|
1
|
(HPO:0000020)
|
Urinary incontinence |
|
|
|
|
75 / 7739
|
|
2
|
(HPO:0000365)
|
Hearing impairment |
|
|
|
|
539 / 7739
|
|
3
|
(HPO:0000505)
|
Visual impairment |
|
|
|
|
297 / 7739
|
|
4
|
(HPO:0000639)
|
Nystagmus |
|
|
|
|
555 / 7739
|
|
5
|
(HPO:0000726)
|
Dementia |
|
|
|
|
131 / 7739
|
|
6
|
(HPO:0000802)
|
Impotence |
|
|
|
|
20 / 7739
|
|
7
|
(HPO:0001250)
|
Seizures |
|
|
|
|
1245 / 7739
|
|
8
|
(HPO:0001251)
|
Ataxia |
|
|
|
|
413 / 7739
|
|
9
|
(HPO:0001257)
|
Spasticity |
|
|
|
|
251 / 7739
|
|
10
|
(HPO:0001260)
|
Dysarthria |
|
|
|
|
329 / 7739
|
|
11
|
(HPO:0001265)
|
Hyporeflexia |
|
|
|
|
208 / 7739
|
|
12
|
(HPO:0001269)
|
Hemiparesis |
|
|
|
|
51 / 7739
|
|
13
|
(HPO:0001271)
|
Polyneuropathy |
|
|
|
|
56 / 7739
|
|
14
|
(HPO:0001324)
|
Muscle weakness |
|
|
|
|
859 / 7739
|
|
15
|
(HPO:0001337)
|
Tremor |
|
|
|
|
200 / 7739
|
|
16
|
(HPO:0001638)
|
Cardiomyopathy |
|
|
|
|
192 / 7739
|
|
17
|
(HPO:0001640)
|
Cardiomegaly |
|
|
|
|
81 / 7739
|
|
18
|
(HPO:0002014)
|
Diarrhea |
|
|
|
|
225 / 7739
|
|
19
|
(HPO:0002019)
|
Constipation |
|
|
|
|
194 / 7739
|
|
20
|
(HPO:0002315)
|
Headache |
|
|
|
|
175 / 7739
|
|
21
|
(HPO:0002401)
|
Stroke-like episodes |
|
|
|
|
10 / 7739
|
|
22
|
(HPO:0002459)
|
Dysautonomia |
|
|
|
|
34 / 7739
|
|
23
|
(HPO:0002922)
|
Increased CSF protein |
|
|
|
|
27 / 7739
|
|
24
|
(HPO:0003477)
|
Peripheral axonal neuropathy |
|
|
|
|
62 / 7739
|
|
25
|
(HPO:0004926)
|
Orthostatic hypotension due to autonomic dysfunction |
|
|
|
|
2 / 7739
|
|
26
|
(HPO:0007841)
|
Amyloid deposition in the vitreous humor |
|
|
|
|
2 / 7739
|
|
27
|
(HPO:0010550)
|
Paraplegia |
|
|
|
|
10 / 7739
|
|
28
|
(OMIM)
|
Conduction block |
|
|
|
|
2 / 7739
|
|
29
|
(OMIM)
|
Gastrointestinal dysautonomia |
|
|
|
|
2 / 7739
|
|
30
|
(OMIM)
|
Muscle weakness due to peripheral neuropathy |
|
|
|
|
2 / 7739
|
|
31
|
(OMIM)
|
Amyloid deposition in the leptomeningeal vessels, brainstem, spinal cord |
|
|
|
|
2 / 7739
|
|
32
|
(OMIM)
|
Diffuse leptomeningeal enhancement seen on MRI |
|
|
|
|
2 / 7739
|
|
33
|
(OMIM)
|
Axonal sensory polyneuropathy |
|
|
|
|
4 / 7739
|
|
34
|
(OMIM)
|
Ascending numbness and weakness |
|
|
|
|
2 / 7739
|
|
35
|
(MedDRA:10007697)
|
Carpal tunnel syndrome |
|
|
|
|
16 / 7739
|
|
36
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
37
|
(HPO:0003581)
|
Adult onset |
|
|
|
|
117 / 7739
|
|
38
|
(HPO:0003676)
|
Progressive disorder |
|
|
|
|
148 / 7739
|
|
39
|
(HPO:0003812)
|
Phenotypic variability |
|
|
|
|
129 / 7739
|
|
40
|
(HPO:0011034)
|
Amyloidosis |
|
|
|
|
12 / 7739
|