|
1
|
(HPO:0000252)
|
Microcephaly |
|
|
|
|
832 / 7739
|
|
2
|
(HPO:0000572)
|
Visual loss |
|
|
|
|
272 / 7739
|
|
3
|
(HPO:0000648)
|
Optic atrophy |
rare [HPO:skoehler]
|
|
|
|
238 / 7739
|
|
4
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
|
5
|
(HPO:0001269)
|
Hemiparesis |
|
|
|
|
51 / 7739
|
|
6
|
(HPO:0001332)
|
Dystonia |
|
|
|
|
197 / 7739
|
|
7
|
(HPO:0001336)
|
Myoclonus |
|
|
|
|
115 / 7739
|
|
8
|
(HPO:0002071)
|
Abnormality of extrapyramidal motor function |
|
|
|
|
76 / 7739
|
|
9
|
(HPO:0002133)
|
Status epilepticus |
|
|
|
|
59 / 7739
|
|
10
|
(HPO:0002376)
|
Developmental regression |
|
|
|
|
74 / 7739
|
|
11
|
(HPO:0006829)
|
Severe muscular hypotonia |
|
|
|
|
29 / 7739
|
|
12
|
(HPO:0012448)
|
Delayed myelination |
|
|
|
|
51 / 7739
|
|
13
|
(HPO:0200134)
|
Epileptic encephalopathy |
|
|
|
|
42 / 7739
|
|
14
|
(HPO:0005484)
|
Postnatal microcephaly |
|
|
|
|
32 / 7739
|
|
15
|
(OMIM)
|
Loss of eye contact |
|
|
|
|
1 / 7739
|
|
16
|
(OMIM)
|
Seizures, tonic, clonic, focal |
|
|
|
|
1 / 7739
|
|
17
|
(OMIM)
|
Prolonged seizures |
|
|
|
|
1 / 7739
|
|
18
|
(OMIM)
|
Migrating clonic jerks (in some patients) |
|
|
|
|
1 / 7739
|
|
19
|
(HPO:0001252)
|
Muscular hypotonia |
|
|
|
|
990 / 7739
|
|
20
|
(HPO:0001324)
|
Muscle weakness |
|
|
|
|
859 / 7739
|
|
21
|
(HPO:0008947)
|
Infantile muscular hypotonia |
|
|
|
|
482 / 7739
|
|
22
|
(HPO:0010547)
|
Muscle flaccidity |
|
|
|
|
466 / 7739
|
|
23
|
(OMIM)
|
Multifocal spikes and progressive slowing of background activity seen on EEG |
|
|
|
|
1 / 7739
|
|
24
|
(OMIM)
|
Progressive cerebral atrophy seen on MRI |
|
|
|
|
1 / 7739
|
|
25
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
26
|
(HPO:0003676)
|
Progressive disorder |
|
|
|
|
148 / 7739
|