|
1
|
(HPO:0000317)
|
Facial myokymia |
|
|
|
|
5 / 7739
|
|
2
|
(HPO:0000640)
|
Gaze-evoked nystagmus |
|
|
|
|
27 / 7739
|
|
3
|
(HPO:0001260)
|
Dysarthria |
|
|
|
|
329 / 7739
|
|
4
|
(HPO:0001263)
|
Global developmental delay |
rare [HPO:skoehler]
|
|
|
|
853 / 7739
|
|
5
|
(HPO:0001272)
|
Cerebellar atrophy |
|
|
|
|
197 / 7739
|
|
6
|
(HPO:0001310)
|
Dysmetria |
|
|
|
|
76 / 7739
|
|
7
|
(HPO:0001347)
|
Hyperreflexia |
|
|
|
|
363 / 7739
|
|
8
|
(HPO:0001251)
|
Ataxia |
|
|
|
|
413 / 7739
|
|
9
|
(HPO:0002066)
|
Gait ataxia |
|
|
|
|
327 / 7739
|
|
10
|
(HPO:0002311)
|
Incoordination |
|
|
|
|
84 / 7739
|
|
11
|
(HPO:0002070)
|
Limb ataxia |
|
|
|
|
41 / 7739
|
|
12
|
(HPO:0002075)
|
Dysdiadochokinesis |
|
|
|
|
40 / 7739
|
|
13
|
(HPO:0002080)
|
Intention tremor |
|
|
|
|
44 / 7739
|
|
14
|
(HPO:0002495)
|
Impaired vibratory sensation |
|
|
|
|
26 / 7739
|
|
15
|
(HPO:0007772)
|
Impaired smooth pursuit |
|
|
|
|
21 / 7739
|
|
16
|
(OMIM)
|
Facial myokymia, mild |
|
|
|
|
1 / 7739
|
|
17
|
(HPO:0010545)
|
Downbeat nystagmus |
|
|
|
|
2 / 7739
|
|
18
|
(HPO:0001252)
|
Muscular hypotonia |
rare [HPO:skoehler]
|
|
|
|
990 / 7739
|
|
19
|
(HPO:0001324)
|
Muscle weakness |
|
|
|
|
859 / 7739
|
|
20
|
(HPO:0008947)
|
Infantile muscular hypotonia |
|
|
|
|
482 / 7739
|
|
21
|
(HPO:0010547)
|
Muscle flaccidity |
|
|
|
|
466 / 7739
|
|
22
|
(OMIM)
|
Stance ataxia |
|
|
|
|
1 / 7739
|
|
23
|
(OMIM)
|
Cognitive impairment, mild |
|
|
|
|
15 / 7739
|
|
24
|
(HPO:0007256)
|
Abnormal pyramidal signs |
|
|
|
|
116 / 7739
|
|
25
|
(OMIM)
|
Bulbar dysfunction |
|
|
|
|
4 / 7739
|
|
26
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
27
|
(HPO:0003593)
|
Infantile onset |
rare [HPO:skoehler]
|
|
|
|
249 / 7739
|
|
28
|
(HPO:0003677)
|
Slow progression |
|
|
|
|
134 / 7739
|