Symptom Information: Sort according to HPO 

1
 (HPO:0002007) Frontal bossing Frequent [Orphanet] 366 / 7739
2
 (HPO:0001252) Muscular hypotonia Occasional [Orphanet] 990 / 7739
3
 (HPO:0001324) Muscle weakness 859 / 7739
4
 (HPO:0001602) Laryngeal stenosis Frequent [Orphanet] 21 / 7739
5
 (HPO:0002857) Genu valgum Frequent [Orphanet] 144 / 7739
6
 (HPO:0003045) Abnormality of the patella Frequent [Orphanet] 33 / 7739
7
 (HPO:0002758) Osteoarthritis Frequent [Orphanet] 78 / 7739
8
 (HPO:0000926) Platyspondyly Very frequent [Orphanet] 150 / 7739
9
 (HPO:0000445) Wide nose Frequent [Orphanet] 190 / 7739
10
 (HPO:0002779) Tracheomalacia Frequent [Orphanet] 26 / 7739
11
 (HPO:0001805) Thick nail Frequent [Orphanet] 96 / 7739
12
 (HPO:0100625) Enlarged thorax Frequent [Orphanet] 15 / 7739
13
 (HPO:0005280) Depressed nasal bridge Very frequent [Orphanet] 381 / 7739
14
 (HPO:0000256) Macrocephaly Frequent [Orphanet] 298 / 7739
15
 (HPO:0002650) Scoliosis Very frequent [Orphanet] 705 / 7739
16
 (HPO:0001385) Hip dysplasia Very frequent [Orphanet] 242 / 7739
17
 (HPO:0003019) Abnormality of the wrist Very frequent [Orphanet] 52 / 7739
18
 (HPO:0002970) Genu varum Occasional [Orphanet] 60 / 7739
19
 (HPO:0002652) Skeletal dysplasia Very frequent [Orphanet] 113 / 7739
20
 (HPO:0000470) Short neck Occasional [Orphanet] 345 / 7739
21
 (HPO:0002823) Abnormality of the femur Very frequent [Orphanet] 61 / 7739
22
 (HPO:0011800) Midface retrusion Very frequent [Orphanet] 221 / 7739
23
 (HPO:0002808) Kyphosis Very frequent [Orphanet] 289 / 7739
24
 (HPO:0000463) Anteverted nares Frequent [Orphanet] 305 / 7739
25
 (HPO:0005930) Abnormality of epiphysis morphology Very frequent [Orphanet] 119 / 7739
26
 (HPO:0001373) Joint dislocation Very frequent [Orphanet] 59 / 7739
27
 (HPO:0003196) Short nose Frequent [Orphanet] 264 / 7739
28
 (HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 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:0001763) Pes planus Occasional [Orphanet] 176 / 7739
33
 (HPO:0002983) Micromelia Very frequent [Orphanet] 130 / 7739
34
 (HPO:0005107) Abnormality of the sacrum Frequent [Orphanet] 18 / 7739
35
 (HPO:0000977) Soft skin 23 / 7739
36
 (HPO:0001163) Abnormality of the metacarpal bones Very frequent [Orphanet] 149 / 7739
37
 (HPO:0001374) Congenital hip dislocation 51 / 7739
38
 (HPO:0001498) Carpal bone hypoplasia 17 / 7739
39
 (HPO:0002651) Spondyloepimetaphyseal dysplasia 19 / 7739
40
 (HPO:0003015) Flared metaphysis 44 / 7739
41
 (HPO:0003025) Metaphyseal irregularity 42 / 7739
42
 (HPO:0003083) Dislocated radial head 35 / 7739
43
 (HPO:0003090) Hypoplasia of the capital femoral epiphysis 15 / 7739
44
 (HPO:0003301) Irregular vertebral endplates 25 / 7739
45
 (HPO:0003370) Flat capital femoral epiphysis 15 / 7739
46
 (HPO:0005008) Large joint dislocations 1 / 7739
47
 (HPO:0005092) Streaky metaphyseal sclerosis 2 / 7739
48
 (HPO:0005121) Posterior scalloping of vertebral bodies 4 / 7739
49
 (HPO:0006016) Delayed phalangeal epiphyseal ossification 1 / 7739
50
 (HPO:0006127) Long proximal phalanx of finger 1 / 7739
51
 (HPO:0006454) Delayed patellar ossification 1 / 7739
52
 (HPO:0008457) Caudal interpedicular narrowing 1 / 7739
53
 (HPO:0008819) Narrow femoral neck 2 / 7739
54
 (HPO:0009836) Broad distal phalanx of finger 8 / 7739
55
 (HPO:0010301) Spinal dysraphism 14 / 7739
56
 (HPO:0010582) Irregular epiphyses 12966527 IBIS 19 / 7739
57
 (HPO:0010585) Small epiphyses 16 / 7739
58
 (HPO:0012296) Slender distal phalanx of finger 1 / 7739
59
 (HPO:0012297) Slender proximal phalanx of finger 1 / 7739
60
 (HPO:0012299) Long distal phalanx of finger 1 / 7739
61
 (OMIM) Sacral spinal dysraphism 1 / 7739
62
 (OMIM) Small flattened capital femoral epiphyses 1 / 7739
63
 (OMIM) Tapered ischia 1 / 7739
64
 (OMIM) Small, flattened irregular epiphyses 1 / 7739
65
 (OMIM) Irregular, flared metaphyses with streaky sclerosis 1 / 7739
66
 (OMIM) Gracile metacarpals 1 / 7739
67
 (OMIM) Long, slender middle and proximal phalanges 1 / 7739
68
 (OMIM) Prominent distal phalangeal tufts 1 / 7739
69
 (OMIM) Severe delay in phalangeal epiphyseal bone maturation 1 / 7739
70
 (MedDRA:10070939) Wound healing normal 5 / 7739
71
 (HPO:0008947) Infantile muscular hypotonia 482 / 7739
72
 (HPO:0010547) Muscle flaccidity 466 / 7739
73
 (HPO:0012758) Neurodevelopmental delay Frequent [Orphanet] 949 / 7739
74
 (HPO:0011849) Abnormal bone ossification Very frequent [Orphanet] 35 / 7739
75
 (HPO:0000357) Abnormal location of ears Occasional [Orphanet] 328 / 7739
76
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
77
 (HPO:0000272) Malar flattening 277 / 7739