Symptom Information: Sort according to HPO 

1
 (HPO:0001387) Joint stiffness Frequent [Orphanet] 322 / 7739
2
 (HPO:0011001) Increased bone mineral density Very frequent [Orphanet] 78 / 7739
3
 (HPO:0001252) Muscular hypotonia Frequent [Orphanet] 990 / 7739
4
 (HPO:0000175) Cleft palate 349 / 7739
5
 (HPO:0002093) Respiratory insufficiency Frequent [Orphanet] 410 / 7739
6
 (HPO:0000316) Hypertelorism Frequent [Orphanet] 644 / 7739
7
 (HPO:0000592) Blue sclerae Frequent [Orphanet] 85 / 7739
8
 (HPO:0000202) Oral cleft Frequent [Orphanet] 120 / 7739
9
 (HPO:0000293) Full cheeks Frequent [Orphanet] 85 / 7739
10
 (HPO:0003042) Elbow dislocation Occasional [Orphanet] 89 / 7739
11
 (HPO:0005280) Depressed nasal bridge Very frequent [Orphanet] 381 / 7739
12
 (HPO:0000256) Macrocephaly Very frequent [Orphanet] 298 / 7739
13
 (HPO:0001385) Hip dysplasia Frequent [Orphanet] 242 / 7739
14
 (HPO:0002650) Scoliosis Very frequent [Orphanet] 705 / 7739
15
 (HPO:0009748) Large earlobe Very frequent [Orphanet] 27 / 7739
16
 (HPO:0000365) Hearing impairment Occasional [Orphanet] 539 / 7739
17
 (HPO:0002205) Recurrent respiratory infections Frequent [Orphanet] 254 / 7739
18
 (HPO:0009700) Finger symphalangism Very frequent [Orphanet] 55 / 7739
19
 (HPO:0002808) Kyphosis Frequent [Orphanet] 289 / 7739
20
 (HPO:0005930) Abnormality of epiphysis morphology Very frequent [Orphanet] 119 / 7739
21
 (HPO:0001373) Joint dislocation Frequent [Orphanet] 59 / 7739
22
 (HPO:0100490) Camptodactyly of finger Frequent [Orphanet] 212 / 7739
23
 (HPO:0000974) Hyperextensible skin Occasional [Orphanet] 59 / 7739
24
 (HPO:0003312) Abnormal form of the vertebral bodies Very frequent [Orphanet] 172 / 7739
25
 (HPO:0006487) Bowing of the long bones Very frequent [Orphanet] 95 / 7739
26
 (HPO:0009465) Ulnar deviation of finger Frequent [Orphanet] 48 / 7739
27
 (HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
28
 (HPO:0001511) Intrauterine growth retardation Very frequent [Orphanet] 358 / 7739
29
 (HPO:0006660) Aplastic clavicles Very frequent [Orphanet] 70 / 7739
30
 (HPO:0002514) Cerebral calcification Occasional [Orphanet] 89 / 7739
31
 (HPO:0004279) Short palm Very frequent [Orphanet] 323 / 7739
32
 (HPO:0009381) Short finger 45 / 7739
33
 (HPO:0000944) Abnormality of the metaphyses Very frequent [Orphanet] 141 / 7739
34
 (HPO:0001382) Joint hypermobility Occasional [Orphanet] 231 / 7739
35
 (HPO:0009623) Proximal placement of thumb Very frequent [Orphanet] 50 / 7739
36
 (HPO:0002983) Micromelia Very frequent [Orphanet] 130 / 7739
37
 (HPO:0010650) Hypoplasia of the premaxilla Very frequent [Orphanet] 39 / 7739
38
 (HPO:0100761) Visceral angiomatosis Occasional [Orphanet] 21 / 7739
39
 (HPO:0000772) Abnormality of the ribs Very frequent [Orphanet] 146 / 7739
40
 (HPO:0001076) Glabellar hemangioma 4 / 7739
41
 (HPO:0001163) Abnormality of the metacarpal bones Very frequent [Orphanet] 149 / 7739
42
 (HPO:0001234) Hitchhiker thumb 5 / 7739
43
 (HPO:0001609) Hoarse voice 34 / 7739
44
 (HPO:0001762) Talipes equinovarus 309 / 7739
45
 (HPO:0002176) Spinal cord compression 15 / 7739
46
 (HPO:0002751) Kyphoscoliosis 131 / 7739
47
 (HPO:0002947) Cervical kyphosis 6 / 7739
48
 (HPO:0003026) Short long bone 51 / 7739
49
 (HPO:0003071) Flattened epiphysis 14 / 7739
50
 (HPO:0003273) Hip contracture 30 / 7739
51
 (HPO:0004894) Laryngotracheal stenosis 2 / 7739
52
 (HPO:0006646) Costal cartilage calcification 3 / 7739
53
 (HPO:0008434) Hypoplastic cervical vertebrae 4 / 7739
54
 (HPO:0008608) Hypertrophic auricular cartilage 1 / 7739
55
 (HPO:0008873) Disproportionate short-limb short stature 39 / 7739
56
 (HPO:0008921) Neonatal short-limb short stature 12 / 7739
57
 (HPO:0010582) Irregular epiphyses 19 / 7739
58
 (HPO:0010723) Cystic lesions of the pinnae 1 / 7739
59
 (OMIM) Mean birth length 42cm, specific growth curve available 1 / 7739
60
 (OMIM) Adult height 100-140cm 1 / 7739
61
 (OMIM) Normocephaly 10 / 7739
62
 (OMIM) Neonatal cystic lesions of the pinnae 1 / 7739
63
 (OMIM) Ossified pinnae 1 / 7739
64
 (OMIM) Short, thick tubular bone, with broad metaphyses and flattened, irregular epiphyses 1 / 7739
65
 (OMIM) Subluxed patella 1 / 7739
66
 (OMIM) Short finger with ulnar deviation 1 / 7739
67
 (OMIM) Normal intelligence 81 / 7739
68
 (OMIM) Characteristic hoarse voice 1 / 7739
69
 (HPO:0000174) Abnormality of the palate Frequent [Orphanet] 298 / 7739
70
 (HPO:0000035) Abnormality of the testis Occasional [Orphanet] 296 / 7739
71
 (HPO:0008544) Abnormally folded helix Frequent [Orphanet] 24 / 7739
72
 (HPO:0008905) Rhizomelia Very frequent [Orphanet] 85 / 7739
73
 (HPO:0000277) Abnormality of the mandible Occasional [Orphanet] 394 / 7739
74
 (HPO:0000357) Abnormal location of ears Frequent [Orphanet] 328 / 7739
75
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739