|
1
|
(HPO:0000737)
|
Irritability |
|
|
|
|
93 / 7739
|
|
2
|
(HPO:0000817)
|
Poor eye contact |
|
|
|
|
26 / 7739
|
|
3
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
|
4
|
(HPO:0002187)
|
Intellectual disability, profound |
|
|
|
|
44 / 7739
|
|
5
|
(HPO:0002476)
|
Primitive reflex |
|
|
|
|
9 / 7739
|
|
6
|
(HPO:0002521)
|
Hypsarrhythmia |
|
|
|
|
43 / 7739
|
|
7
|
(HPO:0011097)
|
Epileptic spasms |
|
|
|
|
45 / 7739
|
|
8
|
(HPO:0011398)
|
Central hypotonia |
|
|
|
|
12 / 7739
|
|
9
|
(OMIM)
|
Seizures, infantile onset |
|
|
|
|
4 / 7739
|
|
10
|
(OMIM)
|
Lack of speech development |
|
|
|
|
20 / 7739
|
|
11
|
(OMIM)
|
Inability to hold head |
|
|
|
|
1 / 7739
|
|
12
|
(HPO:0001252)
|
Muscular hypotonia |
|
|
|
|
990 / 7739
|
|
13
|
(HPO:0001324)
|
Muscle weakness |
|
|
|
|
859 / 7739
|
|
14
|
(HPO:0008947)
|
Infantile muscular hypotonia |
|
|
|
|
482 / 7739
|
|
15
|
(HPO:0010547)
|
Muscle flaccidity |
|
|
|
|
466 / 7739
|
|
16
|
(OMIM)
|
Inability to walk independently |
|
|
|
|
4 / 7739
|
|
17
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
18
|
(HPO:0200134)
|
Epileptic encephalopathy |
|
|
|
|
42 / 7739
|