Symptom Information: Sort according to HPO 

1
 (HPO:0002007) Frontal bossing Occasional [Orphanet] 366 / 7739
2
 (HPO:0011220) Prominent forehead 137 / 7739
3
 (HPO:0000684) Delayed eruption of teeth Frequent [Orphanet] 117 / 7739
4
 (HPO:0010299) Abnormality of dentin Very frequent [Orphanet] 9 / 7739
5
 (HPO:0002093) Respiratory insufficiency Occasional [Orphanet] 410 / 7739
6
 (HPO:0002098) Respiratory distress 75 / 7739
7
 (HPO:0003196) Short nose Occasional [Orphanet] 264 / 7739
8
 (HPO:0006487) Bowing of the long bones Occasional [Orphanet] 95 / 7739
9
 (HPO:0000926) Platyspondyly Very frequent [Orphanet] 150 / 7739
10
 (HPO:0004565) Severe platyspondyly 13 / 7739
11
 (HPO:0010579) Cone-shaped epiphysis Very frequent [Orphanet] 54 / 7739
12
 (HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
13
 (HPO:0000486) Strabismus Occasional [Orphanet] 576 / 7739
14
 (HPO:0003027) Mesomelia Very frequent [Orphanet] 58 / 7739
15
 (HPO:0004279) Short palm Very frequent [Orphanet] 323 / 7739
16
 (HPO:0009803) Short phalanx of finger 79 / 7739
17
 (HPO:0000944) Abnormality of the metaphyses Very frequent [Orphanet] 141 / 7739
18
 (HPO:0001643) Patent ductus arteriosus Occasional [Orphanet] 228 / 7739
19
 (HPO:0000774) Narrow chest Very frequent [Orphanet] 167 / 7739
20
 (HPO:0001382) Joint hypermobility Very frequent [Orphanet] 231 / 7739
21
 (HPO:0005280) Depressed nasal bridge Occasional [Orphanet] 381 / 7739
22
 (HPO:0002650) Scoliosis Frequent [Orphanet] 705 / 7739
23
 (HPO:0001385) Hip dysplasia Frequent [Orphanet] 242 / 7739
24
 (HPO:0000275) Narrow face 76 / 7739
25
 (HPO:0000343) Long philtrum 262 / 7739
26
 (HPO:0000703) Dentinogenesis imperfecta 18 / 7739
27
 (HPO:0000768) Pectus carinatum 136 / 7739
28
 (HPO:0000939) Osteoporosis 129 / 7739
29
 (HPO:0001216) Delayed ossification of carpal bones 30 / 7739
30
 (HPO:0001270) Motor delay 322 / 7739
31
 (HPO:0002816) Genu recurvatum 30 / 7739
32
 (HPO:0002869) Flared iliac wings 20 / 7739
33
 (HPO:0002970) Genu varum 60 / 7739
34
 (HPO:0003026) Short long bone 51 / 7739
35
 (HPO:0003180) Flat acetabular roof 25 / 7739
36
 (HPO:0003417) Coronal cleft vertebrae 14 / 7739
37
 (HPO:0004625) Biconvex vertebral bodies 1 / 7739
38
 (HPO:0010049) Short metacarpal 99 / 7739
39
 (HPO:0010230) Cone-shaped epiphyses of the phalanges of the hand 34 / 7739
40
 (HPO:0010582) Irregular epiphyses 19 / 7739
41
 (HPO:0010585) Small epiphyses 16 / 7739
42
 (OMIM) Delayed tooth eruption, primary and secondary 1 / 7739
43
 (OMIM) Chondrocytes have large vacuoles of dilated rough endoplasmic reticulum on electron microscopy 1 / 7739
44
 (HPO:0000926) Platyspondyly 150 / 7739
45
 (OMIM) Small sciatic notch 1 / 7739
46
 (OMIM) Lacy iliac wings 2 / 7739
47
 (OMIM) Broad, cupped metaphyses 1 / 7739
48
 (OMIM) 'Banana peel' configuration of distal radius 1 / 7739
49
 (OMIM) Irregular, small epiphyses 6 / 7739
50
 (OMIM) Brachydactyly, mild 5 / 7739
51
 (OMIM) Abnormal electrophoretic mobility of type II collagen 1 / 7739
52
 (HPO:0000277) Abnormality of the mandible Occasional [Orphanet] 394 / 7739
53
 (HPO:0001522) Death in infancy Occasional [Orphanet] 275 / 7739
54
 (HPO:0011867) Abnormality of the wing of the ilium Frequent [Orphanet] 123 / 7739
55
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
56
 (HPO:0002657) Spondylometaphyseal dysplasia 12 / 7739
57
 (HPO:0003016) Metaphyseal widening 41 / 7739
58
 (HPO:0003021) Metaphyseal cupping 16 / 7739