|
1
|
(HPO:0000510)
|
Rod-cone dystrophy |
|
|
|
|
266 / 7739
|
|
2
|
(HPO:0000514)
|
Slow saccadic eye movements |
|
|
|
|
21 / 7739
|
|
3
|
(HPO:0000602)
|
Ophthalmoplegia |
|
|
|
|
56 / 7739
|
|
4
|
(HPO:0000640)
|
Gaze-evoked nystagmus |
|
|
|
|
27 / 7739
|
|
5
|
(HPO:0000641)
|
Dysmetric saccades |
|
|
|
|
10 / 7739
|
|
6
|
(HPO:0000657)
|
Oculomotor apraxia |
|
|
|
|
54 / 7739
|
|
7
|
(HPO:0000726)
|
Dementia |
|
|
|
|
131 / 7739
|
|
8
|
(HPO:0001151)
|
Impaired horizontal smooth pursuit |
|
|
|
|
7 / 7739
|
|
9
|
(HPO:0001252)
|
Muscular hypotonia |
|
|
|
|
990 / 7739
|
|
10
|
(HPO:0001324)
|
Muscle weakness |
|
|
|
|
859 / 7739
|
|
11
|
(HPO:0001257)
|
Spasticity |
|
|
|
|
251 / 7739
|
|
12
|
(HPO:0001260)
|
Dysarthria |
|
|
|
|
329 / 7739
|
|
13
|
(HPO:0001265)
|
Hyporeflexia |
|
|
|
|
208 / 7739
|
|
14
|
(HPO:0001310)
|
Dysmetria |
|
|
|
|
76 / 7739
|
|
15
|
(HPO:0001336)
|
Myoclonus |
|
|
|
|
115 / 7739
|
|
16
|
(HPO:0002015)
|
Dysphagia |
|
|
|
|
301 / 7739
|
|
17
|
(HPO:0002063)
|
Rigidity |
|
|
|
|
92 / 7739
|
|
18
|
(HPO:0002067)
|
Bradykinesia |
|
|
|
|
62 / 7739
|
|
19
|
(HPO:0002070)
|
Limb ataxia |
|
|
|
|
41 / 7739
|
|
20
|
(HPO:0002073)
|
Progressive cerebellar ataxia |
|
|
|
|
27 / 7739
|
|
21
|
(HPO:0002075)
|
Dysdiadochokinesis |
|
|
|
|
40 / 7739
|
|
22
|
(HPO:0002172)
|
Postural instability |
|
|
|
|
22 / 7739
|
|
23
|
(HPO:0002174)
|
Postural tremor |
|
|
|
|
22 / 7739
|
|
24
|
(HPO:0002198)
|
Dilated fourth ventricle |
|
|
|
|
12 / 7739
|
|
25
|
(HPO:0002380)
|
Fasciculations |
|
|
|
|
42 / 7739
|
|
26
|
(HPO:0002495)
|
Impaired vibratory sensation |
|
|
|
|
26 / 7739
|
|
27
|
(HPO:0002503)
|
Spinocerebellar tract degeneration |
|
|
|
|
8 / 7739
|
|
28
|
(HPO:0002542)
|
Olivopontocerebellar atrophy |
|
|
|
|
11 / 7739
|
|
29
|
(HPO:0002839)
|
Urinary bladder sphincter dysfunction |
|
|
|
|
34 / 7739
|
|
30
|
(HPO:0003693)
|
Distal amyotrophy |
|
|
|
|
118 / 7739
|
|
31
|
(HPO:0008947)
|
Infantile muscular hypotonia |
|
|
|
|
482 / 7739
|
|
32
|
(HPO:0010547)
|
Muscle flaccidity |
|
|
|
|
466 / 7739
|
|
33
|
(OMIM)
|
Action and postural tremor |
|
|
|
|
1 / 7739
|
|
34
|
(OMIM)
|
Fasciculation-like movements |
|
|
|
|
3 / 7739
|
|
35
|
(OMIM)
|
Dopamine-responsive parkinsonism |
|
|
|
|
1 / 7739
|
|
36
|
(OMIM)
|
Posterior column degeneration |
|
|
|
|
2 / 7739
|
|
37
|
(HPO:0009830)
|
Peripheral neuropathy |
|
|
|
|
206 / 7739
|
|
38
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
39
|
(HPO:0003743)
|
Genetic anticipation |
|
|
|
|
9 / 7739
|