|
1
|
(HPO:0001272)
|
Cerebellar atrophy |
|
|
|
|
197 / 7739
|
|
2
|
(HPO:0001310)
|
Dysmetria |
frequent [HPO:skoehler]
|
|
|
|
76 / 7739
|
|
3
|
(HPO:0001347)
|
Hyperreflexia |
|
|
|
|
363 / 7739
|
|
4
|
(HPO:0002061)
|
Lower limb spasticity |
|
|
|
|
56 / 7739
|
|
5
|
(HPO:0002064)
|
Spastic gait |
|
|
|
|
46 / 7739
|
|
6
|
(HPO:0002839)
|
Urinary bladder sphincter dysfunction |
|
|
|
|
34 / 7739
|
|
7
|
(HPO:0003477)
|
Peripheral axonal neuropathy |
common [HPO:skoehler]
|
|
|
|
62 / 7739
|
|
8
|
(HPO:0003487)
|
Babinski sign |
|
|
|
|
179 / 7739
|
|
9
|
(HPO:0007210)
|
Lower limb amyotrophy |
common [HPO:skoehler]
|
|
|
|
7 / 7739
|
|
10
|
(HPO:0007340)
|
Lower limb muscle weakness |
common [HPO:skoehler]
|
|
|
|
61 / 7739
|
|
11
|
(HPO:0011448)
|
Ankle clonus |
|
|
|
|
31 / 7739
|
|
12
|
(OMIM)
|
Saccadic ocular pursuit (in 1 of 3 families) |
|
|
|
|
1 / 7739
|
|
13
|
(OMIM)
|
Sphincter disturbances, mild (in 1 of 3 families) |
|
|
|
|
1 / 7739
|
|
14
|
(OMIM)
|
Lower limb muscle atrophy |
|
|
|
|
4 / 7739
|
|
15
|
(HPO:0001252)
|
Muscular hypotonia |
|
|
|
|
990 / 7739
|
|
16
|
(HPO:0001324)
|
Muscle weakness |
|
|
|
|
859 / 7739
|
|
17
|
(OMIM)
|
Cerebellar signs, mild (in 1 of 3 families) |
|
|
|
|
1 / 7739
|
|
18
|
(HPO:0001251)
|
Ataxia |
|
|
|
|
413 / 7739
|
|
19
|
(OMIM)
|
Cerebellar atrophy, mild |
|
|
|
|
4 / 7739
|
|
20
|
(OMIM)
|
Peripheral sensory loss, distal, mild (in 2 of 3 families) |
|
|
|
|
1 / 7739
|
|
21
|
(HPO:0001258)
|
Spastic paraplegia |
|
|
|
|
97 / 7739
|
|
22
|
(HPO:0003677)
|
Slow progression |
|
|
|
|
134 / 7739
|