|
1
|
(HPO:0000083)
|
Renal insufficiency |
|
|
|
|
232 / 7739
|
|
2
|
(HPO:0000093)
|
Proteinuria |
|
|
|
|
169 / 7739
|
|
3
|
(HPO:0000097)
|
Focal segmental glomerulosclerosis |
|
|
|
|
37 / 7739
|
|
4
|
(HPO:0000100)
|
Nephrotic syndrome |
|
|
|
|
83 / 7739
|
|
5
|
(HPO:0000112)
|
Nephropathy |
|
|
|
|
92 / 7739
|
|
6
|
(HPO:0001260)
|
Dysarthria |
|
|
|
|
329 / 7739
|
|
7
|
(HPO:0001272)
|
Cerebellar atrophy |
|
|
|
|
197 / 7739
|
|
8
|
(HPO:0001336)
|
Myoclonus |
|
|
|
|
115 / 7739
|
|
9
|
(HPO:0001873)
|
Thrombocytopenia |
|
|
|
|
224 / 7739
|
|
10
|
(HPO:0002015)
|
Dysphagia |
|
|
|
|
301 / 7739
|
|
11
|
(HPO:0002066)
|
Gait ataxia |
|
|
|
|
327 / 7739
|
|
12
|
(HPO:0002080)
|
Intention tremor |
|
|
|
|
44 / 7739
|
|
13
|
(HPO:0002174)
|
Postural tremor |
|
|
|
|
22 / 7739
|
|
14
|
(HPO:0002197)
|
Generalized seizures |
|
|
|
|
30 / 7739
|
|
15
|
(HPO:0002345)
|
Action tremor |
|
|
|
|
11 / 7739
|
|
16
|
(OMIM)
|
Horizontal saccades |
|
|
|
|
1 / 7739
|
|
17
|
(OMIM)
|
Collapsing glomerulopathy |
|
|
|
|
1 / 7739
|
|
18
|
(OMIM)
|
Vacuolization in distal and collecting tubules |
|
|
|
|
1 / 7739
|
|
19
|
(OMIM)
|
Granular material in cortical tubules |
|
|
|
|
1 / 7739
|
|
20
|
(OMIM)
|
Complement component deposition |
|
|
|
|
1 / 7739
|
|
21
|
(OMIM)
|
Action myoclonus |
|
|
|
|
3 / 7739
|
|
22
|
(OMIM)
|
Resting myoclonus |
|
|
|
|
1 / 7739
|
|
23
|
(OMIM)
|
No cognitive decline |
|
|
|
|
1 / 7739
|
|
24
|
(OMIM)
|
Extraneuronal accumulation of autofluorescent pigmented material in various brain regions |
|
|
|
|
1 / 7739
|
|
25
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
26
|
(HPO:0003678)
|
Rapidly progressive |
|
|
|
|
33 / 7739
|