Symptom Information: Sort according to HPO 

1
 (HPO:0001387) Joint stiffness Frequent [Orphanet] 322 / 7739
2
 (HPO:0000175) Cleft palate 349 / 7739
3
 (HPO:0001762) Talipes equinovarus Frequent [Orphanet] 309 / 7739
4
 (HPO:0002758) Osteoarthritis Frequent [Orphanet] 78 / 7739
5
 (HPO:0000545) Myopia Occasional [Orphanet] 286 / 7739
6
 (HPO:0000316) Hypertelorism Frequent [Orphanet] 644 / 7739
7
 (HPO:0005257) Thoracic hypoplasia Very frequent [Orphanet] 79 / 7739
8
 (HPO:0000774) Narrow chest Very frequent [Orphanet] 167 / 7739
9
 (HPO:0002650) Scoliosis Occasional [Orphanet] 705 / 7739
10
 (HPO:0001385) Hip dysplasia Frequent [Orphanet] 242 / 7739
11
 (HPO:0002812) Coxa vara 58 / 7739
12
 (HPO:0002827) Hip dislocation 94 / 7739
13
 (HPO:0000639) Nystagmus Occasional [Orphanet] 555 / 7739
14
 (HPO:0000518) Cataract Occasional [Orphanet] 454 / 7739
15
 (HPO:0002652) Skeletal dysplasia Very frequent [Orphanet] 113 / 7739
16
 (HPO:0000470) Short neck Very frequent [Orphanet] 345 / 7739
17
 (HPO:0000365) Hearing impairment Occasional [Orphanet] 539 / 7739
18
 (HPO:0000501) Glaucoma Occasional [Orphanet] 180 / 7739
19
 (HPO:0002808) Kyphosis Occasional [Orphanet] 289 / 7739
20
 (HPO:0000541) Retinal detachment Occasional [Orphanet] 87 / 7739
21
 (HPO:0005930) Abnormality of epiphysis morphology Very frequent [Orphanet] 119 / 7739
22
 (HPO:0000337) Broad forehead Frequent [Orphanet] 116 / 7739
23
 (HPO:0003312) Abnormal form of the vertebral bodies Very frequent [Orphanet] 172 / 7739
24
 (HPO:0002938) Lumbar hyperlordosis 73 / 7739
25
 (HPO:0003307) Hyperlordosis Frequent [Orphanet] 122 / 7739
26
 (HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
27
 (HPO:0002983) Micromelia Very frequent [Orphanet] 130 / 7739
28
 (HPO:0012368) Flat face Frequent [Orphanet] 106 / 7739
29
 (HPO:0000272) Malar flattening 277 / 7739
30
 (HPO:0000655) Vitreoretinal degeneration 8 / 7739
31
 (HPO:0000768) Pectus carinatum 136 / 7739
32
 (HPO:0000926) Platyspondyly 150 / 7739
33
 (HPO:0001252) Muscular hypotonia 990 / 7739
34
 (HPO:0001324) Muscle weakness 859 / 7739
35
 (HPO:0001552) Barrel-shaped chest 31 / 7739
36
 (HPO:0002091) Restrictive ventilatory defect 46 / 7739
37
 (HPO:0002098) Respiratory distress 75 / 7739
38
 (HPO:0002318) Cervical myelopathy 10 / 7739
39
 (HPO:0002515) Waddling gait 56 / 7739
40
 (HPO:0002996) Limited elbow movement 16 / 7739
41
 (HPO:0003071) Flattened epiphysis 14 / 7739
42
 (HPO:0003300) Ovoid vertebral bodies 21 / 7739
43
 (HPO:0003311) Hypoplasia of the odontoid process 34 / 7739
44
 (HPO:0008142) Delayed calcaneal ossification 1 / 7739
45
 (HPO:0008788) Delayed pubic bone ossification 5 / 7739
46
 (HPO:0008800) Limited hip movement 3 / 7739
47
 (HPO:0008857) Neonatal short-trunk short stature 1 / 7739
48
 (HPO:0010501) Limitation of knee mobility 2 / 7739
49
 (OMIM) Dwarfism, short-trunk, identifiable at birth 1 / 7739
50
 (OMIM) Final adult height, 84-128cm 1 / 7739
51
 (OMIM) Specific growth curves are available 5 / 7739
52
 (OMIM) Diminished joint mobility at elbows, knees, and hips 1 / 7739
53
 (OMIM) Absent talus and calcaneal ossification in infancy 1 / 7739
54
 (HPO:0008947) Infantile muscular hypotonia 482 / 7739
55
 (HPO:0010547) Muscle flaccidity 466 / 7739
56
 (HPO:0000174) Abnormality of the palate Frequent [Orphanet] 298 / 7739
57
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
58
 (HPO:0002655) Spondyloepiphyseal dysplasia 21 / 7739