|
1
|
(HPO:0000508)
|
Ptosis |
|
|
|
|
459 / 7739
|
|
2
|
(HPO:0001488)
|
Bilateral ptosis |
|
|
|
|
42 / 7739
|
|
3
|
(HPO:0006136)
|
Bilateral postaxial polydactyly |
|
|
|
|
30 / 7739
|
|
4
|
(HPO:0000514)
|
Slow saccadic eye movements |
|
|
|
|
21 / 7739
|
|
5
|
(HPO:0000544)
|
External ophthalmoplegia |
|
|
|
|
40 / 7739
|
|
6
|
(HPO:0000597)
|
Ophthalmoparesis |
|
|
|
|
71 / 7739
|
|
7
|
(HPO:0000602)
|
Ophthalmoplegia |
|
|
|
|
56 / 7739
|
|
8
|
(HPO:0000640)
|
Gaze-evoked nystagmus |
|
|
|
|
27 / 7739
|
|
9
|
(HPO:0000641)
|
Dysmetric saccades |
|
|
|
|
10 / 7739
|
|
10
|
(HPO:0001257)
|
Spasticity |
|
|
|
|
251 / 7739
|
|
11
|
(HPO:0001260)
|
Dysarthria |
|
|
|
|
329 / 7739
|
|
12
|
(HPO:0001272)
|
Cerebellar atrophy |
|
|
|
|
197 / 7739
|
|
13
|
(HPO:0001300)
|
Parkinsonism |
rare [HPO:skoehler]
|
|
|
|
75 / 7739
|
|
14
|
(HPO:0001332)
|
Dystonia |
rare [HPO:skoehler]
|
|
|
|
197 / 7739
|
|
15
|
(HPO:0002066)
|
Gait ataxia |
|
|
|
|
327 / 7739
|
|
16
|
(HPO:0002070)
|
Limb ataxia |
|
|
|
|
41 / 7739
|
|
17
|
(HPO:0002395)
|
Lower limb hyperreflexia |
|
|
|
|
26 / 7739
|
|
18
|
(HPO:0003487)
|
Babinski sign |
|
|
|
|
179 / 7739
|
|
19
|
(HPO:0000496)
|
Abnormality of eye movement |
|
|
|
|
79 / 7739
|
|
20
|
(OMIM)
|
Smooth pursuit abnormalities |
|
|
|
|
1 / 7739
|
|
21
|
(OMIM)
|
Increased muscle tone in the lower limbs |
|
|
|
|
1 / 7739
|
|
22
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
23
|
(HPO:0003677)
|
Slow progression |
|
|
|
|
134 / 7739
|