|
1
|
(HPO:0000514)
|
Slow saccadic eye movements |
|
|
|
|
21 / 7739
|
|
2
|
(HPO:0000543)
|
Optic disc pallor |
|
|
|
|
67 / 7739
|
|
3
|
(HPO:0000623)
|
Supranuclear ophthalmoplegia |
|
|
|
|
5 / 7739
|
|
4
|
(HPO:0000640)
|
Gaze-evoked nystagmus |
|
|
|
|
27 / 7739
|
|
5
|
(HPO:0000641)
|
Dysmetric saccades |
|
|
|
|
10 / 7739
|
|
6
|
(HPO:0000648)
|
Optic atrophy |
|
|
|
|
238 / 7739
|
|
7
|
(HPO:0001151)
|
Impaired horizontal smooth pursuit |
|
|
|
|
7 / 7739
|
|
8
|
(HPO:0001252)
|
Muscular hypotonia |
|
|
|
|
990 / 7739
|
|
9
|
(HPO:0001324)
|
Muscle weakness |
|
|
|
|
859 / 7739
|
|
10
|
(HPO:0001257)
|
Spasticity |
|
|
|
|
251 / 7739
|
|
11
|
(HPO:0001260)
|
Dysarthria |
|
|
|
|
329 / 7739
|
|
12
|
(HPO:0001283)
|
Bulbar palsy |
|
|
|
|
31 / 7739
|
|
13
|
(HPO:0001284)
|
Areflexia |
|
|
|
|
198 / 7739
|
|
14
|
(HPO:0001310)
|
Dysmetria |
|
|
|
|
76 / 7739
|
|
15
|
(HPO:0001347)
|
Hyperreflexia |
|
|
|
|
363 / 7739
|
|
16
|
(HPO:0002267)
|
Exaggerated startle response |
|
|
|
|
42 / 7739
|
|
17
|
(HPO:0007034)
|
Generalized hyperreflexia |
|
|
|
|
33 / 7739
|
|
18
|
(HPO:0002015)
|
Dysphagia |
|
|
|
|
301 / 7739
|
|
19
|
(HPO:0002070)
|
Limb ataxia |
|
|
|
|
41 / 7739
|
|
20
|
(HPO:0002071)
|
Abnormality of extrapyramidal motor function |
|
|
|
|
76 / 7739
|
|
21
|
(HPO:0002072)
|
Chorea |
|
|
|
|
53 / 7739
|
|
22
|
(HPO:0002073)
|
Progressive cerebellar ataxia |
|
|
|
|
27 / 7739
|
|
23
|
(HPO:0002075)
|
Dysdiadochokinesis |
|
|
|
|
40 / 7739
|
|
24
|
(HPO:0002078)
|
Truncal ataxia |
|
|
|
|
41 / 7739
|
|
25
|
(HPO:0002168)
|
Scanning speech |
|
|
|
|
10 / 7739
|
|
26
|
(HPO:0002198)
|
Dilated fourth ventricle |
|
|
|
|
12 / 7739
|
|
27
|
(HPO:0002495)
|
Impaired vibratory sensation |
|
|
|
|
26 / 7739
|
|
28
|
(HPO:0002503)
|
Spinocerebellar tract degeneration |
|
|
|
|
8 / 7739
|
|
29
|
(HPO:0002542)
|
Olivopontocerebellar atrophy |
|
|
|
|
11 / 7739
|
|
30
|
(HPO:0002839)
|
Urinary bladder sphincter dysfunction |
|
|
|
|
34 / 7739
|
|
31
|
(HPO:0003431)
|
Decreased motor nerve conduction velocity |
2/9 [HPO:probinson]
|
|
9448569
|
IBIS
|
51 / 7739
|
|
32
|
(HPO:0003448)
|
Decreased sensory nerve conduction velocity |
1/9 [HPO:probinson]
|
|
9448569
|
IBIS
|
9 / 7739
|
|
33
|
(HPO:0003487)
|
Babinski sign |
|
|
|
|
179 / 7739
|
|
34
|
(HPO:0003693)
|
Distal amyotrophy |
|
|
|
|
118 / 7739
|
|
35
|
(HPO:0007006)
|
Dorsal column degeneration |
|
|
|
|
2 / 7739
|
|
36
|
(HPO:0007078)
|
Decreased amplitude of sensory action potentials |
9/9 [HPO:probinson]
|
|
9448569
|
IBIS
|
5 / 7739
|
|
37
|
(HPO:0100543)
|
Cognitive impairment |
|
|
|
|
230 / 7739
|
|
38
|
(HPO:0008947)
|
Infantile muscular hypotonia |
|
|
|
|
482 / 7739
|
|
39
|
(HPO:0010547)
|
Muscle flaccidity |
|
|
|
|
466 / 7739
|
|
40
|
(HPO:0007256)
|
Abnormal pyramidal signs |
|
|
|
|
116 / 7739
|
|
41
|
(OMIM)
|
Fasciculation-like movements |
|
|
|
|
3 / 7739
|
|
42
|
(OMIM)
|
Cognitive impairment, mild |
|
|
|
|
15 / 7739
|
|
43
|
(OMIM)
|
Posterior column degeneration |
|
|
|
|
2 / 7739
|
|
44
|
(HPO:0009830)
|
Peripheral neuropathy |
|
|
|
|
206 / 7739
|
|
45
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
46
|
(HPO:0003581)
|
Adult onset |
|
|
|
|
117 / 7739
|
|
47
|
(HPO:0003744)
|
Genetic anticipation with paternal anticipation bias |
|
|
|
|
2 / 7739
|
|
48
|
(HPO:0007263)
|
Spinocerebellar atrophy |
|
|
|
|
3 / 7739
|