|
1
|
(HPO:0010751)
|
Chin dimple |
Occasional [Orphanet]
|
|
|
|
16 / 7739
|
|
2
|
(HPO:0002007)
|
Frontal bossing |
Frequent [Orphanet]
|
|
|
|
366 / 7739
|
|
3
|
(HPO:0011220)
|
Prominent forehead |
|
|
|
|
137 / 7739
|
|
4
|
(HPO:0001252)
|
Muscular hypotonia |
Frequent [Orphanet]
|
|
|
|
990 / 7739
|
|
5
|
(HPO:0000356)
|
Abnormality of the outer ear |
Frequent [Orphanet]
|
|
|
|
85 / 7739
|
|
6
|
(HPO:0000506)
|
Telecanthus |
Occasional [Orphanet]
|
|
|
|
156 / 7739
|
|
7
|
(HPO:0001363)
|
Craniosynostosis |
Very frequent [Orphanet]
|
|
|
|
132 / 7739
|
|
8
|
(HPO:0000581)
|
Blepharophimosis |
Occasional [Orphanet]
|
|
|
|
197 / 7739
|
|
9
|
(HPO:0001276)
|
Hypertonia |
Occasional [Orphanet]
|
|
|
|
317 / 7739
|
|
10
|
(HPO:0000238)
|
Hydrocephalus |
Occasional [Orphanet]
|
|
|
|
278 / 7739
|
|
11
|
(HPO:0011331)
|
Hemifacial atrophy |
Occasional [Orphanet]
|
|
|
|
79 / 7739
|
|
12
|
(HPO:0000411)
|
Protruding ear |
Occasional [Orphanet]
|
|
|
|
140 / 7739
|
|
13
|
(HPO:0002714)
|
Downturned corners of mouth |
Occasional [Orphanet]
|
|
|
|
98 / 7739
|
|
14
|
(HPO:0000248)
|
Brachycephaly |
Very frequent [Orphanet]
|
|
|
|
222 / 7739
|
|
15
|
(HPO:0005469)
|
Flat occiput |
|
|
|
|
30 / 7739
|
|
16
|
(HPO:0001328)
|
Specific learning disability |
|
|
|
|
114 / 7739
|
|
17
|
(HPO:0100830)
|
Round ear |
Occasional [Orphanet]
|
|
|
|
7 / 7739
|
|
18
|
(HPO:0001357)
|
Plagiocephaly |
Very frequent [Orphanet]
|
|
|
|
106 / 7739
|
|
19
|
(HPO:0000256)
|
Macrocephaly |
rare [HPO:skoehler]
|
|
|
|
298 / 7739
|
|
20
|
(HPO:0001355)
|
Megalencephaly |
|
|
|
|
39 / 7739
|
|
21
|
(HPO:0004482)
|
Relative macrocephaly |
|
|
|
|
44 / 7739
|
|
22
|
(HPO:0000272)
|
Malar flattening |
|
|
|
|
277 / 7739
|
|
23
|
(HPO:0003196)
|
Short nose |
rare [HPO:skoehler]
|
|
|
|
264 / 7739
|
|
24
|
(HPO:0004443)
|
Lambdoidal craniosynostosis |
|
|
|
|
15 / 7739
|
|
25
|
(HPO:0011325)
|
Pansynostosis |
rare [HPO:skoehler]
|
|
|
|
1 / 7739
|
|
26
|
(HPO:0011327)
|
Posterior plagiocephaly |
|
|
|
|
1 / 7739
|
|
27
|
(HPO:0011800)
|
Midface retrusion |
|
|
|
|
221 / 7739
|
|
28
|
(HPO:0000316)
|
Hypertelorism |
|
|
|
|
644 / 7739
|
|
29
|
(OMIM)
|
Exorbitism |
|
|
|
|
2 / 7739
|
|
30
|
(OMIM)
|
Vertical displacement of nose (in some patients) |
|
|
|
|
1 / 7739
|
|
31
|
(OMIM)
|
Dental malocclusion, class I (rare) |
|
|
|
|
1 / 7739
|
|
32
|
(OMIM)
|
Sagittal synostosis |
|
|
|
|
2 / 7739
|
|
33
|
(OMIM)
|
Lambdoid synostosis (in some patients) |
|
|
|
|
1 / 7739
|
|
34
|
(OMIM)
|
Coronal synostosis (1 patient) |
|
|
|
|
2 / 7739
|
|
35
|
(OMIM)
|
Mild shortening of digits (in some patients) |
|
|
|
|
1 / 7739
|
|
36
|
(OMIM)
|
Increased intracranial pressure preoperatively (in some patients) |
|
|
|
|
1 / 7739
|
|
37
|
(OMIM)
|
Chiari type I malformation |
|
|
|
|
2 / 7739
|
|
38
|
(OMIM)
|
Poor concentration |
|
|
|
|
5 / 7739
|
|
39
|
(OMIM)
|
Language acquisition difficulties (in some patients) |
|
|
|
|
1 / 7739
|
|
40
|
(HPO:0012758)
|
Neurodevelopmental delay |
Occasional [Orphanet]
|
|
|
|
949 / 7739
|
|
41
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|