|
1
|
(HPO:0000218)
|
High palate |
|
|
|
|
356 / 7739
|
|
2
|
(HPO:0002705)
|
High, narrow palate |
|
|
|
|
308 / 7739
|
|
3
|
(HPO:0000248)
|
Brachycephaly |
|
|
|
|
222 / 7739
|
|
4
|
(HPO:0000256)
|
Macrocephaly |
|
|
|
|
298 / 7739
|
|
5
|
(HPO:0001355)
|
Megalencephaly |
|
|
|
|
39 / 7739
|
|
6
|
(HPO:0004482)
|
Relative macrocephaly |
|
|
|
|
44 / 7739
|
|
7
|
(HPO:0000262)
|
Turricephaly |
|
|
|
|
38 / 7739
|
|
8
|
(HPO:0000286)
|
Epicanthus |
|
|
|
|
371 / 7739
|
|
9
|
(HPO:0000316)
|
Hypertelorism |
|
|
|
|
644 / 7739
|
|
10
|
(HPO:0000322)
|
Short philtrum |
|
|
|
|
130 / 7739
|
|
11
|
(HPO:0000337)
|
Broad forehead |
|
|
|
|
116 / 7739
|
|
12
|
(HPO:0000341)
|
Narrow forehead |
|
|
|
|
96 / 7739
|
|
13
|
(HPO:0000368)
|
Low-set, posteriorly rotated ears |
|
|
|
|
38 / 7739
|
|
14
|
(HPO:0000369)
|
Low-set ears |
|
|
|
|
372 / 7739
|
|
15
|
(HPO:0000414)
|
Bulbous nose |
|
|
|
|
63 / 7739
|
|
16
|
(HPO:0000431)
|
Wide nasal bridge |
|
|
|
|
290 / 7739
|
|
17
|
(HPO:0000483)
|
Astigmatism |
|
|
|
|
67 / 7739
|
|
18
|
(HPO:0000520)
|
Proptosis |
|
|
|
|
192 / 7739
|
|
19
|
(HPO:0000577)
|
Exotropia |
|
|
|
|
43 / 7739
|
|
20
|
(HPO:0000581)
|
Blepharophimosis |
|
|
|
|
197 / 7739
|
|
21
|
(HPO:0000582)
|
Upslanted palpebral fissure |
|
|
|
|
185 / 7739
|
|
22
|
(HPO:0000601)
|
Hypotelorism |
|
|
|
|
83 / 7739
|
|
23
|
(HPO:0000733)
|
Stereotypy |
|
|
|
|
58 / 7739
|
|
24
|
(HPO:0001169)
|
Broad palm |
|
|
|
|
43 / 7739
|
|
25
|
(HPO:0001176)
|
Large hands |
|
|
|
|
43 / 7739
|
|
26
|
(HPO:0001230)
|
Broad metacarpals |
|
|
|
|
17 / 7739
|
|
27
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
28
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
|
29
|
(HPO:0001250)
|
Seizures |
|
|
|
|
1245 / 7739
|
|
30
|
(HPO:0001252)
|
Muscular hypotonia |
|
|
|
|
990 / 7739
|
|
31
|
(HPO:0001324)
|
Muscle weakness |
|
|
|
|
859 / 7739
|
|
32
|
(HPO:0001274)
|
Agenesis of corpus callosum |
|
|
|
|
142 / 7739
|
|
33
|
(HPO:0001363)
|
Craniosynostosis |
|
|
|
|
132 / 7739
|
|
34
|
(HPO:0011324)
|
Multiple suture craniosynostosis |
|
|
|
|
22 / 7739
|
|
35
|
(HPO:0001518)
|
Small for gestational age |
|
|
|
|
107 / 7739
|
|
36
|
(HPO:0001833)
|
Long foot |
|
|
|
|
33 / 7739
|
|
37
|
(HPO:0002162)
|
Low posterior hairline |
|
|
|
|
88 / 7739
|
|
38
|
(HPO:0002360)
|
Sleep disturbance |
|
|
|
|
113 / 7739
|
|
39
|
(HPO:0002650)
|
Scoliosis |
|
|
|
|
705 / 7739
|
|
40
|
(HPO:0008070)
|
Sparse hair |
|
|
|
|
94 / 7739
|
|
41
|
(OMIM)
|
Overweight as adult (2 patients) |
|
|
|
|
1 / 7739
|
|
42
|
(HPO:0000929)
|
Abnormality of the skull |
|
|
|
|
53 / 7739
|
|
43
|
(HPO:0002007)
|
Frontal bossing |
|
|
|
|
366 / 7739
|
|
44
|
(MedDRA:10019243)
|
Hearing disorders |
|
|
|
|
1 / 7739
|
|
45
|
(OMIM)
|
Small pits anterior to the helix (1 patient) |
|
|
|
|
1 / 7739
|
|
46
|
(HPO:0000486)
|
Strabismus |
|
|
|
|
576 / 7739
|
|
47
|
(HPO:0004440)
|
Coronal craniosynostosis |
|
|
|
|
38 / 7739
|
|
48
|
(HPO:0001166)
|
Arachnodactyly |
|
|
|
|
62 / 7739
|
|
49
|
(HPO:0100807)
|
Long fingers |
|
|
|
|
23 / 7739
|
|
50
|
(OMIM)
|
Large feet |
|
|
|
|
12 / 7739
|
|
51
|
(HPO:0008947)
|
Infantile muscular hypotonia |
|
|
|
|
482 / 7739
|
|
52
|
(HPO:0010547)
|
Muscle flaccidity |
|
|
|
|
466 / 7739
|
|
53
|
(HPO:0001327)
|
Photomyoclonic seizures |
|
|
|
|
125 / 7739
|
|
54
|
(HPO:0000722)
|
Obsessive-compulsive behavior |
rare [HPO:skoehler]
|
|
|
|
35 / 7739
|
|
55
|
(OMIM)
|
Microduplication of chromosome 5p13 |
|
|
|
|
1 / 7739
|
|
56
|
(HPO:0003745)
|
Sporadic |
|
|
|
|
131 / 7739
|
|
57
|
(HPO:0012745)
|
Short palpebral fissure |
rare [HPO:skoehler]
|
|
|
|
47 / 7739
|