|
1
|
(HPO:0000571)
|
Hypometric saccades |
|
|
|
|
10 / 7739
|
|
2
|
(HPO:0000640)
|
Gaze-evoked nystagmus |
|
|
|
|
27 / 7739
|
|
3
|
(HPO:0000657)
|
Oculomotor apraxia |
|
|
|
|
54 / 7739
|
|
4
|
(HPO:0001260)
|
Dysarthria |
|
|
|
|
329 / 7739
|
|
5
|
(HPO:0001265)
|
Hyporeflexia |
|
|
|
|
208 / 7739
|
|
6
|
(HPO:0001272)
|
Cerebellar atrophy |
|
|
|
|
197 / 7739
|
|
7
|
(HPO:0001332)
|
Dystonia |
|
|
|
|
197 / 7739
|
|
8
|
(HPO:0002061)
|
Lower limb spasticity |
|
|
|
|
56 / 7739
|
|
9
|
(HPO:0002066)
|
Gait ataxia |
|
|
|
|
327 / 7739
|
|
10
|
(HPO:0002072)
|
Chorea |
|
|
|
|
53 / 7739
|
|
11
|
(HPO:0002075)
|
Dysdiadochokinesis |
|
|
|
|
40 / 7739
|
|
12
|
(HPO:0002359)
|
Frequent falls |
|
|
|
|
24 / 7739
|
|
13
|
(HPO:0003693)
|
Distal amyotrophy |
|
|
|
|
118 / 7739
|
|
14
|
(HPO:0007772)
|
Impaired smooth pursuit |
|
|
|
|
21 / 7739
|
|
15
|
(OMIM)
|
Distal muscle wasting, mild |
|
|
|
|
1 / 7739
|
|
16
|
(OMIM)
|
Lower limb spasticity, mild |
|
|
|
|
1 / 7739
|
|
17
|
(MedDRA:10036801)
|
Progressive cerebellar degeneration |
|
|
|
|
1 / 7739
|
|
18
|
(OMIM)
|
Cells show increased sensitivity to ionizing radiation |
|
|
|
|
1 / 7739
|
|
19
|
(OMIM)
|
Defective DNA repair |
|
|
|
|
1 / 7739
|
|
20
|
(HPO:0003220)
|
Abnormality of chromosome stability |
|
|
|
|
98 / 7739
|
|
21
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
22
|
(HPO:0001009)
|
Telangiectasia |
|
|
|
|
46 / 7739
|
|
23
|
(HPO:0003676)
|
Progressive disorder |
|
|
|
|
148 / 7739
|