|
1
|
(HPO:0000639)
|
Nystagmus |
|
|
|
|
555 / 7739
|
|
2
|
(HPO:0000651)
|
Diplopia |
|
|
|
|
37 / 7739
|
|
3
|
(HPO:0000726)
|
Dementia |
|
|
|
|
131 / 7739
|
|
4
|
(HPO:0001250)
|
Seizures |
|
|
|
|
1245 / 7739
|
|
5
|
(HPO:0001260)
|
Dysarthria |
|
|
|
|
329 / 7739
|
|
6
|
(HPO:0001336)
|
Myoclonus |
|
|
|
|
115 / 7739
|
|
7
|
(HPO:0002059)
|
Cerebral atrophy |
|
|
|
|
171 / 7739
|
|
8
|
(HPO:0002071)
|
Abnormality of extrapyramidal motor function |
|
|
|
|
76 / 7739
|
|
9
|
(HPO:0002171)
|
Gliosis |
|
|
|
|
48 / 7739
|
|
10
|
(HPO:0002529)
|
Neuronal loss in central nervous system |
|
|
|
|
37 / 7739
|
|
11
|
(HPO:0002936)
|
Distal sensory impairment |
|
|
|
|
96 / 7739
|
|
12
|
(HPO:0002123)
|
Generalized myoclonic seizures |
|
|
|
|
62 / 7739
|
|
13
|
(HPO:0001268)
|
Mental deterioration |
|
|
|
|
88 / 7739
|
|
14
|
(OMIM)
|
Impaired visuospatial skills |
|
|
|
|
1 / 7739
|
|
15
|
(OMIM)
|
Impaired concentration |
|
|
|
|
1 / 7739
|
|
16
|
(OMIM)
|
Impaired memory |
|
|
|
|
2 / 7739
|
|
17
|
(MedDRA:10071299)
|
Slow speech |
|
|
|
|
2 / 7739
|
|
18
|
(OMIM)
|
Accumulation of PAS-positive diastase-resistant neuronal inclusion bodies in the cerebral cortex (Collins bodies) |
|
|
|
|
1 / 7739
|
|
19
|
(OMIM)
|
Neuronal inclusion bodies stain for neuroserpin |
|
|
|
|
1 / 7739
|
|
20
|
(OMIM)
|
Distal sensory impairment, mild (in some patients) |
|
|
|
|
4 / 7739
|
|
21
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
22
|
(HPO:0001298)
|
Encephalopathy |
|
|
|
|
72 / 7739
|