|
1
|
(HPO:0001260)
|
Dysarthria |
|
|
|
|
329 / 7739
|
|
2
|
(HPO:0001265)
|
Hyporeflexia |
|
|
|
|
208 / 7739
|
|
3
|
(HPO:0001272)
|
Cerebellar atrophy |
|
|
|
|
197 / 7739
|
|
4
|
(HPO:0002070)
|
Limb ataxia |
|
|
|
|
41 / 7739
|
|
5
|
(HPO:0002071)
|
Abnormality of extrapyramidal motor function |
|
|
|
|
76 / 7739
|
|
6
|
(HPO:0002073)
|
Progressive cerebellar ataxia |
|
|
|
|
27 / 7739
|
|
7
|
(HPO:0002168)
|
Scanning speech |
|
|
|
|
10 / 7739
|
|
8
|
(HPO:0002174)
|
Postural tremor |
|
|
|
|
22 / 7739
|
|
9
|
(HPO:0002304)
|
Akinesia |
|
|
|
|
18 / 7739
|
|
10
|
(HPO:0002396)
|
Cogwheel rigidity |
|
|
|
|
6 / 7739
|
|
11
|
(HPO:0007792)
|
Microsaccadic pursuit |
|
|
|
|
1 / 7739
|
|
12
|
(HPO:0010526)
|
Dysgraphia |
|
|
|
|
3 / 7739
|
|
13
|
(HPO:0100543)
|
Cognitive impairment |
|
|
|
|
230 / 7739
|
|
14
|
(OMIM)
|
Square wave jerks |
|
|
|
|
1 / 7739
|
|
15
|
(OMIM)
|
Pill rolling tremor |
|
|
|
|
1 / 7739
|
|
16
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
17
|
(HPO:0000514)
|
Slow saccadic eye movements |
|
|
|
|
21 / 7739
|
|
18
|
(HPO:0000639)
|
Nystagmus |
rare [HPO:skoehler]
|
|
|
|
555 / 7739
|
|
19
|
(HPO:0000718)
|
Aggressive behavior |
|
|
|
|
109 / 7739
|
|
20
|
(HPO:0000741)
|
Apathy |
|
|
|
|
42 / 7739
|
|
21
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
22
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
|
23
|
(HPO:0001300)
|
Parkinsonism |
|
|
|
|
75 / 7739
|
|
24
|
(HPO:0002066)
|
Gait ataxia |
|
|
|
|
327 / 7739
|
|
25
|
(HPO:0003677)
|
Slow progression |
|
|
|
|
134 / 7739
|
|
26
|
(HPO:0100710)
|
Impulsivity |
|
|
|
|
16 / 7739
|