1
|
(HPO:0001151)
|
Impaired horizontal smooth pursuit |
|
|
|
|
7 / 7739
|
2
|
(HPO:0001258)
|
Spastic paraplegia |
|
|
|
|
97 / 7739
|
3
|
(HPO:0001337)
|
Tremor |
|
|
|
|
200 / 7739
|
4
|
(HPO:0001344)
|
Absent speech |
|
|
|
|
57 / 7739
|
5
|
(HPO:0002059)
|
Cerebral atrophy |
|
|
|
|
171 / 7739
|
6
|
(HPO:0002069)
|
Generalized tonic-clonic seizures |
|
|
|
|
96 / 7739
|
7
|
(HPO:0002079)
|
Hypoplasia of the corpus callosum |
|
|
|
|
161 / 7739
|
8
|
(HPO:0002123)
|
Generalized myoclonic seizures |
|
|
|
|
62 / 7739
|
9
|
(HPO:0002510)
|
Spastic tetraplegia |
|
|
|
|
54 / 7739
|
10
|
(HPO:0002521)
|
Hypsarrhythmia |
|
|
|
|
43 / 7739
|
11
|
(HPO:0006808)
|
Cerebral hypomyelination |
|
|
|
|
16 / 7739
|
12
|
(HPO:0007105)
|
Infantile encephalopathy |
|
|
|
|
5 / 7739
|
13
|
(HPO:0010818)
|
Generalized tonic seizures |
|
|
|
|
8 / 7739
|
14
|
(HPO:0010851)
|
EEG with burst suppression |
|
|
|
|
2 / 7739
|
15
|
(HPO:0010864)
|
Intellectual disability, severe |
|
|
|
|
120 / 7739
|
16
|
(HPO:0011097)
|
Epileptic spasms |
|
|
|
|
45 / 7739
|
17
|
(HPO:0011344)
|
Severe global developmental delay |
|
|
|
|
46 / 7739
|
18
|
(OMIM)
|
Poor visual pursuit |
|
|
|
|
1 / 7739
|
19
|
(OMIM)
|
Seizures, tonic |
|
|
|
|
3 / 7739
|
20
|
(OMIM)
|
No language development |
|
|
|
|
3 / 7739
|
21
|
(HPO:0001252)
|
Muscular hypotonia |
|
|
|
|
990 / 7739
|
22
|
(HPO:0001324)
|
Muscle weakness |
|
|
|
|
859 / 7739
|
23
|
(HPO:0008947)
|
Infantile muscular hypotonia |
|
|
|
|
482 / 7739
|
24
|
(HPO:0010547)
|
Muscle flaccidity |
|
|
|
|
466 / 7739
|
25
|
(OMIM)
|
Brain hypomyelination |
|
|
|
|
2 / 7739
|
26
|
(OMIM)
|
EEG shows burst suppression pattern |
|
|
|
|
3 / 7739
|
27
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
28
|
(HPO:0002133)
|
Status epilepticus |
|
|
|
|
59 / 7739
|
29
|
(HPO:0002376)
|
Developmental regression |
|
|
|
|
74 / 7739
|
30
|
(HPO:0003623)
|
Neonatal onset |
|
|
|
|
22 / 7739
|
31
|
(HPO:0200134)
|
Epileptic encephalopathy |
|
|
|
|
42 / 7739
|