|
1
|
(HPO:0000256)
|
Macrocephaly |
|
|
|
|
298 / 7739
|
|
2
|
(HPO:0000316)
|
Hypertelorism |
|
|
|
|
644 / 7739
|
|
3
|
(HPO:0000431)
|
Wide nasal bridge |
|
|
|
|
290 / 7739
|
|
4
|
(HPO:0000452)
|
Choanal stenosis |
|
|
|
|
23 / 7739
|
|
5
|
(HPO:0000529)
|
Progressive visual loss |
|
|
|
|
54 / 7739
|
|
6
|
(HPO:0000648)
|
Optic atrophy |
|
|
|
|
238 / 7739
|
|
7
|
(HPO:0000900)
|
Thickened ribs |
|
|
|
|
9 / 7739
|
|
8
|
(HPO:0001085)
|
Papilledema |
|
|
|
|
31 / 7739
|
|
9
|
(HPO:0001349)
|
Facial diplegia |
|
|
|
|
16 / 7739
|
|
10
|
(HPO:0002315)
|
Headache |
|
|
|
|
175 / 7739
|
|
11
|
(HPO:0002516)
|
Increased intracranial pressure |
|
|
|
|
47 / 7739
|
|
12
|
(HPO:0003034)
|
Diaphyseal sclerosis |
|
|
|
|
10 / 7739
|
|
13
|
(HPO:0003155)
|
Elevated alkaline phosphatase |
|
|
|
|
52 / 7739
|
|
14
|
(HPO:0003165)
|
Elevated circulating parathyroid hormone level |
|
|
|
|
17 / 7739
|
|
15
|
(HPO:0004322)
|
Short stature |
|
|
|
|
1232 / 7739
|
|
16
|
(HPO:0011120)
|
Concave nasal ridge |
|
|
|
|
9 / 7739
|
|
17
|
(OMIM)
|
Prominent mandible |
|
|
|
|
5 / 7739
|
|
18
|
(OMIM)
|
Leonine facies |
|
|
|
|
1 / 7739
|
|
19
|
(HPO:0001730)
|
Progressive hearing impairment |
|
|
|
|
29 / 7739
|
|
20
|
(OMIM)
|
Difficulty breathing through the nostrils |
|
|
|
|
1 / 7739
|
|
21
|
(OMIM)
|
Respiratory obstruction |
|
|
|
|
1 / 7739
|
|
22
|
(OMIM)
|
Sclerotic ribs |
|
|
|
|
2 / 7739
|
|
23
|
(HPO:0011001)
|
Increased bone mineral density |
|
|
|
|
78 / 7739
|
|
24
|
(HPO:0100774)
|
Hyperostosis |
|
|
|
|
17 / 7739
|
|
25
|
(OMIM)
|
Facial bone hyperplasia |
|
|
|
|
1 / 7739
|
|
26
|
(OMIM)
|
Obliteration of the sinuses, middle ear cavities, internal acoustic canals, and optic nerve canals |
|
|
|
|
1 / 7739
|
|
27
|
(OMIM)
|
Cortical sclerosis of facial bones |
|
|
|
|
1 / 7739
|
|
28
|
(OMIM)
|
Cement lines |
|
|
|
|
1 / 7739
|
|
29
|
(OMIM)
|
Undertubulation of the long bones of the legs |
|
|
|
|
1 / 7739
|