Symptom Information: Sort according to HPO 

1
 (HPO:0001387) Joint stiffness Occasional [Orphanet] 322 / 7739
2
 (HPO:0003416) Spinal canal stenosis Occasional [Orphanet] 28 / 7739
3
 (HPO:0001513) Obesity Frequent [Orphanet] 172 / 7739
4
 (HPO:0002007) Frontal bossing Very frequent [Orphanet] 366 / 7739
5
 (HPO:0001252) Muscular hypotonia Frequent [Orphanet] 990 / 7739
6
 (HPO:0000238) Hydrocephalus Occasional [Orphanet] Occasional [HPO:probinson] 278 / 7739
7
 (HPO:0000405) Conductive hearing impairment Frequent [Orphanet] 164 / 7739
8
 (HPO:0000956) Acanthosis nigricans Occasional [Orphanet] 54 / 7739
9
 (HPO:0009811) Abnormality of the elbow Frequent [Orphanet] 30 / 7739
10
 (HPO:0001695) Cardiac arrest Occasional [Orphanet] 87 / 7739
11
 (HPO:0003042) Elbow dislocation Occasional [Orphanet] 89 / 7739
12
 (HPO:0000774) Narrow chest Frequent [Orphanet] 167 / 7739
13
 (HPO:0005280) Depressed nasal bridge Very frequent [Orphanet] 381 / 7739
14
 (HPO:0000256) Macrocephaly Very frequent [Orphanet] 298 / 7739
15
 (HPO:0001355) Megalencephaly 39 / 7739
16
 (HPO:0002652) Skeletal dysplasia Very frequent [Orphanet] 113 / 7739
17
 (HPO:0002970) Genu varum Very frequent [Orphanet] 60 / 7739
18
 (HPO:0011800) Midface retrusion Frequent [Orphanet] 221 / 7739
19
 (HPO:0000389) Chronic otitis media Very frequent [Orphanet] 64 / 7739
20
 (HPO:0002808) Kyphosis Frequent [Orphanet] 289 / 7739
21
 (HPO:0000463) Anteverted nares Very frequent [Orphanet] 305 / 7739
22
 (HPO:0100818) Long thorax Frequent [Orphanet] 10 / 7739
23
 (HPO:0000772) Abnormality of the ribs Very frequent [Orphanet] 146 / 7739
24
 (HPO:0002104) Apnea Frequent [Orphanet] 106 / 7739
25
 (HPO:0003312) Abnormal form of the vertebral bodies Frequent [Orphanet] 172 / 7739
26
 (HPO:0006487) Bowing of the long bones Frequent [Orphanet] 95 / 7739
27
 (HPO:0002938) Lumbar hyperlordosis 73 / 7739
28
 (HPO:0003307) Hyperlordosis Very frequent [Orphanet] 122 / 7739
29
 (HPO:0001511) Intrauterine growth retardation Frequent [Orphanet] 358 / 7739
30
 (HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
31
 (HPO:0000944) Abnormality of the metaphyses Very frequent [Orphanet] 141 / 7739
32
 (HPO:0004279) Short palm Very frequent [Orphanet] 323 / 7739
33
 (HPO:0001382) Joint hypermobility Frequent [Orphanet] 231 / 7739
34
 (HPO:0002119) Ventriculomegaly Frequent [Orphanet] 253 / 7739
35
 (HPO:0000164) Abnormality of the teeth Frequent [Orphanet] 291 / 7739
36
 (HPO:0000403) Recurrent otitis media 61 / 7739
37
 (HPO:0001270) Motor delay 322 / 7739
38
 (HPO:0001377) Limited elbow extension 38 / 7739
39
 (HPO:0002167) Neurological speech impairment Occasional [Orphanet] 308 / 7739
40
 (HPO:0002512) Brain stem compression 2 / 7739
41
 (HPO:0002677) Small foramen magnum 4 / 7739
42
 (HPO:0002761) Generalized joint laxity 8 / 7739
43
 (HPO:0002781) Upper airway obstruction 7 / 7739
44
 (HPO:0003015) Flared metaphysis 44 / 7739
45
 (HPO:0003093) Limited hip extension 4 / 7739
46
 (HPO:0004060) Trident hand 13 / 7739
47
 (HPO:0005733) Spinal stenosis with reduced interpedicular distance 2 / 7739
48
 (HPO:0008414) Lumbar kyphosis in infancy 1 / 7739
49
 (HPO:0008905) Rhizomelia Very frequent [Orphanet] 85 / 7739
50
 (HPO:0008921) Neonatal short-limb short stature 12 / 7739
51
 (HPO:0008947) Infantile muscular hypotonia 482 / 7739
52
 (HPO:0100864) Short femoral neck 36 / 7739
53
 (OMIM) Mean male adult height, 131 cm 1 / 7739
54
 (OMIM) Mean female height, 124 cm 1 / 7739
55
 (OMIM) Recurrent otitis media in infancy and childhood 1 / 7739
56
 (OMIM) Jugular bulb dehiscence (in some patients) 1 / 7739
57
 (OMIM) Exaggerated lumbar lordosis during childhood and adulthood 1 / 7739
58
 (OMIM) Congenital spinal stenosis due to short pedicles, especially lumbar 1 / 7739
59
 (OMIM) Progressive interpediculate narrowing in lumbar spine 1 / 7739
60
 (OMIM) Dysplastic ilium 1 / 7739
61
 (OMIM) Narrow sacroiliac groove 1 / 7739
62
 (OMIM) Flat rooted acetabulae 1 / 7739
63
 (OMIM) Rhizomelic shortening 12 / 7739
64
 (OMIM) Limited elbow and hip extension 2 / 7739
65
 (MedDRA:10072883) Brachydactyly 153 / 7739
66
 (OMIM) Hydrocephalus, occasional 1 / 7739
67
 (OMIM) Hypotonia in infancy and early childhood 1 / 7739
68
 (HPO:0001522) Death in infancy Occasional [Orphanet] 275 / 7739
69
 (HPO:0011867) Abnormality of the wing of the ilium Frequent [Orphanet] 123 / 7739
70
 (HPO:0001357) Plagiocephaly Frequent [Orphanet] 106 / 7739
71
 (HPO:0000940) Abnormal diaphysis morphology Frequent [Orphanet] 41 / 7739
72
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
73
 (HPO:0000272) Malar flattening 277 / 7739
74
 (HPO:0001156) Brachydactyly syndrome 180 / 7739