Symptom Information: Sort according to HPO 

1
 (HPO:0004437) Cranial hyperostosis Frequent [Orphanet] 55 / 7739
2
 (HPO:0002007) Frontal bossing Very frequent [Orphanet] 366 / 7739
3
 (HPO:0001252) Muscular hypotonia Frequent [Orphanet] 990 / 7739
4
 (HPO:0000926) Platyspondyly Very frequent [Orphanet] 150 / 7739
5
 (HPO:0004565) Severe platyspondyly 13 / 7739
6
 (HPO:0003027) Mesomelia Very frequent [Orphanet] 58 / 7739
7
 (HPO:0005280) Depressed nasal bridge Very frequent [Orphanet] 381 / 7739
8
 (HPO:0002650) Scoliosis Frequent [Orphanet] 705 / 7739
9
 (HPO:0001385) Hip dysplasia Frequent [Orphanet] 242 / 7739
10
 (HPO:0002812) Coxa vara 58 / 7739
11
 (HPO:0000518) Cataract Occasional [Orphanet] 454 / 7739
12
 (HPO:0004313) Decreased antibody level in blood 47 / 7739
13
 (HPO:0011800) Midface retrusion Very frequent [Orphanet] 221 / 7739
14
 (HPO:0002808) Kyphosis Frequent [Orphanet] 289 / 7739
15
 (HPO:0000938) Osteopenia 138 / 7739
16
 (HPO:0000463) Anteverted nares Very frequent [Orphanet] 305 / 7739
17
 (HPO:0005930) Abnormality of epiphysis morphology Very frequent [Orphanet] 119 / 7739
18
 (HPO:0003196) Short nose Very frequent [Orphanet] 264 / 7739
19
 (HPO:0001288) Gait disturbance Frequent [Orphanet] 318 / 7739
20
 (HPO:0002938) Lumbar hyperlordosis 73 / 7739
21
 (HPO:0003307) Hyperlordosis Very frequent [Orphanet] 122 / 7739
22
 (HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
23
 (HPO:0000944) Abnormality of the metaphyses Very frequent [Orphanet] 141 / 7739
24
 (HPO:0001382) Joint hypermobility Frequent [Orphanet] 231 / 7739
25
 (HPO:0001216) Delayed ossification of carpal bones 30 / 7739
26
 (HPO:0002750) Delayed skeletal maturation Very frequent [Orphanet] 250 / 7739
27
 (HPO:0000316) Hypertelorism 644 / 7739
28
 (HPO:0001163) Abnormality of the metacarpal bones Very frequent [Orphanet] 149 / 7739
29
 (HPO:0001249) Intellectual disability Occasional [HPO:probinson] 1089 / 7739
30
 (HPO:0001377) Limited elbow extension 38 / 7739
31
 (HPO:0001607) Subglottic stenosis 5 / 7739
32
 (HPO:0002651) Spondyloepimetaphyseal dysplasia 19 / 7739
33
 (HPO:0002751) Kyphoscoliosis 131 / 7739
34
 (HPO:0002942) Thoracic kyphosis 14 / 7739
35
 (HPO:0003025) Metaphyseal irregularity 42 / 7739
36
 (HPO:0003370) Flat capital femoral epiphysis 15 / 7739
37
 (HPO:0004315) IgG deficiency 38 / 7739
38
 (HPO:0004349) Reduced bone mineral density Very frequent [Orphanet] 165 / 7739
39
 (HPO:0004482) Relative macrocephaly 44 / 7739
40
 (HPO:0004586) Biconcave vertebral bodies 15 / 7739
41
 (HPO:0006336) Short dental roots 2 / 7739
42
 (HPO:0006887) Intellectual disability, progressive 68 / 7739
43
 (HPO:0007787) Posterior subcapsular cataract 20 / 7739
44
 (HPO:0008486) Lumbar interpedicular narrowing 1 / 7739
45
 (HPO:0008755) Laryngotracheomalacia 1 / 7739
46
 (HPO:0008873) Disproportionate short-limb short stature 39 / 7739
47
 (OMIM) Bilateral posterior subcapsular cataracts 1 / 7739
48
 (OMIM) Short upturned nose 6 / 7739
49
 (HPO:0000926) Platyspondyly 150 / 7739
50
 (OMIM) Relative increase in anterior vertebral body height 1 / 7739
51
 (OMIM) Posterior scalloping 2 / 7739
52
 (OMIM) Flattened capital femoral epiphyses 5 / 7739
53
 (OMIM) Mild mesomelia 1 / 7739
54
 (OMIM) Metaphyseal striations 2 / 7739
55
 (OMIM) Hypoplastic epiphyses 1 / 7739
56
 (OMIM) Delayed carpal bone ossification 1 / 7739
57
 (OMIM) Mental retardation, in subgroup of patients 1 / 7739
58
 (HPO:0010701) Abnormal immunoglobulin level Occasional [Orphanet] 49 / 7739
59
 (HPO:0012471) Thick vermilion border Frequent [Orphanet] 115 / 7739
60
 (HPO:0008905) Rhizomelia Very frequent [Orphanet] 85 / 7739
61
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
62
 (HPO:0000272) Malar flattening 277 / 7739