|
1
|
(HPO:0004437)
|
Cranial hyperostosis |
Very frequent [Orphanet]
|
|
|
|
55 / 7739
|
|
2
|
(HPO:0011001)
|
Increased bone mineral density |
Very frequent [Orphanet]
|
|
|
|
78 / 7739
|
|
3
|
(HPO:0100789)
|
Torus palatinus |
Very frequent [Orphanet]
|
|
|
|
6 / 7739
|
|
4
|
(HPO:0003103)
|
Abnormal cortical bone morphology |
Very frequent [Orphanet]
|
|
|
|
38 / 7739
|
|
5
|
(HPO:0010628)
|
Facial palsy |
Occasional [Orphanet]
|
|
|
|
146 / 7739
|
|
6
|
(HPO:0000303)
|
Mandibular prognathia |
Occasional [Orphanet]
|
|
|
|
179 / 7739
|
|
7
|
(HPO:0000772)
|
Abnormality of the ribs |
Very frequent [Orphanet]
|
|
|
|
146 / 7739
|
|
8
|
(HPO:0003312)
|
Abnormal form of the vertebral bodies |
Frequent [Orphanet]
|
|
|
|
172 / 7739
|
|
9
|
(HPO:0006660)
|
Aplastic clavicles |
Very frequent [Orphanet]
|
|
|
|
70 / 7739
|
|
10
|
(HPO:0000407)
|
Sensorineural hearing impairment |
Occasional [Orphanet]
|
|
|
|
524 / 7739
|
|
11
|
(HPO:0000639)
|
Nystagmus |
Occasional [Orphanet]
|
|
|
|
555 / 7739
|
|
12
|
(HPO:0000689)
|
Dental malocclusion |
|
|
|
|
114 / 7739
|
|
13
|
(HPO:0000935)
|
Thickened cortex of long bones |
|
|
|
|
8 / 7739
|
|
14
|
(HPO:0001507)
|
Growth abnormality |
|
|
|
|
36 / 7739
|
|
15
|
(HPO:0002644)
|
Abnormality of pelvic girdle bone morphology |
|
|
|
|
31 / 7739
|
|
16
|
(HPO:0004425)
|
Flat forehead |
|
|
|
|
6 / 7739
|
|
17
|
(HPO:0006174)
|
Metacarpal diaphyseal endosteal sclerosis |
|
|
|
|
1 / 7739
|
|
18
|
(HPO:0008114)
|
Metatarsal diaphyseal endosteal sclerosis |
|
|
|
|
1 / 7739
|
|
19
|
(HPO:0100861)
|
Vertebral body sclerosis |
|
|
|
|
1 / 7739
|
|
20
|
(HPO:0100923)
|
Clavicular sclerosis |
|
|
|
|
3 / 7739
|
|
21
|
(OMIM)
|
Normal height |
|
|
|
|
8 / 7739
|
|
22
|
(MedDRA:10044044)
|
Tooth loss |
|
|
|
|
6 / 7739
|
|
23
|
(OMIM)
|
Mild rib sclerosis |
|
|
|
|
1 / 7739
|
|
24
|
(OMIM)
|
Mild clavicular sclerosis |
|
|
|
|
1 / 7739
|
|
25
|
(OMIM)
|
Resistance of bone to fractures |
|
|
|
|
1 / 7739
|
|
26
|
(OMIM)
|
Elongated mandible |
|
|
|
|
1 / 7739
|
|
27
|
(OMIM)
|
Increased calvarial density |
|
|
|
|
1 / 7739
|
|
28
|
(OMIM)
|
Increased mandibular bone density |
|
|
|
|
1 / 7739
|
|
29
|
(OMIM)
|
Endosteal sclerosis of cranium |
|
|
|
|
1 / 7739
|
|
30
|
(OMIM)
|
Loss of diploe |
|
|
|
|
1 / 7739
|
|
31
|
(OMIM)
|
Increased gonial angle (AD osteosclerosis) |
|
|
|
|
1 / 7739
|
|
32
|
(OMIM)
|
Decreased gonial angle (endosteal hyperostosis) |
|
|
|
|
1 / 7739
|
|
33
|
(OMIM)
|
Mild vertebral body sclerosis |
|
|
|
|
1 / 7739
|
|
34
|
(OMIM)
|
Mild sclerosis |
|
|
|
|
1 / 7739
|
|
35
|
(HPO:0000940)
|
Abnormal diaphysis morphology |
Very frequent [Orphanet]
|
|
|
|
41 / 7739
|
|
36
|
(HPO:0000277)
|
Abnormality of the mandible |
Frequent [Orphanet]
|
|
|
|
394 / 7739
|
|
37
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|