1
|
(HPO:0000486)
|
Strabismus |
|
|
|
|
576 / 7739
|
2
|
(HPO:0000640)
|
Gaze-evoked nystagmus |
12/14 [HPO]
|
|
12489043
|
IBIS
|
27 / 7739
|
3
|
(HPO:0000641)
|
Dysmetric saccades |
|
|
|
|
10 / 7739
|
4
|
(HPO:0000716)
|
Depression |
2/14 [HPO]
|
|
12489043
|
IBIS
|
99 / 7739
|
5
|
(HPO:0001256)
|
Intellectual disability, mild |
|
|
|
|
141 / 7739
|
6
|
(HPO:0001260)
|
Dysarthria |
11/14 [HPO]
|
|
16211615
|
IBIS
|
329 / 7739
|
7
|
(HPO:0001272)
|
Cerebellar atrophy |
2/9 [HPO]
|
|
16211615
|
IBIS
|
197 / 7739
|
8
|
(HPO:0001761)
|
Pes cavus |
3/17 [HPO]
|
|
19471976
|
IBIS
|
225 / 7739
|
9
|
(HPO:0001251)
|
Ataxia |
|
|
|
|
413 / 7739
|
10
|
(HPO:0002066)
|
Gait ataxia |
11/14 [HPO]
|
|
16211615
|
IBIS
|
327 / 7739
|
11
|
(HPO:0002070)
|
Limb ataxia |
12/14 [HPO]
|
|
16211615
|
IBIS
|
41 / 7739
|
12
|
(HPO:0002078)
|
Truncal ataxia |
|
|
|
|
41 / 7739
|
13
|
(HPO:0002174)
|
Postural tremor |
12/14 [HPO]
|
|
16211615
|
IBIS
|
22 / 7739
|
14
|
(HPO:0002310)
|
Orofacial dyskinesia |
8/14 [HPO]
|
|
16211615
|
IBIS
|
10 / 7739
|
15
|
(HPO:0002346)
|
Head tremor |
|
|
|
|
9 / 7739
|
16
|
(HPO:0002354)
|
Memory impairment |
|
|
|
|
63 / 7739
|
17
|
(HPO:0002495)
|
Impaired vibratory sensation |
9/14 [HPO]
|
|
16211615
|
IBIS
|
26 / 7739
|
18
|
(HPO:0003390)
|
Sensory axonal neuropathy |
|
|
|
|
26 / 7739
|
19
|
(HPO:0007772)
|
Impaired smooth pursuit |
|
|
|
|
21 / 7739
|
20
|
(HPO:0000617)
|
Abnormality of ocular smooth pursuit |
|
|
|
|
6 / 7739
|
21
|
(OMIM)
|
Red-blind color blindness (reported in 1 patient) |
|
|
|
|
1 / 7739
|
22
|
(OMIM)
|
Tremor, small-amplitude, high-frequency, restricted to the hands |
|
|
|
|
1 / 7739
|
23
|
(OMIM)
|
Head tremor, mild |
|
|
|
|
1 / 7739
|
24
|
(OMIM)
|
Tremor is exacerbated by stress and exercise |
|
|
|
|
1 / 7739
|
25
|
(OMIM)
|
Poor cognition |
|
|
|
|
1 / 7739
|
26
|
(MedDRA:10004153)
|
Basal ganglion degeneration |
|
|
|
|
2 / 7739
|
27
|
(OMIM)
|
Sensory axonal neuropathy, mild |
|
|
|
|
1 / 7739
|
28
|
(OMIM)
|
Aggressive outbursts |
|
|
|
|
3 / 7739
|
29
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
30
|
(HPO:0003677)
|
Slow progression |
|
|
|
|
134 / 7739
|