|
1
|
(HPO:0001260)
|
Dysarthria |
|
|
|
|
329 / 7739
|
|
2
|
(HPO:0001310)
|
Dysmetria |
|
|
|
|
76 / 7739
|
|
3
|
(HPO:0001337)
|
Tremor |
|
|
|
|
200 / 7739
|
|
4
|
(HPO:0002123)
|
Generalized myoclonic seizures |
|
|
|
|
62 / 7739
|
|
5
|
(HPO:0003390)
|
Sensory axonal neuropathy |
|
|
|
|
26 / 7739
|
|
6
|
(HPO:0003487)
|
Babinski sign |
|
|
|
|
179 / 7739
|
|
7
|
(HPO:0010819)
|
Atonic seizures |
|
|
|
|
18 / 7739
|
|
8
|
(OMIM)
|
Upward gaze palsy |
|
|
|
|
3 / 7739
|
|
9
|
(OMIM)
|
Delayed walking and running in early childhood |
|
|
|
|
1 / 7739
|
|
10
|
(OMIM)
|
Ataxia, cerebellar, limb and gait |
|
|
|
|
1 / 7739
|
|
11
|
(OMIM)
|
Myoclonic seizures, progressive |
|
|
|
|
1 / 7739
|
|
12
|
(HPO:0002069)
|
Generalized tonic-clonic seizures |
|
|
|
|
96 / 7739
|
|
13
|
(OMIM)
|
Disdiadochokinesia |
|
|
|
|
1 / 7739
|
|
14
|
(OMIM)
|
Tremor, action, progressive |
|
|
|
|
1 / 7739
|
|
15
|
(OMIM)
|
Cognition is spared |
|
|
|
|
1 / 7739
|
|
16
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
17
|
(HPO:0003676)
|
Progressive disorder |
|
|
|
|
148 / 7739
|