|
1
|
(HPO:0000514)
|
Slow saccadic eye movements |
|
|
|
|
21 / 7739
|
|
2
|
(HPO:0000639)
|
Nystagmus |
|
|
|
|
555 / 7739
|
|
3
|
(HPO:0000657)
|
Oculomotor apraxia |
|
|
|
|
54 / 7739
|
|
4
|
(HPO:0001260)
|
Dysarthria |
|
|
|
|
329 / 7739
|
|
5
|
(HPO:0001265)
|
Hyporeflexia |
|
|
|
|
208 / 7739
|
|
6
|
(HPO:0001284)
|
Areflexia |
|
|
|
|
198 / 7739
|
|
7
|
(HPO:0001272)
|
Cerebellar atrophy |
|
|
|
|
197 / 7739
|
|
8
|
(HPO:0001310)
|
Dysmetria |
|
|
|
|
76 / 7739
|
|
9
|
(HPO:0002359)
|
Frequent falls |
|
|
|
|
24 / 7739
|
|
10
|
(OMIM)
|
Impaired ocular movements |
|
|
|
|
1 / 7739
|
|
11
|
(OMIM)
|
Head-eye lag |
|
|
|
|
1 / 7739
|
|
12
|
(OMIM)
|
Distal muscle atrophy, predominantly lower limbs |
|
|
|
|
1 / 7739
|
|
13
|
(OMIM)
|
Distal muscle weakness, predominantly lower limbs |
|
|
|
|
1 / 7739
|
|
14
|
(HPO:0001251)
|
Ataxia |
|
|
|
|
413 / 7739
|
|
15
|
(OMIM)
|
[DEL]Unstable gait |
|
|
|
|
4 / 7739
|
|
16
|
(OMIM)
|
Axonal sensory polyneuropathy |
|
|
|
|
4 / 7739
|
|
17
|
(HPO:0002936)
|
Distal sensory impairment |
|
|
|
|
96 / 7739
|
|
18
|
(OMIM)
|
Increased alpha-fetoprotein |
|
|
|
|
5 / 7739
|
|
19
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
20
|
(HPO:0003676)
|
Progressive disorder |
|
|
|
|
148 / 7739
|