|
1
|
(HPO:0001347)
|
Hyperreflexia |
Frequent [Orphanet]
|
|
|
|
363 / 7739
|
|
2
|
(HPO:0001250)
|
Seizures |
Occasional [Orphanet]
|
|
|
|
1245 / 7739
|
|
3
|
(HPO:0002066)
|
Gait ataxia |
Very frequent [Orphanet]
|
|
|
|
327 / 7739
|
|
4
|
(HPO:0000615)
|
Abnormality of the pupil |
Very frequent [Orphanet]
|
|
|
|
39 / 7739
|
|
5
|
(HPO:0000616)
|
Miosis |
|
|
|
|
11 / 7739
|
|
6
|
(HPO:0000639)
|
Nystagmus |
Frequent [Orphanet]
|
|
|
|
555 / 7739
|
|
7
|
(HPO:0004374)
|
Hemiplegia/hemiparesis |
Frequent [Orphanet]
|
|
|
|
158 / 7739
|
|
8
|
(HPO:0001276)
|
Hypertonia |
Frequent [Orphanet]
|
|
|
|
317 / 7739
|
|
9
|
(HPO:0000549)
|
Abnormal conjugate eye movement |
|
|
|
|
3 / 7739
|
|
10
|
(HPO:0000648)
|
Optic atrophy |
rare [HPO:skoehler]
|
|
|
|
238 / 7739
|
|
11
|
(HPO:0001260)
|
Dysarthria |
|
|
|
|
329 / 7739
|
|
12
|
(HPO:0002075)
|
Dysdiadochokinesis |
|
|
|
|
40 / 7739
|
|
13
|
(HPO:0002167)
|
Neurological speech impairment |
Very frequent [Orphanet]
|
|
|
|
308 / 7739
|
|
14
|
(HPO:0002497)
|
Spastic ataxia |
|
|
|
|
13 / 7739
|
|
15
|
(HPO:0003487)
|
Babinski sign |
|
|
|
|
179 / 7739
|
|
16
|
(HPO:0007728)
|
Congenital miosis |
|
|
|
|
1 / 7739
|
|
17
|
(OMIM)
|
Lack of pupillary dilation in the dark |
|
|
|
|
1 / 7739
|
|
18
|
(OMIM)
|
Delayed independent walking |
|
|
|
|
1 / 7739
|
|
19
|
(HPO:0002078)
|
Truncal ataxia |
|
|
|
|
41 / 7739
|
|
20
|
(OMIM)
|
Dysarthria, mild |
|
|
|
|
2 / 7739
|
|
21
|
(OMIM)
|
Hyperreflexia, lower limbs more than upper limbs |
|
|
|
|
1 / 7739
|
|
22
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|