1
|
(HPO:0000252)
|
Microcephaly |
|
|
|
|
832 / 7739
|
2
|
(HPO:0000817)
|
Poor eye contact |
rare [HPO:skoehler]
|
|
|
|
26 / 7739
|
3
|
(HPO:0001257)
|
Spasticity |
|
|
|
|
251 / 7739
|
4
|
(HPO:0001347)
|
Hyperreflexia |
|
|
|
|
363 / 7739
|
5
|
(HPO:0002079)
|
Hypoplasia of the corpus callosum |
|
|
|
|
161 / 7739
|
6
|
(HPO:0002120)
|
Cerebral cortical atrophy |
|
|
|
|
187 / 7739
|
7
|
(HPO:0002133)
|
Status epilepticus |
|
|
|
|
59 / 7739
|
8
|
(HPO:0002169)
|
Clonus |
|
|
|
|
37 / 7739
|
9
|
(HPO:0002171)
|
Gliosis |
|
|
|
|
48 / 7739
|
10
|
(HPO:0002376)
|
Developmental regression |
|
|
|
|
74 / 7739
|
11
|
(HPO:0002445)
|
Tetraplegia |
|
|
|
|
26 / 7739
|
12
|
(HPO:0002529)
|
Neuronal loss in central nervous system |
|
|
|
|
37 / 7739
|
13
|
(OMIM)
|
Facial twitching |
|
|
|
|
1 / 7739
|
14
|
(OMIM)
|
Eye deviation |
|
|
|
|
2 / 7739
|
15
|
(MedDRA:10041953)
|
Staring |
|
|
|
|
5 / 7739
|
16
|
(HPO:0001252)
|
Muscular hypotonia |
|
|
|
|
990 / 7739
|
17
|
(HPO:0001324)
|
Muscle weakness |
|
|
|
|
859 / 7739
|
18
|
(HPO:0008947)
|
Infantile muscular hypotonia |
|
|
|
|
482 / 7739
|
19
|
(HPO:0010547)
|
Muscle flaccidity |
|
|
|
|
466 / 7739
|
20
|
(OMIM)
|
Seizures, partial with secondary generalization, focal at onset, usually motor |
|
|
|
|
1 / 7739
|
21
|
(OMIM)
|
Psychomotor regression, severe |
|
|
|
|
1 / 7739
|
22
|
(OMIM)
|
Lack of speech development |
|
|
|
|
20 / 7739
|
23
|
(OMIM)
|
Lack of motor development |
|
|
|
|
3 / 7739
|
24
|
(OMIM)
|
Spasticity of the lower limbs |
|
|
|
|
5 / 7739
|
25
|
(OMIM)
|
Autonomic manifestations |
|
|
|
|
1 / 7739
|
26
|
(OMIM)
|
Multifocal discharges seen on EEG |
|
|
|
|
2 / 7739
|
27
|
(OMIM)
|
Migrating focal discharges from one cortical region to another seen on EEG |
|
|
|
|
1 / 7739
|
28
|
(OMIM)
|
Delayed myelination seen on MRI |
|
|
|
|
1 / 7739
|
29
|
(OMIM)
|
Neuronal loss in the hippocampus |
|
|
|
|
1 / 7739
|
30
|
(OMIM)
|
Reactive gliosis |
|
|
|
|
3 / 7739
|
31
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
32
|
(HPO:0003676)
|
Progressive disorder |
|
|
|
|
148 / 7739
|
33
|
(HPO:0200134)
|
Epileptic encephalopathy |
|
|
|
|
42 / 7739
|