1
|
(HPO:0000303)
|
Mandibular prognathia |
|
|
|
|
179 / 7739
|
2
|
(HPO:0000316)
|
Hypertelorism |
|
|
|
|
644 / 7739
|
3
|
(HPO:0000520)
|
Proptosis |
|
|
|
|
192 / 7739
|
4
|
(HPO:0000565)
|
Esotropia |
|
|
|
|
58 / 7739
|
5
|
(HPO:0000572)
|
Visual loss |
|
|
|
|
272 / 7739
|
6
|
(HPO:0000618)
|
Blindness |
|
|
|
|
124 / 7739
|
7
|
(HPO:0000639)
|
Nystagmus |
|
|
|
|
555 / 7739
|
8
|
(HPO:0000648)
|
Optic atrophy |
|
|
|
|
238 / 7739
|
9
|
(HPO:0000689)
|
Dental malocclusion |
|
|
|
|
114 / 7739
|
10
|
(HPO:0001133)
|
Constriction of peripheral visual field |
|
|
|
|
33 / 7739
|
11
|
(HPO:0001233)
|
2-3 finger syndactyly |
|
|
|
|
7 / 7739
|
12
|
(HPO:0001474)
|
Sclerotic scapulae |
|
|
|
|
3 / 7739
|
13
|
(HPO:0001548)
|
Overgrowth |
|
|
|
|
27 / 7739
|
14
|
(HPO:0002164)
|
Nail dysplasia |
|
|
|
|
82 / 7739
|
15
|
(HPO:0002315)
|
Headache |
|
|
|
|
175 / 7739
|
16
|
(HPO:0002516)
|
Increased intracranial pressure |
|
|
|
|
47 / 7739
|
17
|
(HPO:0004576)
|
Sclerotic vertebral endplates |
|
|
|
|
3 / 7739
|
18
|
(HPO:0006415)
|
Cortically dense long tubular bones |
|
|
|
|
2 / 7739
|
19
|
(HPO:0007285)
|
Facial palsy secondary to cranial hyperostosis |
|
|
|
|
2 / 7739
|
20
|
(HPO:0011800)
|
Midface retrusion |
|
|
|
|
221 / 7739
|
21
|
(HPO:0100543)
|
Cognitive impairment |
|
|
|
|
230 / 7739
|
22
|
(OMIM)
|
Gigantism, mild-moderate |
|
|
|
|
1 / 7739
|
23
|
(OMIM)
|
Frontal prominence |
|
|
|
|
2 / 7739
|
24
|
(OMIM)
|
Deafness, secondary to cranial hyperostosis |
|
|
|
|
1 / 7739
|
25
|
(OMIM)
|
Broad, flat nasal root |
|
|
|
|
4 / 7739
|
26
|
(OMIM)
|
Broad, dense clavicles |
|
|
|
|
1 / 7739
|
27
|
(OMIM)
|
Broad, dense ribs |
|
|
|
|
1 / 7739
|
28
|
(OMIM)
|
Prominent, asymmetric mandible |
|
|
|
|
1 / 7739
|
29
|
(HPO:0000250)
|
Dense calvaria |
|
|
|
|
6 / 7739
|
30
|
(HPO:0002684)
|
Thickened calvaria |
|
|
|
|
32 / 7739
|
31
|
(HPO:0004437)
|
Cranial hyperostosis |
|
|
|
|
55 / 7739
|
32
|
(HPO:0004490)
|
Calvarial hyperostosis |
|
|
|
|
11 / 7739
|
33
|
(OMIM)
|
Occlusion of cranial foramina |
|
|
|
|
1 / 7739
|
34
|
(OMIM)
|
Sclerotic pedicles |
|
|
|
|
1 / 7739
|
35
|
(OMIM)
|
Sclerotic pelvis |
|
|
|
|
1 / 7739
|
36
|
(OMIM)
|
Lack of diaphyseal modeling |
|
|
|
|
1 / 7739
|
37
|
(OMIM)
|
Deviation of terminal phalanges |
|
|
|
|
1 / 7739
|