|
1
|
(HPO:0000253)
|
Progressive microcephaly |
|
|
|
|
37 / 7739
|
|
2
|
(HPO:0000337)
|
Broad forehead |
|
|
|
|
116 / 7739
|
|
3
|
(HPO:0000463)
|
Anteverted nares |
|
|
|
|
305 / 7739
|
|
4
|
(HPO:0000490)
|
Deeply set eye |
|
|
|
|
131 / 7739
|
|
5
|
(HPO:0000733)
|
Stereotypy |
|
|
|
|
58 / 7739
|
|
6
|
(HPO:0000817)
|
Poor eye contact |
|
|
|
|
26 / 7739
|
|
7
|
(HPO:0001182)
|
Tapered finger |
|
|
|
|
93 / 7739
|
|
8
|
(HPO:0001252)
|
Muscular hypotonia |
|
|
|
|
990 / 7739
|
|
9
|
(HPO:0001324)
|
Muscle weakness |
|
|
|
|
859 / 7739
|
|
10
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
|
11
|
(HPO:0001336)
|
Myoclonus |
|
|
|
|
115 / 7739
|
|
12
|
(HPO:0001773)
|
Short foot |
|
|
|
|
86 / 7739
|
|
13
|
(HPO:0002019)
|
Constipation |
|
|
|
|
194 / 7739
|
|
14
|
(HPO:0002020)
|
Gastroesophageal reflux |
|
|
|
|
101 / 7739
|
|
15
|
(HPO:0002123)
|
Generalized myoclonic seizures |
|
|
|
|
62 / 7739
|
|
16
|
(HPO:0002187)
|
Intellectual disability, profound |
|
|
|
|
44 / 7739
|
|
17
|
(HPO:0002521)
|
Hypsarrhythmia |
|
|
|
|
43 / 7739
|
|
18
|
(HPO:0002650)
|
Scoliosis |
|
|
|
|
705 / 7739
|
|
19
|
(HPO:0002883)
|
Hyperventilation |
|
|
|
|
10 / 7739
|
|
20
|
(HPO:0011220)
|
Prominent forehead |
|
|
|
|
137 / 7739
|
|
21
|
(HPO:0012469)
|
Infantile spasms |
|
|
|
|
18 / 7739
|
|
22
|
(HPO:0200055)
|
Small hand |
|
|
|
|
71 / 7739
|
|
23
|
(OMIM)
|
Large-appearing eyes |
|
|
|
|
1 / 7739
|
|
24
|
(OMIM)
|
Well-defined eyebrows |
|
|
|
|
2 / 7739
|
|
25
|
(HPO:0012471)
|
Thick vermilion border |
|
|
|
|
115 / 7739
|
|
26
|
(OMIM)
|
Breath-holding episodes |
|
|
|
|
2 / 7739
|
|
27
|
(HPO:0008947)
|
Infantile muscular hypotonia |
|
|
|
|
482 / 7739
|
|
28
|
(HPO:0010547)
|
Muscle flaccidity |
|
|
|
|
466 / 7739
|
|
29
|
(OMIM)
|
Seizures, infantile onset |
|
|
|
|
4 / 7739
|
|
30
|
(OMIM)
|
Multifocal seizures |
|
|
|
|
2 / 7739
|
|
31
|
(HPO:0002197)
|
Generalized seizures |
|
|
|
|
30 / 7739
|
|
32
|
(HPO:0002069)
|
Generalized tonic-clonic seizures |
|
|
|
|
96 / 7739
|
|
33
|
(OMIM)
|
Psychomotor regression may occur |
|
|
|
|
1 / 7739
|
|
34
|
(OMIM)
|
Lack of speech development |
|
|
|
|
20 / 7739
|
|
35
|
(OMIM)
|
Motor dyspraxia |
|
|
|
|
2 / 7739
|
|
36
|
(OMIM)
|
Inability to walk independently |
|
|
|
|
4 / 7739
|
|
37
|
(HPO:0002353)
|
EEG abnormality |
|
|
|
|
188 / 7739
|
|
38
|
(HPO:0100785)
|
Insomnia |
|
|
|
|
18 / 7739
|
|
39
|
(OMIM)
|
Autonomic disturbances |
|
|
|
|
1 / 7739
|
|
40
|
(OMIM)
|
[DEL]Autistic features |
|
|
|
|
43 / 7739
|
|
41
|
(OMIM)
|
Hand-wringing |
|
|
|
|
1 / 7739
|