Symptom Information: Sort according to HPO 

1
 (HPO:0002007) Frontal bossing Very frequent [Orphanet] 366 / 7739
2
 (HPO:0000262) Turricephaly Frequent [Orphanet] 38 / 7739
3
 (HPO:0001252) Muscular hypotonia Frequent [Orphanet] 990 / 7739
4
 (HPO:0010299) Abnormality of dentin Frequent [Orphanet] 9 / 7739
5
 (HPO:0000592) Blue sclerae Very frequent [Orphanet] 85 / 7739
6
 (HPO:0000494) Downslanted palpebral fissures Occasional [Orphanet] 328 / 7739
7
 (HPO:0000520) Proptosis Very frequent [Orphanet] 192 / 7739
8
 (HPO:0001608) Abnormality of the voice Very frequent [Orphanet] 126 / 7739
9
 (HPO:0002650) Scoliosis Frequent [Orphanet] 705 / 7739
10
 (HPO:0001334) Communicating hydrocephalus Frequent [Orphanet] 32 / 7739
11
 (HPO:0002652) Skeletal dysplasia Very frequent [Orphanet] 113 / 7739
12
 (HPO:0000684) Delayed eruption of teeth Very frequent [Orphanet] 117 / 7739
13
 (HPO:0011800) Midface retrusion Very frequent [Orphanet] 221 / 7739
14
 (HPO:0002659) Increased susceptibility to fractures Frequent [Orphanet] 110 / 7739
15
 (HPO:0002757) Recurrent fractures 47 / 7739
16
 (HPO:0002808) Kyphosis Frequent [Orphanet] 289 / 7739
17
 (HPO:0003312) Abnormal form of the vertebral bodies Very frequent [Orphanet] 172 / 7739
18
 (HPO:0006487) Bowing of the long bones Very frequent [Orphanet] 95 / 7739
19
 (HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
20
 (HPO:0001511) Intrauterine growth retardation Frequent [Orphanet] 358 / 7739
21
 (HPO:0000944) Abnormality of the metaphyses Very frequent [Orphanet] 141 / 7739
22
 (HPO:0001382) Joint hypermobility Occasional [Orphanet] 231 / 7739
23
 (HPO:0002645) Wormian bones Frequent [Orphanet] 65 / 7739
24
 (HPO:0000238) Hydrocephalus 278 / 7739
25
 (HPO:0000586) Shallow orbits 23 / 7739
26
 (HPO:0000772) Abnormality of the ribs Very frequent [Orphanet] 146 / 7739
27
 (HPO:0004349) Reduced bone mineral density Very frequent [Orphanet] 165 / 7739
28
 (HPO:0005472) Orbital craniosynostosis 1 / 7739
29
 (MedDRA:10070918) Bone deformity 2 / 7739
30
 (OMIM) Normal intellectual development 1 / 7739
31
 (HPO:0012758) Neurodevelopmental delay Occasional [Orphanet] 949 / 7739
32
 (HPO:0000277) Abnormality of the mandible Very frequent [Orphanet] 394 / 7739
33
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
34
 (HPO:0000347) Micrognathia 426 / 7739
35
 (HPO:0000691) Microdontia 104 / 7739
36
 (HPO:0000938) Osteopenia 138 / 7739
37
 (HPO:0001620) High pitched voice 32 / 7739
38
 (HPO:0002953) Vertebral compression fractures 14 / 7739
39
 (HPO:0004440) Coronal craniosynostosis 38 / 7739