|
1
|
(HPO:0000639)
|
Nystagmus |
|
|
|
|
555 / 7739
|
|
2
|
(HPO:0001265)
|
Hyporeflexia |
|
|
|
|
208 / 7739
|
|
3
|
(HPO:0001284)
|
Areflexia |
|
|
|
|
198 / 7739
|
|
4
|
(HPO:0001272)
|
Cerebellar atrophy |
|
|
|
|
197 / 7739
|
|
5
|
(HPO:0001310)
|
Dysmetria |
|
|
|
|
76 / 7739
|
|
6
|
(HPO:0001337)
|
Tremor |
|
|
|
|
200 / 7739
|
|
7
|
(HPO:0001761)
|
Pes cavus |
|
|
|
|
225 / 7739
|
|
8
|
(HPO:0002075)
|
Dysdiadochokinesis |
|
|
|
|
40 / 7739
|
|
9
|
(HPO:0003202)
|
Skeletal muscle atrophy |
|
|
|
|
281 / 7739
|
|
10
|
(HPO:0003390)
|
Sensory axonal neuropathy |
|
|
|
|
26 / 7739
|
|
11
|
(HPO:0003487)
|
Babinski sign |
|
|
|
|
179 / 7739
|
|
12
|
(HPO:0003690)
|
Limb muscle weakness |
|
|
|
|
41 / 7739
|
|
13
|
(HPO:0007240)
|
Progressive gait ataxia |
|
|
|
|
7 / 7739
|
|
14
|
(OMIM)
|
EMG shows fibrillations and fasiculations |
|
|
|
|
1 / 7739
|
|
15
|
(HPO:0000763)
|
Sensory neuropathy |
|
|
|
|
78 / 7739
|
|
16
|
(OMIM)
|
Nerve conduction velocity studies show axonal sensory neuropathy |
|
|
|
|
1 / 7739
|
|
17
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
18
|
(HPO:0003674)
|
Onset |
|
|
|
|
32 / 7739
|