|
1
|
(HPO:0001251)
|
Ataxia |
|
|
|
|
413 / 7739
|
|
2
|
(HPO:0001284)
|
Areflexia |
|
|
|
|
198 / 7739
|
|
3
|
(HPO:0001336)
|
Myoclonus |
|
|
|
|
115 / 7739
|
|
4
|
(HPO:0001337)
|
Tremor |
|
|
|
|
200 / 7739
|
|
5
|
(HPO:0002121)
|
Absence seizures |
|
|
|
|
62 / 7739
|
|
6
|
(HPO:0002355)
|
Difficulty walking |
|
|
|
|
61 / 7739
|
|
7
|
(HPO:0002650)
|
Scoliosis |
|
|
|
|
705 / 7739
|
|
8
|
(HPO:0003236)
|
Elevated serum creatine phosphokinase |
|
|
|
|
214 / 7739
|
|
9
|
(HPO:0010819)
|
Atonic seizures |
|
|
|
|
18 / 7739
|
|
10
|
(OMIM)
|
Action myoclonus |
|
|
|
|
3 / 7739
|
|
11
|
(HPO:0001250)
|
Seizures |
|
|
|
|
1245 / 7739
|
|
12
|
(HPO:0002069)
|
Generalized tonic-clonic seizures |
|
|
|
|
96 / 7739
|
|
13
|
(OMIM)
|
Tremor, variable |
|
|
|
|
1 / 7739
|
|
14
|
(OMIM)
|
EEG shows active generalized spike and wave and polyspike pattern |
|
|
|
|
1 / 7739
|
|
15
|
(OMIM)
|
EEG shows photosensitivity |
|
|
|
|
1 / 7739
|
|
16
|
(OMIM)
|
Cognitive impairment, mild |
|
|
|
|
15 / 7739
|
|
17
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
18
|
(HPO:0001260)
|
Dysarthria |
|
|
|
|
329 / 7739
|
|
19
|
(HPO:0003676)
|
Progressive disorder |
|
|
|
|
148 / 7739
|