|
1
|
(HPO:0000639)
|
Nystagmus |
|
|
|
|
555 / 7739
|
|
2
|
(HPO:0001249)
|
Intellectual disability |
rare [HPO:skoehler]
|
|
|
|
1089 / 7739
|
|
3
|
(HPO:0001272)
|
Cerebellar atrophy |
|
|
|
|
197 / 7739
|
|
4
|
(HPO:0001347)
|
Hyperreflexia |
|
|
|
|
363 / 7739
|
|
5
|
(HPO:0001761)
|
Pes cavus |
|
|
|
|
225 / 7739
|
|
6
|
(HPO:0002066)
|
Gait ataxia |
|
|
|
|
327 / 7739
|
|
7
|
(HPO:0002070)
|
Limb ataxia |
|
|
|
|
41 / 7739
|
|
8
|
(HPO:0002380)
|
Fasciculations |
|
|
|
|
42 / 7739
|
|
9
|
(HPO:0007338)
|
Hypermetric saccades |
|
|
|
|
5 / 7739
|
|
10
|
(OMIM)
|
Saccadic pursuit |
|
|
|
|
7 / 7739
|
|
11
|
(OMIM)
|
Tortuous conjunctival vessels (1 family) |
|
|
|
|
1 / 7739
|
|
12
|
(OMIM)
|
Mild atrophy of the proximal lower limbs |
|
|
|
|
1 / 7739
|
|
13
|
(OMIM)
|
EMG may show mild lower motor neuron involvement |
|
|
|
|
1 / 7739
|
|
14
|
(OMIM)
|
Cerebellar atrophy, severe |
|
|
|
|
1 / 7739
|
|
15
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
16
|
(HPO:0001260)
|
Dysarthria |
|
|
|
|
329 / 7739
|
|
17
|
(HPO:0001310)
|
Dysmetria |
|
|
|
|
76 / 7739
|
|
18
|
(HPO:0002078)
|
Truncal ataxia |
|
|
|
|
41 / 7739
|
|
19
|
(HPO:0002080)
|
Intention tremor |
rare [HPO:skoehler]
|
|
|
|
44 / 7739
|