|
1
|
(HPO:0000514)
|
Slow saccadic eye movements |
|
|
|
|
21 / 7739
|
|
2
|
(HPO:0001260)
|
Dysarthria |
|
|
|
|
329 / 7739
|
|
3
|
(HPO:0001272)
|
Cerebellar atrophy |
|
|
|
|
197 / 7739
|
|
4
|
(HPO:0001274)
|
Agenesis of corpus callosum |
rare [HPO:skoehler]
|
|
|
|
142 / 7739
|
|
5
|
(HPO:0001310)
|
Dysmetria |
|
|
|
|
76 / 7739
|
|
6
|
(HPO:0001337)
|
Tremor |
rare [HPO:skoehler]
|
|
|
|
200 / 7739
|
|
7
|
(HPO:0001347)
|
Hyperreflexia |
|
|
|
|
363 / 7739
|
|
8
|
(HPO:0002066)
|
Gait ataxia |
|
|
|
|
327 / 7739
|
|
9
|
(HPO:0002070)
|
Limb ataxia |
|
|
|
|
41 / 7739
|
|
10
|
(HPO:0002166)
|
Impaired vibration sensation in the lower limbs |
|
|
|
|
26 / 7739
|
|
11
|
(HPO:0002529)
|
Neuronal loss in central nervous system |
|
|
|
|
37 / 7739
|
|
12
|
(HPO:0003487)
|
Babinski sign |
|
|
|
|
179 / 7739
|
|
13
|
(HPO:0007141)
|
Sensorimotor neuropathy |
|
|
|
|
27 / 7739
|
|
14
|
(HPO:0007305)
|
CNS demyelination |
|
|
|
|
21 / 7739
|
|
15
|
(MedDRA:10063534)
|
Ocular dysmetria |
|
|
|
|
3 / 7739
|
|
16
|
(OMIM)
|
Mild cognitive decline (1 patient) |
|
|
|
|
1 / 7739
|
|
17
|
(OMIM)
|
Cortical and subcortical atrophy (1 patient) |
|
|
|
|
1 / 7739
|
|
18
|
(OMIM)
|
Neuronal loss in the Purkinje cell layer of the cerebellar vermis |
|
|
|
|
1 / 7739
|
|
19
|
(OMIM)
|
Neuronal loss in the dentate nuclei |
|
|
|
|
1 / 7739
|
|
20
|
(OMIM)
|
Neuronal loss in the inferior olives |
|
|
|
|
1 / 7739
|
|
21
|
(OMIM)
|
Thinning of the cerebellopontine tracts |
|
|
|
|
1 / 7739
|
|
22
|
(OMIM)
|
Demyelination of the posterior and lateral columns of the spinal cord |
|
|
|
|
1 / 7739
|
|
23
|
(OMIM)
|
Mixed axonal polyneuropathy |
|
|
|
|
1 / 7739
|
|
24
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
25
|
(HPO:0003677)
|
Slow progression |
|
|
|
|
134 / 7739
|