very frequent [Orphanet] 192 / 7739
9
 (HPO:0003042) Elbow dislocation Very frequent [Orphanet] 89 / 7739
10
 (HPO:0000218) High palate 12% [HPO] 356 / 7739
11
 (HPO:0002705) High, narrow palate Frequent [Orphanet] 308 / 7739
12
 (HPO:0002650) Scoliosis Very frequent [Orphanet] 705 / 7739
13
 (HPO:0001385) Hip dysplasia Very frequent [Orphanet] 242 / 7739
14
 (HPO:0002673) Coxa valga 57 / 7739
15
 (HPO:0002827) Hip dislocation 94 / 7739
16
 (HPO:0002652) Skeletal dysplasia Very frequent [Orphanet] 113 / 7739
17
 (HPO:0004599) Absent or minimally ossified vertebral bodies Frequent [Orphanet] 18 / 7739
18
 (HPO:0002808) Kyphosis Very frequent [Orphanet] 289 / 7739
19
 (HPO:0005930) Abnormality of epiphysis morphology Very frequent [Orphanet] 119 / 7739
20
 (HPO:0001373) Joint dislocation Very frequent [Orphanet] 59 / 7739
21
 (HPO:0000974) Hyperextensible skin Very frequent [Orphanet] 59 / 7739
22
 (HPO:0002251) Aganglionic megacolon Occasional [Orphanet] 78 / 7739
23
 (HPO:0003307) Hyperlordosis Frequent [Orphanet] 122 / 7739
24
 (HPO:0003510) Severe short stature 90 / 7739
25
 (HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
26
 (HPO:0001083) Ectopia lentis Occasional [Orphanet] 45 / 7739
27
 (HPO:0100777) Exostoses Occasional [Orphanet] 32 / 7739
28
 (HPO:0004279) Short palm Very frequent [Orphanet] 323 / 7739
29
 (HPO:0000944) Abnormality of the metaphyses Very frequent [Orphanet] 141 / 7739
30
 (HPO:0001382) Joint hypermobility Very frequent [Orphanet] 231 / 7739
31
 (HPO:0001388) Joint laxity 117 / 7739
32
 (HPO:0002983) Micromelia Very frequent [Orphanet] 130 / 7739
33
 (HPO:0000343) Long philtrum Very frequent [Orphanet] 262 / 7739
34
 (HPO:0000272) Malar flattening 277 / 7739
35
 (HPO:0000300) Oval face 5 / 7739
36
 (HPO:0000347) Micrognathia 426 / 7739
37
 (HPO:0000470) Short neck 345 / 7739
38
 (HPO:0000878) 11 pairs of ribs 19 / 7739
39
 (HPO:0000887) Cupped ribs 9 / 7739
40
 (HPO:0000904) Flaring of rib cage 4 / 7739
41
 (HPO:0000939) Osteoporosis 129 / 7739
42
 (HPO:0001027) Soft, doughy skin 3 / 7739
43
 (HPO:0001030) Fragile skin 25 / 7739
44
 (HPO:0001252) Muscular hypotonia 990 / 7739
45
 (HPO:0001324) Muscle weakness 859 / 7739
46
 (HPO:0001371) Flexion contracture 220 / 7739
47
 (HPO:0001629) Ventricular septal defect 316 / 7739
48
 (HPO:0001631) Atria septal defect 274 / 7739
49
 (HPO:0001647) Bicuspid aortic valve 34 / 7739
50
 (HPO:0001653) Mitral regurgitation 64 / 7739
51
 (HPO:0001763) Pes planus 176 / 7739
52
 (HPO:0001799) Short nail 12 / 7739
53
 (HPO:0001822) Hallux valgus 70 / 7739
54
 (HPO:0002176) Spinal cord compression 15 / 7739
55
 (HPO:0002209) Sparse scalp hair 59 / 7739
56
 (HPO:0002651) Spondyloepimetaphyseal dysplasia 19 / 7739
57
 (HPO:0002751) Kyphoscoliosis 131 / 7739
58
 (HPO:0002756) Pathologic fracture 30 / 7739
59
 (HPO:0002857) Genu valgum 80% [HPO:probinson] 144 / 7739
60
 (HPO:0002869) Flared iliac wings 20 / 7739
61
 (HPO:0002986) Radial bowing 27 / 7739
62
 (HPO:0003015) Flared metaphysis 44 / 7739
63
 (HPO:0003026) Short long bone 51 / 7739
64
 (HPO:0003048) Radial head subluxation 6 / 7739
65
 (HPO:0003083) Dislocated radial head 35 / 7739
66
 (HPO:0003100) Slender long bone 45 / 7739
67
 (HPO:0003300) Ovoid vertebral bodies 21 / 7739
68
 (HPO:0003301) Irregular vertebral endplates 25 / 7739
69
 (HPO:0000926) Platyspondyly 150 / 7739
70
 (HPO:0004233) Advanced ossification of carpal bones 14 / 7739
71
 (HPO:0004325) Decreased body weight 492 / 7739
72
 (HPO:0008012) Congenital myopia 2 / 7739
73
 (HPO:0008818) Large iliac wings 1 / 7739
74
 (HPO:0008824) Hypoplastic iliac body 3 / 7739
75
 (HPO:0009702) Carpal synostosis rare [HPO:skoehler] 26 / 7739
76
 (HPO:0009836) Broad distal phalanx of finger 8 / 7739
77
 (HPO:0010049) Short metacarpal 99 / 7739
78
 (HPO:0010550) Paraplegia 10 / 7739
79
 (HPO:0011220) Prominent forehead 137 / 7739
80
 (HPO:0011341) Long upper lip 5 / 7739
81
 (HPO:0100864) Short femoral neck 36 / 7739
82
 (OMIM) Thoracic asymmetry 2 / 7739
83
 (OMIM) Kyphoscoliosis, progressive 3 / 7739
84
 (OMIM) Gross spinal malalignment 1 / 7739
85
 (OMIM) Anterior beak of vertebral body 2 / 7739
86
 (OMIM) Large, flared iliac wings 1 / 7739
87
 (OMIM) Narrow pubic bones 1 / 7739
88
 (OMIM) Delayed ossification of femoral capital epiphyses 1 / 7739
89
 (OMIM) Prominent lesser trochanter 2 / 7739
90
 (OMIM) Restricted elbow movement 2 / 7739
91
 (OMIM) Elbow malalignment 2 / 7739
92
 (OMIM) Short, slender long bones 1 / 7739
93
 (HPO:0003016) Metaphyseal widening 41 / 7739
94
 (OMIM) Epiphyseal dysplasia of femoral head 2 / 7739
95
 (OMIM) Abnormal trabecular pattern 1 / 7739
96
 (OMIM) Hypermobile digits 1 / 7739
97
 (OMIM) Hand contracture (rare) 2 / 7739
98
 (OMIM) Mild skin hyperextensibility 1 / 7739
99
 (OMIM) Atrophic scarring 9 / 7739
100
 (OMIM) Palmar wrinkling 1 / 7739
101
 (OMIM) Foreshortened nails 1 / 7739
102
 (HPO:0008947) Infantile muscular hypotonia 482 / 7739
103
 (HPO:0010547) Muscle flaccidity 466 / 7739
104
 (HPO:0011867) Abnormality of the wing of the ilium Very frequent [Orphanet] 123 / 7739
105
 (HPO:0000174) Abnormality of the palate Frequent [Orphanet] 298 / 7739
106
 (HPO:0006494) Aplasia/Hypoplasia involving bones of the feet Very frequent [Orphanet] 69 / 7739
107
 (HPO:0012758) Neurodevelopmental delay Occasional [Orphanet] 949 / 7739
108
 (HPO:0001522) Death in infancy Occasional [Orphanet] 275 / 7739
109
 (HPO:0011849) Abnormal bone ossification Very frequent [Orphanet] 35 / 7739
110
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
111
 (HPO:0008828) Delayed proximal femoral epiphyseal ossification 2 / 7739
112
 (HPO:0012368) Flat face 106 / 7739
113
 (HPO:0030043) Hip Subluxation 9 / 7739
114
 (HPO:0011800) Midface retrusion 221 / 7739