|
1
|
(HPO:0000508)
|
Ptosis |
|
|
|
|
459 / 7739
|
|
2
|
(HPO:0000520)
|
Proptosis |
|
|
|
|
192 / 7739
|
|
3
|
(HPO:0000544)
|
External ophthalmoplegia |
34/57 [HPO]
|
|
19659750
|
IBIS
|
40 / 7739
|
|
4
|
(HPO:0000623)
|
Supranuclear ophthalmoplegia |
|
|
|
|
5 / 7739
|
|
5
|
(HPO:0000640)
|
Gaze-evoked nystagmus |
15/20 [HPO]
|
|
10525976
|
IBIS
|
27 / 7739
|
|
6
|
(HPO:0000641)
|
Dysmetric saccades |
|
|
|
|
10 / 7739
|
|
7
|
(HPO:0000651)
|
Diplopia |
|
|
|
|
37 / 7739
|
|
8
|
(HPO:0000726)
|
Dementia |
|
|
|
|
131 / 7739
|
|
9
|
(HPO:0001151)
|
Impaired horizontal smooth pursuit |
|
|
|
|
7 / 7739
|
|
10
|
(HPO:0001251)
|
Ataxia |
57/57 [HPO]
|
|
19659750
|
IBIS
|
413 / 7739
|
|
11
|
(HPO:0001257)
|
Spasticity |
62/139 [HPO]
|
|
18685131
|
IBIS
|
251 / 7739
|
|
12
|
(HPO:0001260)
|
Dysarthria |
30/57 [HPO]
|
|
19659750
|
IBIS
|
329 / 7739
|
|
13
|
(HPO:0001272)
|
Cerebellar atrophy |
|
|
|
|
197 / 7739
|
|
14
|
(HPO:0001300)
|
Parkinsonism |
3/57 [HPO]
|
|
19659750
|
IBIS
|
75 / 7739
|
|
15
|
(HPO:0001332)
|
Dystonia |
17/57 [HPO]
|
|
19659750
|
IBIS
|
197 / 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:0002078)
|
Truncal ataxia |
|
|
|
|
41 / 7739
|
|
22
|
(HPO:0002171)
|
Gliosis |
|
|
|
|
48 / 7739
|
|
23
|
(HPO:0002172)
|
Postural instability |
|
|
|
|
22 / 7739
|
|
24
|
(HPO:0002198)
|
Dilated fourth ventricle |
|
|
|
|
12 / 7739
|
|
25
|
(HPO:0002380)
|
Fasciculations |
12/57 [HPO]
|
|
19659750
|
IBIS
|
42 / 7739
|
|
26
|
(HPO:0002459)
|
Dysautonomia |
Occasional [HPO]
|
|
|
|
34 / 7739
|
|
27
|
(HPO:0002495)
|
Impaired vibratory sensation |
|
|
|
|
26 / 7739
|
|
28
|
(HPO:0002503)
|
Spinocerebellar tract degeneration |
|
|
|
|
8 / 7739
|
|
29
|
(HPO:0002839)
|
Urinary bladder sphincter dysfunction |
|
|
|
|
34 / 7739
|
|
30
|
(HPO:0003394)
|
Muscle cramps |
|
|
|
|
106 / 7739
|
|
31
|
(HPO:0003438)
|
Absent Achilles reflex |
|
|
|
|
9 / 7739
|
|
32
|
(HPO:0003487)
|
Babinski sign |
|
|
|
|
179 / 7739
|
|
33
|
(HPO:0003693)
|
Distal amyotrophy |
|
|
|
|
118 / 7739
|
|
34
|
(HPO:0007089)
|
Facial-lingual fasciculations |
|
|
|
|
1 / 7739
|
|
35
|
(HPO:0012532)
|
Chronic pain |
|
|
|
|
3 / 7739
|
|
36
|
(MedDRA:10014456)
|
Electrooculogram abnormal |
|
|
|
|
3 / 7739
|
|
37
|
(HPO:0007256)
|
Abnormal pyramidal signs |
|
|
|
|
116 / 7739
|
|
38
|
(HPO:0002071)
|
Abnormality of extrapyramidal motor function |
|
|
|
|
76 / 7739
|
|
39
|
(OMIM)
|
Fasciculation-like movements |
|
|
|
|
3 / 7739
|
|
40
|
(OMIM)
|
Autonomic dysfunction may occur |
|
|
|
|
1 / 7739
|
|
41
|
(OMIM)
|
Loss of neurons and gliosis in basal ganglia, cranial nerve nuclei, and spinal cord |
|
|
|
|
1 / 7739
|
|
42
|
(OMIM)
|
Cerebellar atrophy, mild |
|
|
|
|
4 / 7739
|
|
43
|
(OMIM)
|
Enlarged fourth ventricle, mild |
|
|
|
|
1 / 7739
|
|
44
|
(OMIM)
|
Mild loss of neurons in the cerebellum |
|
|
|
|
1 / 7739
|
|
45
|
(OMIM)
|
Sparing of the inferior olives |
|
|
|
|
1 / 7739
|
|
46
|
(HPO:0009830)
|
Peripheral neuropathy |
|
|
|
|
206 / 7739
|
|
47
|
(OMIM)
|
Impaired thermal sense |
|
|
|
|
1 / 7739
|
|
48
|
(HPO:0200101)
|
Decreased/absent ankle reflexes |
|
|
|
|
4 / 7739
|
|
49
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
50
|
(HPO:0003676)
|
Progressive disorder |
|
|
|
|
148 / 7739
|
|
51
|
(HPO:0003743)
|
Genetic anticipation |
|
|
|
|
9 / 7739
|