|
1
|
(HPO:0000256)
|
Macrocephaly |
Very frequent [Orphanet]
|
|
|
|
298 / 7739
|
|
2
|
(HPO:0000277)
|
Abnormality of the mandible |
Very frequent [Orphanet]
|
|
|
|
394 / 7739
|
|
3
|
(HPO:0000280)
|
Coarse facial features |
Very frequent [Orphanet]
|
|
|
|
189 / 7739
|
|
4
|
(HPO:0000405)
|
Conductive hearing impairment |
Frequent [Orphanet]
|
|
|
|
164 / 7739
|
|
5
|
(HPO:0000772)
|
Abnormality of the ribs |
Very frequent [Orphanet]
|
|
|
|
146 / 7739
|
|
6
|
(HPO:0002007)
|
Frontal bossing |
Very frequent [Orphanet]
|
|
|
|
366 / 7739
|
|
7
|
(HPO:0004322)
|
Short stature |
Very frequent [Orphanet]
|
|
|
|
1232 / 7739
|
|
8
|
(HPO:0005280)
|
Depressed nasal bridge |
Very frequent [Orphanet]
|
|
|
|
381 / 7739
|
|
9
|
(HPO:0004437)
|
Cranial hyperostosis |
Very frequent [Orphanet]
|
|
|
|
55 / 7739
|
|
10
|
(HPO:0000445)
|
Wide nose |
Very frequent [Orphanet]
|
|
|
|
190 / 7739
|
|
11
|
(HPO:0012795)
|
Abnormality of the optic disc |
Occasional [Orphanet]
|
|
|
|
187 / 7739
|
|
12
|
(HPO:0012758)
|
Neurodevelopmental delay |
Very frequent [Orphanet]
|
|
|
|
949 / 7739
|
|
13
|
(HPO:0000940)
|
Abnormal diaphysis morphology |
Very frequent [Orphanet]
|
|
|
|
41 / 7739
|
|
14
|
(HPO:0000372)
|
Abnormality of the auditory canal |
Frequent [Orphanet]
|
|
|
|
49 / 7739
|
|
15
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
16
|
(HPO:0000316)
|
Hypertelorism |
|
|
|
|
644 / 7739
|
|
17
|
(HPO:0000365)
|
Hearing impairment |
|
|
|
|
539 / 7739
|
|
18
|
(HPO:0000431)
|
Wide nasal bridge |
|
|
|
|
290 / 7739
|
|
19
|
(HPO:0000452)
|
Choanal stenosis |
|
|
|
|
23 / 7739
|
|
20
|
(HPO:0000529)
|
Progressive visual loss |
|
|
|
|
54 / 7739
|
|
21
|
(HPO:0000648)
|
Optic atrophy |
|
|
|
|
238 / 7739
|
|
22
|
(HPO:0000900)
|
Thickened ribs |
|
|
|
|
9 / 7739
|
|
23
|
(HPO:0001085)
|
Papilledema |
|
|
|
|
31 / 7739
|
|
24
|
(HPO:0001349)
|
Facial diplegia |
|
|
|
|
16 / 7739
|
|
25
|
(HPO:0002315)
|
Headache |
|
|
|
|
175 / 7739
|
|
26
|
(HPO:0002516)
|
Increased intracranial pressure |
|
|
|
|
47 / 7739
|
|
27
|
(HPO:0003034)
|
Diaphyseal sclerosis |
|
|
|
|
10 / 7739
|
|
28
|
(HPO:0003155)
|
Elevated alkaline phosphatase |
|
|
|
|
52 / 7739
|
|
29
|
(HPO:0003165)
|
Elevated circulating parathyroid hormone level |
|
|
|
|
17 / 7739
|
|
30
|
(HPO:0003593)
|
Infantile onset |
|
|
|
|
249 / 7739
|
|
31
|
(HPO:0003676)
|
Progressive disorder |
|
|
|
|
148 / 7739
|
|
32
|
(HPO:0004493)
|
Craniofacial hyperostosis |
|
|
|
|
5 / 7739
|
|
33
|
(HPO:0005464)
|
Craniofacial osteosclerosis |
|
|
|
|
3 / 7739
|
|
34
|
(HPO:0011120)
|
Concave nasal ridge |
|
|
|
|
9 / 7739
|