|
1
|
(HPO:0000407)
|
Sensorineural hearing impairment |
Occasional [Orphanet]
|
|
|
|
524 / 7739
|
|
2
|
(HPO:0000639)
|
Nystagmus |
Frequent [Orphanet]
|
|
|
|
555 / 7739
|
|
3
|
(HPO:0002167)
|
Neurological speech impairment |
Occasional [Orphanet]
|
|
|
|
308 / 7739
|
|
4
|
(HPO:0001251)
|
Ataxia |
|
|
|
|
413 / 7739
|
|
5
|
(HPO:0002066)
|
Gait ataxia |
Frequent [Orphanet]
|
|
|
|
327 / 7739
|
|
6
|
(HPO:0002353)
|
EEG abnormality |
Occasional [Orphanet]
|
|
|
|
188 / 7739
|
|
7
|
(HPO:0001269)
|
Hemiparesis |
|
|
|
|
51 / 7739
|
|
8
|
(HPO:0002301)
|
Hemiplegia |
|
|
|
|
42 / 7739
|
|
9
|
(HPO:0004374)
|
Hemiplegia/hemiparesis |
Very frequent [Orphanet]
|
|
|
|
158 / 7739
|
|
10
|
(HPO:0100022)
|
Abnormality of movement |
Very frequent [Orphanet]
|
|
|
|
129 / 7739
|
|
11
|
(HPO:0000510)
|
Rod-cone dystrophy |
Occasional [Orphanet]
|
|
|
|
266 / 7739
|
|
12
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
13
|
(HPO:0000709)
|
Psychosis |
|
|
|
|
61 / 7739
|
|
14
|
(HPO:0000713)
|
Agitation |
|
|
|
|
18 / 7739
|
|
15
|
(HPO:0000739)
|
Anxiety |
|
|
|
|
67 / 7739
|
|
16
|
(HPO:0001125)
|
Transient unilateral blurring of vision |
|
|
|
|
4 / 7739
|
|
17
|
(HPO:0001250)
|
Seizures |
rare [HPO:skoehler]
|
|
|
|
1245 / 7739
|
|
18
|
(HPO:0001259)
|
Coma |
|
|
|
|
65 / 7739
|
|
19
|
(HPO:0001272)
|
Cerebellar atrophy |
|
|
|
|
197 / 7739
|
|
20
|
(HPO:0001289)
|
Confusion |
|
|
|
|
36 / 7739
|
|
21
|
(HPO:0001337)
|
Tremor |
rare [HPO:skoehler]
|
|
|
|
200 / 7739
|
|
22
|
(HPO:0001425)
|
Heterogeneous |
|
|
|
|
132 / 7739
|
|
23
|
(HPO:0001945)
|
Fever |
|
|
|
|
218 / 7739
|
|
24
|
(HPO:0002077)
|
Migraine with aura |
|
|
|
|
14 / 7739
|
|
25
|
(HPO:0002329)
|
Drowsiness |
|
|
|
|
19 / 7739
|
|
26
|
(HPO:0002357)
|
Dysphasia |
|
|
|
|
33 / 7739
|
|
27
|
(HPO:0002367)
|
Visual hallucinations |
|
|
|
|
8 / 7739
|
|
28
|
(HPO:0002442)
|
Dyscalculia |
|
|
|
|
5 / 7739
|
|
29
|
(HPO:0008765)
|
Auditory hallucinations |
|
|
|
|
8 / 7739
|