|
1
|
(HPO:0000218)
|
High palate |
|
|
|
|
356 / 7739
|
|
2
|
(HPO:0000252)
|
Microcephaly |
|
|
|
|
832 / 7739
|
|
3
|
(HPO:0000272)
|
Malar flattening |
|
|
|
|
277 / 7739
|
|
4
|
(HPO:0000275)
|
Narrow face |
|
|
|
|
76 / 7739
|
|
5
|
(HPO:0000276)
|
Long face |
|
|
|
|
109 / 7739
|
|
6
|
(HPO:0000278)
|
Retrognathia |
|
|
|
|
100 / 7739
|
|
7
|
(HPO:0000286)
|
Epicanthus |
|
|
|
|
371 / 7739
|
|
8
|
(HPO:0000347)
|
Micrognathia |
|
|
|
|
426 / 7739
|
|
9
|
(HPO:0000358)
|
Posteriorly rotated ears |
|
|
|
|
163 / 7739
|
|
10
|
(HPO:0000426)
|
Prominent nasal bridge |
|
|
|
|
121 / 7739
|
|
11
|
(HPO:0000486)
|
Strabismus |
|
|
|
|
576 / 7739
|
|
12
|
(HPO:0000582)
|
Upslanted palpebral fissure |
|
|
|
|
185 / 7739
|
|
13
|
(HPO:0000678)
|
Dental crowding |
|
|
|
|
65 / 7739
|
|
14
|
(HPO:0000718)
|
Aggressive behavior |
|
|
|
|
109 / 7739
|
|
15
|
(HPO:0000737)
|
Irritability |
|
|
|
|
93 / 7739
|
|
16
|
(HPO:0000750)
|
Delayed speech and language development |
|
|
|
|
197 / 7739
|
|
17
|
(HPO:0000752)
|
Hyperactivity |
|
|
|
|
140 / 7739
|
|
18
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
19
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
|
20
|
(HPO:0001250)
|
Seizures |
|
|
|
|
1245 / 7739
|
|
21
|
(HPO:0001290)
|
Generalized hypotonia |
|
|
|
|
51 / 7739
|
|
22
|
(HPO:0001302)
|
Pachygyria |
|
|
|
|
60 / 7739
|
|
23
|
(HPO:0001382)
|
Joint hypermobility |
|
|
|
|
231 / 7739
|
|
24
|
(HPO:0001533)
|
Slender build |
|
|
|
|
11 / 7739
|
|
25
|
(HPO:0002126)
|
Polymicrogyria |
|
|
|
|
64 / 7739
|
|
26
|
(HPO:0002360)
|
Sleep disturbance |
|
|
|
|
113 / 7739
|
|
27
|
(HPO:0002650)
|
Scoliosis |
|
|
|
|
705 / 7739
|
|
28
|
(HPO:0002808)
|
Kyphosis |
|
|
|
|
289 / 7739
|
|
29
|
(HPO:0003103)
|
Abnormal cortical bone morphology |
|
|
|
|
38 / 7739
|
|
30
|
(HPO:0003307)
|
Hyperlordosis |
|
|
|
|
122 / 7739
|
|
31
|
(HPO:0007874)
|
Almond-shaped palpebral fissure |
|
|
|
|
4 / 7739
|
|
32
|
(HPO:0011297)
|
Abnormality of digit |
|
|
|
|
4 / 7739
|
|
33
|
(OMIM)
|
Thin body habitus |
|
|
|
|
5 / 7739
|
|
34
|
(OMIM)
|
Asthenic build |
|
|
|
|
1 / 7739
|
|
35
|
(OMIM)
|
Long narrow face |
|
|
|
|
11 / 7739
|
|
36
|
(OMIM)
|
Almond-shaped eyes |
|
|
|
|
12 / 7739
|
|
37
|
(HPO:0001519)
|
Disproportionate tall stature |
|
|
|
|
39 / 7739
|
|
38
|
(OMIM)
|
Long digits |
|
|
|
|
3 / 7739
|
|
39
|
(HPO:0001252)
|
Muscular hypotonia |
|
|
|
|
990 / 7739
|
|
40
|
(HPO:0001324)
|
Muscle weakness |
|
|
|
|
859 / 7739
|
|
41
|
(HPO:0008947)
|
Infantile muscular hypotonia |
|
|
|
|
482 / 7739
|
|
42
|
(HPO:0010547)
|
Muscle flaccidity |
|
|
|
|
466 / 7739
|
|
43
|
(OMIM)
|
Seizures, infantile onset |
|
|
|
|
4 / 7739
|
|
44
|
(HPO:0100785)
|
Insomnia |
|
|
|
|
18 / 7739
|
|
45
|
(OMIM)
|
Cortical malformation |
|
|
|
|
2 / 7739
|
|
46
|
(OMIM)
|
Normal serum cholesterol |
|
|
|
|
1 / 7739
|
|
47
|
(HPO:0001419)
|
X-linked recessive inheritance |
|
|
|
|
189 / 7739
|