|
1
|
(HPO:0000640)
|
Gaze-evoked nystagmus |
|
|
|
|
27 / 7739
|
|
2
|
(HPO:0001151)
|
Impaired horizontal smooth pursuit |
|
|
|
|
7 / 7739
|
|
3
|
(HPO:0001260)
|
Dysarthria |
|
|
|
|
329 / 7739
|
|
4
|
(HPO:0001265)
|
Hyporeflexia |
|
|
|
|
208 / 7739
|
|
5
|
(HPO:0001272)
|
Cerebellar atrophy |
|
|
|
|
197 / 7739
|
|
6
|
(HPO:0001251)
|
Ataxia |
|
|
|
|
413 / 7739
|
|
7
|
(HPO:0002066)
|
Gait ataxia |
|
|
|
|
327 / 7739
|
|
8
|
(HPO:0002070)
|
Limb ataxia |
|
|
|
|
41 / 7739
|
|
9
|
(HPO:0002403)
|
Positive Romberg sign |
|
|
|
|
11 / 7739
|
|
10
|
(OMIM)
|
Normal hearing |
|
|
|
|
9 / 7739
|
|
11
|
(OMIM)
|
Loss of vestibular reflexes |
|
|
|
|
1 / 7739
|
|
12
|
(OMIM)
|
Atrophy of vestibular nerves and ganglion cells (ascertained in 1 patient) |
|
|
|
|
1 / 7739
|
|
13
|
(OMIM)
|
Impairment of compensatory eye movement reflexes |
|
|
|
|
1 / 7739
|
|
14
|
(OMIM)
|
Impaired visually enhanced vestibuloocular reflex (VVOR) |
|
|
|
|
1 / 7739
|
|
15
|
(OMIM)
|
Impaired vestibuloocular reflex (VOR) |
|
|
|
|
1 / 7739
|
|
16
|
(MedDRA:10052087)
|
Oscillopsia |
|
|
|
|
3 / 7739
|
|
17
|
(OMIM)
|
Saccadic movements |
|
|
|
|
1 / 7739
|
|
18
|
(OMIM)
|
Imbalance |
|
|
|
|
1 / 7739
|
|
19
|
(OMIM)
|
Loss of cerebellar Purkinje cells |
|
|
|
|
2 / 7739
|
|
20
|
(HPO:0000763)
|
Sensory neuropathy |
|
|
|
|
78 / 7739
|
|
21
|
(OMIM)
|
Sensory impairment, non length-dependent |
|
|
|
|
1 / 7739
|
|
22
|
(OMIM)
|
Decreased or absent sensory nerve action potentials, upper and lower limbs |
|
|
|
|
1 / 7739
|
|
23
|
(OMIM)
|
Sural nerve biopsy shows axonal loss |
|
|
|
|
2 / 7739
|
|
24
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
25
|
(HPO:0003677)
|
Slow progression |
|
|
|
|
134 / 7739
|
|
26
|
(HPO:0008568)
|
Vestibular areflexia |
|
|
|
|
5 / 7739
|