|
1
|
(HPO:0000572)
|
Visual loss |
Occasional [Orphanet]
|
|
|
|
272 / 7739
|
|
2
|
(HPO:0000677)
|
Oligodontia |
|
|
|
|
41 / 7739
|
|
3
|
(HPO:0002104)
|
Apnea |
Occasional [Orphanet]
|
|
|
|
106 / 7739
|
|
4
|
(HPO:0002015)
|
Dysphagia |
Occasional [Orphanet]
|
|
|
|
301 / 7739
|
|
5
|
(HPO:0010620)
|
Malar prominence |
Very frequent [Orphanet]
|
|
|
|
7 / 7739
|
|
6
|
(HPO:0000520)
|
Proptosis |
Occasional [Orphanet]
|
|
|
|
192 / 7739
|
|
7
|
(HPO:0006482)
|
Abnormality of dental morphology |
Frequent [Orphanet]
|
|
|
|
81 / 7739
|
|
8
|
(HPO:0001608)
|
Abnormality of the voice |
Occasional [Orphanet]
|
|
|
|
126 / 7739
|
|
9
|
(HPO:0000277)
|
Abnormality of the mandible |
Very frequent [Orphanet]
|
|
|
|
394 / 7739
|
|
10
|
(HPO:0000311)
|
Round face |
|
|
|
|
104 / 7739
|
|
11
|
(HPO:0000505)
|
Visual impairment |
|
|
|
|
297 / 7739
|
|
12
|
(HPO:0001065)
|
Striae distensae |
|
|
|
|
26 / 7739
|
|
13
|
(HPO:0001133)
|
Constriction of peripheral visual field |
|
|
|
|
33 / 7739
|
|
14
|
(HPO:0001138)
|
Optic neuropathy |
|
|
|
|
12 / 7739
|
|
15
|
(HPO:0009804)
|
Reduced number of teeth |
Frequent [Orphanet]
|
|
|
|
137 / 7739
|
|
16
|
(HPO:0010622)
|
Neoplasm of the skeletal system |
Very frequent [Orphanet]
|
|
|
|
30 / 7739
|
|
17
|
(HPO:0200056)
|
Macular scarring |
|
|
|
|
2 / 7739
|
|
18
|
(HPO:0200057)
|
Marcus Gunn pupil |
|
|
|
|
3 / 7739
|
|
19
|
(OMIM)
|
Round face due to facial swelling |
|
|
|
|
1 / 7739
|
|
20
|
(OMIM)
|
Broad cheeks due to facial swelling |
|
|
|
|
1 / 7739
|
|
21
|
(OMIM)
|
Symmetric, hard, painless, swelling of the jaw region |
|
|
|
|
1 / 7739
|
|
22
|
(OMIM)
|
Maxillary enlargement |
|
|
|
|
1 / 7739
|
|
23
|
(OMIM)
|
Mandibular enlargement |
|
|
|
|
4 / 7739
|
|
24
|
(OMIM)
|
Enlarged submandibular lymph nodes |
|
|
|
|
1 / 7739
|
|
25
|
(OMIM)
|
Upward displacement of the globes |
|
|
|
|
1 / 7739
|
|
26
|
(OMIM)
|
Lower eyelid retraction |
|
|
|
|
1 / 7739
|
|
27
|
(OMIM)
|
Orbital mass |
|
|
|
|
1 / 7739
|
|
28
|
(OMIM)
|
Macular striae |
|
|
|
|
1 / 7739
|
|
29
|
(OMIM)
|
Agenesis of teeth |
|
|
|
|
1 / 7739
|
|
30
|
(OMIM)
|
Displaced teeth |
|
|
|
|
1 / 7739
|
|
31
|
(OMIM)
|
Loss of bone and replacement by fibrous tissue restricted to jaw |
|
|
|
|
1 / 7739
|
|
32
|
(OMIM)
|
Multilocular radiolucencies in the jaw bones |
|
|
|
|
1 / 7739
|
|
33
|
(OMIM)
|
Histology shows multiple osteoclast-like cells in a fibrous and cellular stroma |
|
|
|
|
1 / 7739
|
|
34
|
(HPO:0000164)
|
Abnormality of the teeth |
Frequent [Orphanet]
|
|
|
|
291 / 7739
|
|
35
|
(HPO:0012795)
|
Abnormality of the optic disc |
Occasional [Orphanet]
|
|
|
|
187 / 7739
|
|
36
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
37
|
(HPO:0007663)
|
Reduced visual acuity |
|
|
|
|
100 / 7739
|
|
38
|
(HPO:0011463)
|
Childhood onset |
|
|
|
|
65 / 7739
|